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Sample records for dwarfism pituitary

  1. MR imaging of pituitary dwarfism

    International Nuclear Information System (INIS)

    Kashimada, Akio; Machida, Kikuo; Honda, Norinari; Mamiya, Toshio; Takahashi, Taku; Kamano, Tsuyoshi; Muramatsu, Masayuki; Inoue, Yusuke

    1993-01-01

    Pituitary MR imaging was performed in 32 patients with clinically diagnosed pituitary dwarfism and 12 normal controls. The patients were divided into two groups according to the severity of pituitary dwarfism based on endocrinological data. The two patients with severe dwarfism showed transection of the pituitary stalk, ectopic posterior lobe and atrophy of the anterior lobe on MR imaging, while the 27 patients with mild dwarfism showed no abnormal MR findings of the pituitary gland. The former group corresponds to typical pituitary dwarfism and the latter to partial GH deficiency, which was recently proposed as another type of pituitary dwarfism. In conclusion, pituitary MR imaging may differentiate partial GH deficiency from typical (stalk-transected) pituitary dwarfism. (author)

  2. MR imaging of pituitary dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Kashimada, Akio; Machida, Kikuo; Honda, Norinari; Mamiya, Toshio; Takahashi, Taku; Kamano, Tsuyoshi; Muramatsu, Masayuki; Inoue, Yusuke (Saitama Medical School, Kawagoe (Japan). Medical Center)

    1993-02-01

    Pituitary MR imaging was performed in 32 patients with clinically diagnosed pituitary dwarfism and 12 normal controls. The patients were divided into two groups according to the severity of pituitary dwarfism based on endocrinological data. The two patients with severe dwarfism showed transection of the pituitary stalk, ectopic posterior lobe and atrophy of the anterior lobe on MR imaging, while the 27 patients with mild dwarfism showed no abnormal MR findings of the pituitary gland. The former group corresponds to typical pituitary dwarfism and the latter to partial GH deficiency, which was recently proposed as another type of pituitary dwarfism. In conclusion, pituitary MR imaging may differentiate partial GH deficiency from typical (stalk-transected) pituitary dwarfism. (author).

  3. Shedding light on canine pituitary dwarfism

    OpenAIRE

    Voorbij, A.M.W.Y.

    2015-01-01

    Pituitary dwarfism, associated with growth hormone deficiency, is an autosomal, recessively inherited disorder in shepherd dogs. Due to the serious nature of pituitary dwarfism and lack of efficient treatment, it is preferable to prevent dwarfs from being born by applying a correct breeding policy. However, because pituitary dwarfism is a recessively inherited disorder and carriers do not differ phenotypically from non-carriers, genetic testing is required to prevent mating of 2 carriers. But...

  4. Shedding light on canine pituitary dwarfism

    NARCIS (Netherlands)

    Voorbij, A.M.W.Y.

    2015-01-01

    Pituitary dwarfism, associated with growth hormone deficiency, is an autosomal, recessively inherited disorder in shepherd dogs. Due to the serious nature of pituitary dwarfism and lack of efficient treatment, it is preferable to prevent dwarfs from being born by applying a correct breeding policy.

  5. Ectopic Neurohypophysis in Patient with Pituitary Dwarfism: A Case Report

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    İlhan Kılınç

    2008-09-01

    Full Text Available Ectopic neurohypophysis is an anomaly of the Pituitary gland whichmay be associated with short stature due to Growth hormone deficiency.MRI is the modality of choice in diagnosing this condition. We present acase of pituitary dwarfism and ectopic neurohypophysis with clinical andradiological findings. 21 year-old male admitted with short stature. Allhormones, except prolactin, of anterior hypophysis were low. Bright spotwas ectopically located at level of median eminence on enhanced MRI ofhypophysis and stalk of hypophysis was not observed. Ectopicneurohypophysis may be present with pituitary dwarfism. Cranial MRI maybe useful to investigate related pathologies in such cases.

  6. Ectopic Neurohypophysis in Patient with Pituitary Dwarfism: A Case Report

    OpenAIRE

    İlhan Kılınç; Deniz Gökalp; Cihan Akgül Özmen

    2008-01-01

    Ectopic neurohypophysis is an anomaly of the Pituitary gland whichmay be associated with short stature due to Growth hormone deficiency.MRI is the modality of choice in diagnosing this condition. We present acase of pituitary dwarfism and ectopic neurohypophysis with clinical andradiological findings. 21 year-old male admitted with short stature. Allhormones, except prolactin, of anterior hypophysis were low. Bright spotwas ectopically located at level of median eminence on enhanced MRI ofhyp...

  7. Epidural anaesthesia for caesarean section in pituitary dwarfism.

    Science.gov (United States)

    Li, Hongbo; Li, Ruihua; Lang, Bao

    2017-04-01

    We describe the anaesthetic management for caesarean section in a 32-year-old patient with pituitary dwarfism. In addition to supportive treatment, we offered a postoperative epidural analgesia pump. The patient recovered well without any complications. Copyright © 2016 Société française d'anesthésie et de réanimation (Sfar). Published by Elsevier Masson SAS. All rights reserved.

  8. Pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs is associated with a mutation in LHX3

    NARCIS (Netherlands)

    Voorbij, AMWY; Leegwater, Peter; Kooistra, Hans

    2014-01-01

    Background Pituitary dwarfism in German Shepherd Dogs is associated with autosomal recessive inheritance and a mutation in LHX3, resulting in combined pituitary hormone deficiency. Congenital dwarfism also is encountered in breeds related to German Shepherd Dogs, such as Saarloos and Czechoslovakian

  9. Dental Abnormalities in Pituitary Dwarfism: A Case Report and Review of the Literature

    OpenAIRE

    Ferrante, Franco; Blasi, Sergio; Crippa, Rolando; Angiero, Francesca

    2017-01-01

    Hypopituitarism is a disorder caused by a reduced level of trophic hormones that may be consequent on different destructive processes. The clinical manifestations depend on the type of hormone involved. A deficiency of growth hormone (GH) in children causes the lack of growth known as pituitary dwarfism. The case is reported of a patient with pituitary dwarfism, multiple dental anomalies, functional prosthetic problems, and a revision of the literature. She was subjected to prosthetic rehabil...

  10. Dental Abnormalities in Pituitary Dwarfism: A Case Report and Review of the Literature

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    Franco Ferrante

    2017-01-01

    Full Text Available Hypopituitarism is a disorder caused by a reduced level of trophic hormones that may be consequent on different destructive processes. The clinical manifestations depend on the type of hormone involved. A deficiency of growth hormone (GH in children causes the lack of growth known as pituitary dwarfism. The case is reported of a patient with pituitary dwarfism, multiple dental anomalies, functional prosthetic problems, and a revision of the literature. She was subjected to prosthetic rehabilitation without surgical intervention, using zirconium substructures, thus eliminating the potential complications that may require trauma surgery. The therapeutic approach adopted led to excellent results and restored an aesthetic smile.

  11. Radioimmunoassay of thyroid related hormones in evaluation of secondary hypothyroidism in pituitary dwarfism

    International Nuclear Information System (INIS)

    Gembicki, M.; Kosowicz, J.; Sobieszczyk, S.

    1982-01-01

    The aim of our studies was the evaluation of thyroid function in 32 patients with idiopathic pituitary dwarfism. Serum T 4 , T 3 , reverse T 3 /rT 3 / and TSH were determined by radioimmunoassay. T 4 in pituitary dwarfs ranged from 0.6 to 7.6 ug/dl, T 3 was between 41 and 124 ng/dl and rT 3 ranged from 5 to 24 ng/dl. The ranges of T 4 , T 3 and rT 3 concentration were lower comparing with controls. In 18 patients a normal rise of TSH after TRH stimulation was observed, in 14 patients the response to TRH was absent or markedly decreased. Seven days administration of TRH, 200 mcg daily i.v. did not enhance pituitary response to TRH stimulation. These results indicate that in a nearly half of patients with idiopathic dwarfism secondary hypthyroidism develops as a results of insufficient TSH secretion. (Author)

  12. Dwarfism

    Science.gov (United States)

    ... and Treatments? There is no cure or specific treatment for dwarfism that's been caused by a genetic disorder. Little ... of doing things in the average-size world. Treatment often includes providing emotional support for people and families living with dwarfism. It's not just that little people have to ...

  13. Dwarfism

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    ... people with dwarfism in modern movies often includes stereotypes. Misconceptions can impact a person's self-esteem and ... logo are trademarks of Mayo Foundation for Medical Education and Research. © 1998-2018 Mayo Foundation for Medical ...

  14. Pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs is associated with a mutation in LHX3.

    Science.gov (United States)

    Voorbij, A M W Y; Leegwater, P A; Kooistra, H S

    2014-01-01

    Pituitary dwarfism in German Shepherd Dogs is associated with autosomal recessive inheritance and a mutation in LHX3, resulting in combined pituitary hormone deficiency. Congenital dwarfism also is encountered in breeds related to German Shepherd Dogs, such as Saarloos and Czechoslovakian wolfdogs. To investigate whether Saarloos and Czechoslovakian wolfdog dwarfs have the same LHX3 mutation as do Germans Shepherd Dog dwarfs. A specific aim was to determine the carrier frequency among Saarloos and Czechoslovakian wolfdogs used for breeding. Two client-owned Saarloos wolfdogs and 4 client-owned Czechoslovakian wolfdogs with pituitary dwarfism, 239 clinically healthy client-owned Saarloos wolfdogs, and 200 client-owned clinically healthy Czechoslovakian wolfdogs. Genomic DNA was amplified using polymerase chain reaction (PCR). In the Saarloos and Czechoslovakian wolfdog dwarfs, PCR products were analyzed by sequencing. DNA fragment length analysis was performed on the samples from the clinically healthy dogs. Saarloos and Czechoslovakian wolfdog dwarfs have the same 7 bp deletion in intron 5 of LHX3 as do German Shepherd Dog dwarfs. The frequency of carriers of this mutation among clinically healthy Saarloos and Czechoslovakian wolfdogs used for breeding was 31% and 21%, respectively. An LHX3 mutation is associated with pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs. The rather high frequency of carriers of the mutated gene in the 2 breeds emphasizes the need for screening before breeding. If all breeding animals were genetically tested for the presence of the LHX3 mutation and a correct breeding policy would be implemented, this disease could be eradicated completely. Copyright © 2014 by the American College of Veterinary Internal Medicine.

  15. Ghrelin-stimulation test in the diagnosis of canine pituitary dwarfism.

    Science.gov (United States)

    Bhatti, S F M; De Vliegher, S P; Mol, J A; Van Ham, L M L; Kooistra, H S

    2006-08-01

    This study investigated whether ghrelin, a potent releaser of growth hormone (GH) secretion, is a valuable tool in the diagnosis of canine pituitary dwarfism. The effect of intravenous administration of ghrelin on the release of GH and other adenohypophyseal hormones was investigated in German shepherd dogs with congenital combined pituitary hormone deficiency and in healthy Beagles. Analysis of the maximal increment (i.e. difference between pre- and maximal post-ghrelin plasma hormone concentration) indicated that the GH response was significantly lower in the dwarf dogs compared with the healthy dogs. In none of the pituitary dwarfs, the ghrelin-induced plasma GH concentration exceeded 5 microg/l at any time. However, this was also true for 3 healthy dogs. In all dogs, ghrelin administration did not affect the plasma concentrations of ACTH, cortisol, TSH, LH and PRL . Thus, while a ghrelin-induced plasma GH concentration above 5 microg/l excludes GH deficiency, false-negative results may occur.

  16. MORPHO‐FUNCTIONAL RE‐ESTABLISHMENT OF CRANIO‐FACIAL GROWTH DISORDERS IN PITUITARY DWARFISM BY RHGH THERAPY

    OpenAIRE

    Adriana BĂLAN; Marinela PĂSĂREANU; Vasilica TOMA; Irina Nicoleta ZETU

    2013-01-01

    The present study evaluates the cranio‐facial growth disorders in a series of patients suffering from pituitary dwarfism, as a result of the therapy with recombinant human growth hormone (rhGH). Included in the study were 15 children diagnosed with pituitary dwarfism in the Endocrinology Clinics of the ”Sf. Spiridon” Hospital of Iasi, subjected to a treatment with rhGH for 2 years. After the application of the therapy, the parameters of general physical development were followed and the denta...

  17. Atlanto-axial malformation and instability in dogs with pituitary dwarfism due to an LHX3 mutation.

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    Voorbij, A M W Y; Meij, B P; van Bruggen, L W L; Grinwis, G C M; Stassen, Q E M; Kooistra, H S

    2015-01-01

    Canine pituitary dwarfism or combined pituitary hormone deficiency (CPHD) in shepherd dogs is associated with an LHX3 mutation and can lead to a wide range of clinical manifestations. Some dogs with CPHD have neurological signs that are localized to the cervical spine. In human CPHD, caused by an LHX3 mutation, anatomical abnormalities in the atlanto-axial (C1-C2) joint have been described. To evaluate the presence of atlanto-axial malformations in dogs with pituitary dwarfism associated with an LHX3 mutation and to investigate the degree of similarity between the atlanto-axial anomalies found in canine and human CPHD patients with an LHX3 mutation. Three client-owned Czechoslovakian wolfdogs and 1 client-owned German shepherd dog, previously diagnosed with pituitary dwarfism caused by an LHX3 mutation, with neurological signs indicating a cervical spinal disorder. Radiography, computed tomography, and magnetic resonance imaging of the cranial neck and skull, necropsy, and histology. Diagnostic imaging identified abnormal positioning of the dens axis and incomplete ossification of the suture lines between the ossification centers of the atlas with concurrent atlanto-axial instability and dynamic compression of the spinal cord by the dens axis. The malformations and aberrant motion at C1-C2 were confirmed at necropsy and histology. The atlanto-axial abnormalities of the dwarf dogs resemble those encountered in human CPHD patients with an LHX3 mutation. These findings suggest an association between the LHX3 mutation in dogs with CPHD and atlanto-axial malformations. Consequently, pituitary dwarfs should be monitored closely for neurological signs. Copyright © 2015 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of American College of Veterinary Internal Medicine.

  18. MORPHO‐FUNCTIONAL RE‐ESTABLISHMENT OF CRANIO‐FACIAL GROWTH DISORDERS IN PITUITARY DWARFISM BY RHGH THERAPY

    Directory of Open Access Journals (Sweden)

    Adriana BĂLAN

    2013-06-01

    Full Text Available The present study evaluates the cranio‐facial growth disorders in a series of patients suffering from pituitary dwarfism, as a result of the therapy with recombinant human growth hormone (rhGH. Included in the study were 15 children diagnosed with pituitary dwarfism in the Endocrinology Clinics of the ”Sf. Spiridon” Hospital of Iasi, subjected to a treatment with rhGH for 2 years. After the application of the therapy, the parameters of general physical development were followed and the dental ortho‐ pantomography and profile cephalometry were analyzed. The results obtained confirm a general physical growth of about 1.3 cm/month in the first year of treatment, followed by values around 1.1 cm/month in the second year. Cranio‐facial development was improved by the increase of both mandibular vertical branch and facial height. At the level of the dental arches, one could observe improved sagital and transversal relations at molar level, as well as a regulating tendency of dental eruption. The therapy with rhGH is thus influent at cranio‐facial level, favourizing the development of maxillaries, regulation of dental eruption and the aesthetic aspects.

  19. Hypothalamic-pituitary dwarfism: Comparison between MR imaging and CT findings

    International Nuclear Information System (INIS)

    Maghnie, M.; Larizza, D.; Severi, F.; Triulzi, F.; Scotti, G.; Beluffi, G.; Cecchini, A.

    1990-01-01

    Magnetic Resonance (MR) imaging was carried out on 33 patients with idiopathic growth hormone deficiency, in 22 of whom CT scan had been carried out previously. Twenty-one patients presented some complications at birth. Both MR and CT were positive in the evaluation of the sella. MR imaging exhibited a higher degree of accuracy than CT in the evaluation of pituitary gland, pituitary stalk and brain anomalies. (orig.)

  20. A Contracted DNA Repeat in LHX3 Intron 5 Is Associated with Aberrant Splicing and Pituitary Dwarfism in German Shepherd Dogs

    Science.gov (United States)

    Voorbij, Annemarie M. W. Y.; van Steenbeek, Frank G.; Vos-Loohuis, Manon; Martens, Ellen E. C. P.; Hanson-Nilsson, Jeanette M.; van Oost, Bernard A.; Kooistra, Hans S.; Leegwater, Peter A.

    2011-01-01

    Dwarfism in German shepherd dogs is due to combined pituitary hormone deficiency of unknown genetic cause. We localized the recessively inherited defect by a genome wide approach to a region on chromosome 9 with a lod score of 9.8. The region contains LHX3, which codes for a transcription factor essential for pituitary development. Dwarfs have a deletion of one of six 7 bp repeats in intron 5 of LHX3, reducing the intron size to 68 bp. One dwarf was compound heterozygous for the deletion and an insertion of an asparagine residue in the DNA-binding homeodomain of LHX3, suggesting involvement of the gene in the disorder. An exon trapping assay indicated that the shortened intron is not spliced efficiently, probably because it is too small. We applied bisulfite conversion of cytosine to uracil in RNA followed by RT-PCR to analyze the splicing products. The aberrantly spliced RNA molecules resulted from either skipping of exon 5 or retention of intron 5. The same splicing defects were observed in cDNA derived from the pituitary of dwarfs. A survey of similarly mutated introns suggests that there is a minimal distance requirement between the splice donor and branch site of 50 nucleotides. In conclusion, a contraction of a DNA repeat in intron 5 of canine LHX3 leads to deficient splicing and is associated with pituitary dwarfism. PMID:22132174

  1. A contracted DNA repeat in LHX3 intron 5 is associated with aberrant splicing and pituitary dwarfism in German shepherd dogs.

    Directory of Open Access Journals (Sweden)

    Annemarie M W Y Voorbij

    Full Text Available Dwarfism in German shepherd dogs is due to combined pituitary hormone deficiency of unknown genetic cause. We localized the recessively inherited defect by a genome wide approach to a region on chromosome 9 with a lod score of 9.8. The region contains LHX3, which codes for a transcription factor essential for pituitary development. Dwarfs have a deletion of one of six 7 bp repeats in intron 5 of LHX3, reducing the intron size to 68 bp. One dwarf was compound heterozygous for the deletion and an insertion of an asparagine residue in the DNA-binding homeodomain of LHX3, suggesting involvement of the gene in the disorder. An exon trapping assay indicated that the shortened intron is not spliced efficiently, probably because it is too small. We applied bisulfite conversion of cytosine to uracil in RNA followed by RT-PCR to analyze the splicing products. The aberrantly spliced RNA molecules resulted from either skipping of exon 5 or retention of intron 5. The same splicing defects were observed in cDNA derived from the pituitary of dwarfs. A survey of similarly mutated introns suggests that there is a minimal distance requirement between the splice donor and branch site of 50 nucleotides. In conclusion, a contraction of a DNA repeat in intron 5 of canine LHX3 leads to deficient splicing and is associated with pituitary dwarfism.

  2. Diagnostic Usefulness of Insulin-Like Growth Factor 1 and Insulin-Like Growth Factor Binding Protein 3 in Children with Suspected Pituitary Dwarfism.

    Science.gov (United States)

    Zelazowska-Rutkowska, Beata; Trusiak, Marta; Bossowski, Artur; Cylwik, Bogdan

    2018-05-01

    Pituitary dwarfism (also known as short stature) is a medical condition in which the pituitary gland does not produce enough growth hormone (GH). To confirm the diagnosis of growth hormone deficiency the overnight profile of GH secretion and GH provocative tests are usually performed; however, due to wide GH fluctuations throughout the day and night and the invasiveness of stimulation tests, their clinical utility is limited. Therefore, screening for IGF-1 (insulin-like growth factor 1) and IGFBP-3 (insulin-like growth factor binding protein type 3) is proposed, suggesting that these tests provide a more accurate reflection of the mean plasma GH level, although the results of these tests are still problematic. In this context, the aim of this study was to assess the diagnostic usefulness of IGF-1 and IGFBP-3 in children with suspected pituitary dwarfism. Studies were carried out in 127 children with abnormal growth and low spontaneous 24-hour plasma GH profiles and abnormal results of GH stimulation tests. Fasting serum IGF-1 and IGFBP-3 were determined by chemiluminescent quantitative measurement using the IMMULITE 1000 IGF-1 and IGFBP-3 kits (Siemens Healthcare Diagnostics, United Kingdom) on the IMMULITE 1000 analyzer (Siemens Healthcare Diagnostics, USA). Results were compared to the normal range by children's age. Mean serum IGF-1 concentrations were within the lower normal range (41.7% cases), and 58.3% results were below the normal reference range in the study group. The average serum IGFBP-3 levels were within the lower normal range. We conclude that IGF-1 test can be a useful tool in the diagnosis of pituitary dwarfism in children suspected of this condition, but due to relatively poor sensitivity the testing cannot be performed alone, but in combination with other tests. The IGFBP-3 test is not useful for the diagnosis of this disease.

  3. Dwarfism and gigantism in historical picture postcards.

    OpenAIRE

    Enderle, A

    1998-01-01

    A collection of 893 historical picture postcards from 1900 to 1935, depicting dwarfs and giants, was analysed from medical and psychosocial viewpoints. In conditions such as 'bird headed dwarfism', achondroplasia, cretinism, so-called Aztecs or pinheads, Grebe chondrodysplasia, and acromegalic gigantism, the disorder could be diagnosed easily. In hypopituitary dwarfism, exact diagnosis was more difficult because of heterogeneity. The most common conditions depicted were pituitary dwarfism and...

  4. Primordial Dwarfism

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    ... Topics Gait & Motion Analysis Genetic Disorders Limb Length Discrepancy Orthopedics Orthotics Primordial Dwarfism Locations & Doctors About Primordial ... Sign-In » Patient-Family Resources Insurance We Accept Pay My Bill Financial Assistance Medical Records Support Services ...

  5. Dyssegmental dwarfism

    International Nuclear Information System (INIS)

    Miething, R.; Stoever, B.; Tuengerthal, S.; Winterling, D.; Svejcar, J.

    1981-01-01

    Report on 2 cases of dyssegmental dwarfism, a rare lethal form of dwarfism. Both male newborns died from asphyxia immediately after delivery. Its features are malformations of the first visceral arch (Pierre-Robin-Syndrome) malformations of all extremities (Camptomicromelia) and severe malformations of the spine (Anisospondyly), with the vertebral changes serving as the main differential diagnostic feature. Among other things, these malformations are due to defective enchondral ossification; and the disease is presumably autosomal recessive. (orig.) [de

  6. Thanatophoric dwarfism

    International Nuclear Information System (INIS)

    Frahm, R.

    1986-01-01

    The brothers and sisters described above show all the important exterior and radiological signs of thanatophoric dwarfism type I. The other described complications of pregnancy such as hydramnios, premature birth or abortion did not occur. According to present day publications a homogeneous heredity have not been noticed, so the risk of a repetition after having a child with thanatophoric dwarfism is given as 1:50 to 1:4 for healthy parents. Ultrasonic controls frequently repeated at short intervals, especially with hydramnios or an atypical development of the skeleton combined with a radiograph and - in case of doubt-fetography enables a diagnosis of thanatophoric dwarfism to be made from about the 18th week of gestation. With a positive diagnosis an interruption of pregnancy is indicated because of the absolutely lethal prognosis. (orig.) [de

  7. Thanatophoric dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Frahm, R.

    1986-12-01

    The brothers and sisters described above show all the important exterior and radiological signs of thanatophoric dwarfism type I. The other described complications of pregnancy such as hydramnios, premature birth or abortion did not occur. According to present day publications a homogeneous heredity have not been noticed, so the risk of a repetition after having a child with thanatophoric dwarfism is given as 1:50 to 1:4 for healthy parents. Ultrasonic controls frequently repeated at short intervals, especially with hydramnios or an atypical development of the skeleton combined with a radiograph and - in case of doubt-fetography enables a diagnosis of thanatophoric dwarfism to be made from about the 18th week of gestation. With a positive diagnosis an interruption of pregnancy is indicated because of the absolutely lethal prognosis.

  8. Dwarfism and gigantism in historical picture postcards.

    Science.gov (United States)

    Enderle, A

    1998-01-01

    A collection of 893 historical picture postcards from 1900 to 1935, depicting dwarfs and giants, was analysed from medical and psychosocial viewpoints. In conditions such as 'bird headed dwarfism', achondroplasia, cretinism, so-called Aztecs or pinheads, Grebe chondrodysplasia, and acromegalic gigantism, the disorder could be diagnosed easily. In hypopituitary dwarfism, exact diagnosis was more difficult because of heterogeneity. The most common conditions depicted were pituitary dwarfism and achondroplasia. Most of those with gigantism had pituitary gigantism and acromegaly. Brothers and sisters or parents and their children provided evidence of mendelian inheritance of some of these disorders. The cards suggest that being put on show provided, at least in some cases, social benefits. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 PMID:9764085

  9. Nanismo hipofisário em um canino: achados clínicos e laboratoriais Pituitary dwarfism in a canine: clinical and laboratorial findings

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    Luiz Fernando Jantzen Gaspar

    1995-01-01

    Full Text Available Relata-se um caso de nanismo hipofisário em um canino da raça Pastor Alemão, fêmea, com 14 meses de idade. Descreve-se sinais clínicos e dosagem das concentrações plasmáticas de hormônio do crescimento (GH antes e após a estimulação α-adrenιrgica com cloridrato de xilazina. O nível máximo de GH plasmático pós-estímulo foi 1ng/dl.This case report is about dwarfism in a German Shepherd dog, female, 14 months old. Clinical signals are described. The endocrinologic investigation was realized by dosages of plasma levels of growth hormone, pré and post xilazine estimulation. The maximal level of GH post-estimulation was 1ng/dl.

  10. [Dwarfism due to familial panhypopituitarism].

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    Cos Welsh, J; Espinosa de los Monteros, A; de la Luz Ajuria, M; Morillo Almao, E

    1977-01-01

    Three sisters of 27 7/12, 13 8/12 and 9 1/12 years of age, respectively, with proportionate dwarfism, high pitched voice and lack of sexual development are described. All the patients had very low serum levels of immunoreactive growth hormone (GH), as well as of LH and FSH. Hypoglycemia induced by insulin and arginine infusion failed to increase GH levels, and the administration of the hypothalamic LH-FSH releasing hormone (LH-RH) did not elicit any response in the secretion of gonadotropins. The oldest sister developed hypothyroidism in recent years, since the I131 thyroid uptake was normal ten years before; her serum TSH was low and did not change with TRH stimulation. In addition, a low pituitary ACTH reserve was demonstrated by the hypoglycemia and metirapone tests. Case 2 showed partial pituitary TSH and ACTH reserve, whereas the youngest child only had low TSH pituitary reserve. These patients had all the clinical and laboratory characteristics of familial panhypopituitarism, with normal sella turcica. Genetic transmission in this cases is consistent with the autosomal recessive form, which is the most frequent type of inheritance of this entity. Consanguinity can not be ruled out. The results of the hypothalamic-pituitary functional tests apparently suggest that the primary defect could be located at the pituitary level. It is also possible that the pathological process may have a progressive evolution.

  11. [Panhypopituitarism and dwarfism in a man with a primary empty sella turcica (author's transl)].

    Science.gov (United States)

    Turpin, G; Jambart, S; de Gennes, J L

    1979-03-10

    Endocrine features associated with the primary empty sella turcica syndrom are rare; they are usually related to a pituitary microadenoma and more rarely to an idiopathic panhypop ituitarism. A pituitary dwarfism with an idiopathic panhypopituitarism of hypothalamic origin, associated with an "empty" sella turcica containing functional and stimulable pituitary tissue, is reported in a 27 year old male Moraccan.

  12. Genetic disorders of the anterior pituitary gland.

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    Teller, W M

    1985-01-01

    This survey deals with disorders caused by genetically disturbed function of the anterior pituitary gland. Genetic Dwarfism may be caused by isolated growth hormone deficiency (IGHD) or panpituitary diseases, such as congenital absence of the pituitary or familial panhypopituitarism. Genetic disturbances of isolated pituitary hormone secretion without dwarfism may occur as isolated gonadotropin deficiency (IGD), isolated luteinizing hormone deficiency ("fertile eunuch"), Kallmann syndrome (olfactogenital dysplasia), isolated thyrotropin deficiency (ITD) and isolated corticotropin deficiency (ICD). Pituitary dysfunction may also be associated with other genetic disease entities.

  13. [Limb lengthening in dwarfism].

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    Correll, J; Held, P

    2000-09-01

    Limb lengthening in dwarfism has become a standardised procedure with a good prognosis. In most cases external fixation is used. Gain of leg length up to 15 cm and more is possible in the lower leg and the femur and 8.5 cm in the humerus. Limb lengthening is useful in many cases of dwarfism due to skeletal dysplasia. There are a number of risks and possible complications involved and the procedure also requires considerable time. We report the results of 48 patients with dwarfism operated on in the Orthopädische Kinderklinik Aschau (Orthopaedic Hospital for Children). It must not be recommended as a normal tool in handling the problems of dwarfism, but it makes sense in some cases of dwarfism. We describe and discuss the prerequisites for the operative treatment.

  14. The Enigma behind Pituitary and Sella Turcica

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    Umarevathi Gopalakrishnan

    2015-01-01

    Full Text Available The pituitary gland’s role as a functional matrix for sella turcica has not been suggested in orthodontic literature. This paper is an attempt to correlate the role of pituitary gland in the development of sella turcica. A case report of dwarfism associated with hypopituitarism is presented to highlight the above hypothesis.

  15. Primordial dwarfism: an update.

    Science.gov (United States)

    Alkuraya, Fowzan S

    2015-02-01

    To review the recent advances in the clinical and molecular characterization of primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life. The last decade has witnessed an unprecedented acceleration in the discovery of genes mutated in primordial dwarfism, from one gene to more than a dozen genes. These genetic discoveries have confirmed the notion that primordial dwarfism is caused by defects in basic cellular processes, most notably centriolar biology and DNA damage response. Fortunately, the increasing number of reported clinical primordial dwarfism subtypes has been accompanied by more accurate molecular classification. Qualitative defects of centrioles with resulting abnormal mitosis dynamics, reduced proliferation, and increased apoptosis represent the predominant molecular pathogenic mechanism in primordial dwarfism. Impaired DNA damage response is another important mechanism, which we now know is not mutually exclusive to abnormal centrioles. Molecular characterization of primordial dwarfism is helping families by enabling more reproductive choices and may pave the way for the future development of therapeutics.

  16. Mesomelic dwarfism in pseudoachondroplasia.

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    Song, Hae-Ryong; Li, Qi-Wei; Oh, Chang-Wug; Lee, Kwang-Soo; Koo, Soo Kyung; Jung, Sung-Chul

    2004-09-01

    Pseudoachondroplasia (PSACH) is associated with mutations in the cartilage oligomeric matrix protein (COMP) gene and the clinical characteristics include short stature, deformities of the extremities involving the epiphyses and metaphyses, early onset arthritis, and ligament laxity. PSACH has been considered a rhizomelic form of dwarfism. So far no previous report has described mesomelic shortening of the limbs in PSACH. We reviewed nine patients with a diagnosis of PSACH based on clinical and radiographic examination and mutation analysis of the COMP gene. The mean height in the adults was 116 cm. All patients showed mesomelic dwarfism. The average ratios of radial length to humeral length and tibial length to femoral length were 0.62 and 0.63, respectively. The tibia and the radius showed more severe bony deformity than the femur and humerus. The degree of short stature was related to the site of the mutation in the COMP gene, but there was no correlation between bony deformity and height or gene mutation.

  17. Radiologic findings of dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Hwang, M. S.; Oh, K. K.; Park, C. Y.; Kim, D. H. [Yonsei University, College of Medicine, Seoul (Korea, Republic of); Kim, D. H. [Yonsei Univ., Seoul (Korea, Republic of)

    1981-06-15

    The stature of human is very important factor in human-being, especially in childhood. The stature depends on various different conditions, such as familial factor, constitutional factor, chromosomal anomalies, skeletal disorders, or endocrinopathies. The early diagnosis of dwarfism is very important problem, because if appropriate treatment is delayed, the complication or sequales are more increased. The survey of familial history or patient's past history, detail check up of physical examination, radiological evaluation, and other laboratory examinations are essentially needed for the accurate diagnosis of dwarfism. Among the patients admitted to Yonsei University college of Medicine, Severance Hospital since 1963, with chief complaint of short stature or other associated diseases, an analysis of radiological findings were made for the 72 cases of chromosomal anomalies, skeletal dysplasia, and cretinism in which radiologic evaluation was available. The conclusions are as follows; 1. The cause of short stature are chromosomal anomalies (48 cases), skeletal dysplasia (14 cases) and cretinism (10 cases). 2. in chromosomal anomalies, 43 cases of mongolism and 5 cease of Turner's syndrome are noted. In mongolism, 18 cases among the 30 cases below 1 year old are distributed below the 10 percentile of height. On radiologic findings, 11 paired ribs (22/43), congenital heart disease (14/43), decreased iliac index (8/12), and associated anomalies or diseases, such as pneumonia (14 cases), C1-C2 dislocation (1 case), imperforated anus (1 case), Morgagni's hernia (1 case) and leukemia with sepsis (1 case). In Turner's syndrome, decreased bone density (5/5), positive metacarpal sign (2/5), positive carpal sign (1/5), change of knee joint (3/5), hypoplasia of (1/3), and increased carrying angle of elbows (1/3) are noted.

  18. Radiologic findings of dwarfism

    International Nuclear Information System (INIS)

    Hwang, M. S.; Oh, K. K.; Park, C. Y.; Kim, D. H.; Kim, D. H.

    1981-01-01

    The stature of human is very important factor in human-being, especially in childhood. The stature depends on various different conditions, such as familial factor, constitutional factor, chromosomal anomalies, skeletal disorders, or endocrinopathies. The early diagnosis of dwarfism is very important problem, because if appropriate treatment is delayed, the complication or sequales are more increased. The survey of familial history or patient's past history, detail check up of physical examination, radiological evaluation, and other laboratory examinations are essentially needed for the accurate diagnosis of dwarfism. Among the patients admitted to Yonsei University college of Medicine, Severance Hospital since 1963, with chief complaint of short stature or other associated diseases, an analysis of radiological findings were made for the 72 cases of chromosomal anomalies, skeletal dysplasia, and cretinism in which radiologic evaluation was available. The conclusions are as follows; 1. The cause of short stature are chromosomal anomalies (48 cases), skeletal dysplasia (14 cases) and cretinism (10 cases). 2. in chromosomal anomalies, 43 cases of mongolism and 5 cease of Turner's syndrome are noted. In mongolism, 18 cases among the 30 cases below 1 year old are distributed below the 10 percentile of height. On radiologic findings, 11 paired ribs (22/43), congenital heart disease (14/43), decreased iliac index (8/12), and associated anomalies or diseases, such as pneumonia (14 cases), C1-C2 dislocation (1 case), imperforated anus (1 case), Morgagni's hernia (1 case) and leukemia with sepsis (1 case). In Turner's syndrome, decreased bone density (5/5), positive metacarpal sign (2/5), positive carpal sign (1/5), change of knee joint (3/5), hypoplasia of (1/3), and increased carrying angle of elbows (1/3) are noted

  19. Transection of the pituitary stalk: evaluation of two cases by computerized tomography and magnetic resonance

    International Nuclear Information System (INIS)

    Amaral, L.L.F. do; Mendonca, R.A.; Natal, M.R.C.

    1992-01-01

    The authors present two cases of pituitary dwarfism where the study by high resolution computed tomography and by magnetic resonance imaging show transection of the pituitary stalk as the cause of the endocrine disturb. The importance of these methods on the investigation of disturbs of the hypothalamus-hypophyseal axis is stressed. (author)

  20. Brain and bone abnormalities of thanatophoric dwarfism.

    Science.gov (United States)

    Miller, Elka; Blaser, Susan; Shannon, Patrick; Widjaja, Elysa

    2009-01-01

    The purpose of this article is to present the imaging findings of skeletal and brain abnormalities in thanatophoric dwarfism, a lethal form of dysplastic dwarfism. The bony abnormalities associated with thanatophoric dwarfism include marked shortening of the tubular bones and ribs. Abnormal temporal lobe development is a common associated feature and can be visualized as early as the second trimester. It is important to assess the brains of fetuses with suspected thanatophoric dwarfism because the presence of associated brain malformations can assist in the antenatal diagnosis of thanatophoric dwarfism.

  1. Bilateral double level tibial lengthening in dwarfism.

    Science.gov (United States)

    Burghardt, Rolf D; Yoshino, Koichi; Kashiwagi, Naoya; Yoshino, Shigeo; Bhave, Anil; Paley, Dror; Herzenberg, John E

    2015-12-01

    Outcome assessment after double level tibial lengthening in patients with dwarfism. Fourteen patients with dwarfism were analyzed after bilateral simultaneous double level tibial lengthening. Average age was 15.1 years. Average lengthening was 13.5 cm. The two levels were lengthened by an average of 7.5 cm proximally and 6.0 cm distally. Concomitant deformities were also addressed during lengthening. External fixation treatment time averaged 8.8 months. Healing index averaged 0.7 months/cm. Bilateral tibial lengthening for dwarfism is difficult, but the results are usually quite gratifying.

  2. Pituitary gigantism.

    Science.gov (United States)

    Lu, P W; Silink, M; Johnston, I; Cowell, C T; Jimenez, M

    1992-01-01

    A case of pituitary gigantism resulting from a pituitary adenoma which secreted growth hormone is described. The patient was successfully treated by surgery, which led to the normalisation of endogenous growth hormone secretion. An acceptable final height was achieved with high dose intramuscular testosterone treatment. Images Figure 1 PMID:1520009

  3. Pituitary gigantism.

    OpenAIRE

    Lu, P W; Silink, M; Johnston, I; Cowell, C T; Jimenez, M

    1992-01-01

    A case of pituitary gigantism resulting from a pituitary adenoma which secreted growth hormone is described. The patient was successfully treated by surgery, which led to the normalisation of endogenous growth hormone secretion. An acceptable final height was achieved with high dose intramuscular testosterone treatment.

  4. Neonatal death dwarfism - a new form

    Energy Technology Data Exchange (ETDEWEB)

    Colavita, N.; Kozlowski, K.

    1984-09-01

    A new type of neonatal death dwarfism is reported. Although it resembles superficially the metatropic dysplasia group of diseases it has some distinctive radiographic features which help to delineate it as a separate entity.

  5. Neonatal death dwarfism - a new form

    International Nuclear Information System (INIS)

    Colavita, N.; Kozlowski, K.; Universita Cattolica del Sacro Cuore di Milano, Rome

    1984-01-01

    A new type of neonatal death dwarfism is reported. Although it resembles superficially the metatropic dysplasia group of diseases it has some distinctive radiographic features which help to delineate it as a separate entity. (orig.)

  6. Prenatal sonographic diagnosis of diastrophic dwarfism.

    Science.gov (United States)

    Tongsong, Theera; Wanapirak, Chanane; Sirichotiyakul, Supatra; Chanprapaph, Pharuhas

    2002-02-01

    A healthy 27-year-old pregnant woman underwent sonographic examination because her uterine size was large for 20 weeks' menstrual age. Sonograms showed short fetal limbs with hitchhiker thumbs and toes, thoracic scoliosis, clubbed feet, and polyhydramnios. The ossification of all bony structures appeared normal, and there was no evidence of fractures. On the basis of these sonographic findings, we diagnosed skeletal dysplasia and short-limbed dwarfism, most likely diastrophic dwarfism. We counseled the parents, and the pregnancy was continued. At 37 weeks menstrual age, the patient vaginally delivered a male infant that weighed 2,560 g. The infant survived with respiratory support during his first few days of life. Postnatal physical and radiologic examinations confirmed the prenatal diagnosis of diastrophic dwarfism. Sonography is the modality of choice for prenatal detection of diastrophic dwarfism. Copyright 2002 John Wiley & Sons, Inc.

  7. Dyssegmental dwarfism. Report on two cases

    Energy Technology Data Exchange (ETDEWEB)

    Miething, R.; Stoever, B.; Tuengerthal, S.; Winterling, D.; Svejcar, J.

    1981-04-01

    Report on 2 cases of dyssegmental dwarfism, a rare lethal form of dwarfism. Both male newborns died from asphyxia immediately after delivery. Its features are malformations of the first visceral arch (Pierre-Robin-Syndrome), malformations of all extremities (Camptomicromelia) and severe malformations of the spine (Anisospondyly), with the vertebral changes serving as the main differential diagnostic feature. Among other things, these malformations are due to defective enchondral ossification; and the disease is presumably autosomal recessive.

  8. Pituitary Imaging.

    Science.gov (United States)

    Pressman, Barry D

    2017-09-01

    Modern pituitary imaging is MRI. However, computed tomography (CT) still has limited usefulness. In addition, because CT offers much better bone detail and calcium detection, there are some cases in which such additional information is necessary. Before the advent of CT, plain radiography, pneumoencephalography, and angiography were used to diagnose pituitary masses. More recently, CT, and then especially MRI, made it possible to primarily delineate lesions within and around the pituitary gland rather than depend on secondary information that could only suggest their presence. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. Purification and cultivation of human pituitary growth hormone secreting cells

    Science.gov (United States)

    Hymer, W. C.

    1979-01-01

    Efforts were directed towards maintenance of actively secreting human pituitary growth hormone cells (somatotrophs) in vitro. The production of human growth hormone (hGH) by this means would be of benefit for the treatment of certain human hypopituitary diseases such as dwarfism. One of the primary approaches was the testing of agents which may logically be expected to increase hGH release. The progress towards this goal is summarized. Results from preliminary experiments dealing with electrophoresis of pituitary cell for the purpose of somatotroph separation are described.

  10. Pituitary Tumors

    Science.gov (United States)

    ... Association (ABTA) International RadioSurgery Association National Brain Tumor Society National Institute of Child Health and Human Development ... Definition The pituitary is a small, bean-sized gland ...

  11. Pituitary tumor

    Science.gov (United States)

    ... than normal level of growth hormone in adults) Nipple discharge and irregular or absent menstrual periods in women Decreased sexual function in men Symptoms caused by pressure from a larger pituitary ...

  12. Pituitary Tumors

    Science.gov (United States)

    ... Peer Support Resources Diseases and Conditions Adrenal Disorders Osteoporosis and Bone Health Children and Teen Health Diabetes Heart Health Men's Health Rare Diseases Pituitary Disorders Thyroid Disorders Transgender Health Obesity and Weight Management Women's Health You and Your ...

  13. Mechanisms for pituitary tumorigenesis: the plastic pituitary

    OpenAIRE

    Melmed, Shlomo

    2003-01-01

    The anterior pituitary gland integrates the repertoire of hormonal signals controlling thyroid, adrenal, reproductive, and growth functions. The gland responds to complex central and peripheral signals by trophic hormone secretion and by undergoing reversible plastic changes in cell growth leading to hyperplasia, involution, or benign adenomas arising from functional pituitary cells. Discussed herein are the mechanisms underlying hereditary pituitary hypoplasia, reversible pituitary hyperplas...

  14. Prenatal diagnosis of dwarfism by ultrasound screening.

    OpenAIRE

    Weldner, B M; Persson, P H; Ivarsson, S A

    1985-01-01

    In a general, ultrasound screening programme, 12 453 women were examined at 16 and 32 weeks of pregnancy. The screening detected all limb deformities in the population during the study period. The seeming prevalence of dwarfism in the population was 750 per million.

  15. Prenatal diagnosis of dwarfism by ultrasound screening.

    Science.gov (United States)

    Weldner, B M; Persson, P H; Ivarsson, S A

    1985-01-01

    In a general, ultrasound screening programme, 12 453 women were examined at 16 and 32 weeks of pregnancy. The screening detected all limb deformities in the population during the study period. The seeming prevalence of dwarfism in the population was 750 per million. PMID:3907507

  16. Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Macpherson, R.I.; Wood, B.P.

    1980-07-01

    Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed.

  17. Lethal neonatal short-limbed dwarfism

    International Nuclear Information System (INIS)

    Kim, Ok Hwa; Yim, Chung Ik; Bahk, Yong Whee

    1986-01-01

    We have detailed our experiences on 6 cases of neonatal lethal short-limbed dwarfism and reviewed the articles. They include, achondrogenesis, thanatophoric dysplasia, asphyxiating thoracic dysplasia, osteogenesis imperfect a congenita, and hypophosphatasia lethals. Five babies were born alive but died soon after birth and one was a stillbirth. The main cause of failure to thrive was respiratory insufficiency. Each case was having quite characteristic radiologic findings, even if the general appearances were similar to the achondroplasts clinically. Precise diagnosis is very important for genetic counselling of the parents and alarm to them the possibility of bone dysplasias to the next offsprings. For this purpose, the radiologists play major role for the correct diagnosis. We stress that when the baby is born with short-limbed dwarfism, whole body radiogram should be taken including lateral view and postmortem radiogram is also very precious.

  18. Lethal neonatal short-limbed dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ok Hwa; Yim, Chung Ik; Bahk, Yong Whee [Catholic Medical College, Seoul (Korea, Republic of)

    1986-02-15

    We have detailed our experiences on 6 cases of neonatal lethal short-limbed dwarfism and reviewed the articles. They include, achondrogenesis, thanatophoric dysplasia, asphyxiating thoracic dysplasia, osteogenesis imperfect a congenita, and hypophosphatasia lethals. Five babies were born alive but died soon after birth and one was a stillbirth. The main cause of failure to thrive was respiratory insufficiency. Each case was having quite characteristic radiologic findings, even if the general appearances were similar to the achondroplasts clinically. Precise diagnosis is very important for genetic counselling of the parents and alarm to them the possibility of bone dysplasias to the next offsprings. For this purpose, the radiologists play major role for the correct diagnosis. We stress that when the baby is born with short-limbed dwarfism, whole body radiogram should be taken including lateral view and postmortem radiogram is also very precious.

  19. Case of pituitary stalk transection syndrome ascertained after breech delivery.

    Science.gov (United States)

    Fukuta, Kaori; Hidaka, Takao; Ono, Yosuke; Kochi, Keiko; Yasoshima, Kuniaki; Arai, Takashi

    2016-02-01

    Pituitary stalk transection syndrome (PSTS) is a rare complication that can accompany breech delivery. Early diagnosis of this syndrome is difficult, and it may cause a serious delay in the diagnosis. We present a case of PSTS ascertained after breech delivery. A 20-year-old woman presented with primary amenorrhea. The patient was born by breech delivery and had a history of treatment for pituitary dwarfism. Her laboratory findings showed pituitary hypothyroidism, and hormone replacement therapy was initiated. At 28 years old, she became pregnant and had a normal delivery at 38 weeks' gestation. One year after delivery, her thyroid hormone level changed. Laboratory test showed adrenocortical insufficiency, and magnetic resonance imaging of the pituitary gland showed transection of the pituitary stalk and development of an ectopic posterior lobe. These findings were compatible with PSTS. When a patient who has been born by breech delivery presents with symptoms of pituitary deficiency, PSTS should be considered in the differential diagnosis. © 2015 Japan Society of Obstetrics and Gynecology.

  20. Extreme insular dwarfism evolved in a mammoth.

    Science.gov (United States)

    Herridge, Victoria L; Lister, Adrian M

    2012-08-22

    The insular dwarfism seen in Pleistocene elephants has come to epitomize the island rule; yet our understanding of this phenomenon is hampered by poor taxonomy. For Mediterranean dwarf elephants, where the most extreme cases of insular dwarfism are observed, a key systematic question remains unresolved: are all taxa phyletic dwarfs of a single mainland species Palaeoloxodon antiquus (straight-tusked elephant), or are some referable to Mammuthus (mammoths)? Ancient DNA and geochronological evidence have been used to support a Mammuthus origin for the Cretan 'Palaeoloxodon' creticus, but these studies have been shown to be flawed. On the basis of existing collections and recent field discoveries, we present new, morphological evidence for the taxonomic status of 'P'. creticus, and show that it is indeed a mammoth, most probably derived from Early Pleistocene Mammuthus meridionalis or possibly Late Pliocene Mammuthus rumanus. We also show that Mammuthus creticus is smaller than other known insular dwarf mammoths, and is similar in size to the smallest dwarf Palaeoloxodon species from Sicily and Malta, making it the smallest mammoth species known to have existed. These findings indicate that extreme insular dwarfism has evolved to a similar degree independently in two elephant lineages.

  1. Neutral sphingomyelinase (SMPD3) deficiency causes a novel form of chondrodysplasia and dwarfism that is rescued by Col2A1-driven smpd3 transgene expression.

    Science.gov (United States)

    Stoffel, Wilhelm; Jenke, Britta; Holz, Barbara; Binczek, Erika; Günter, Robert Heinz; Knifka, Jutta; Koebke, Jürgen; Niehoff, Anja

    2007-07-01

    Neutral sphingomyelinase SMPD3 (nSMase2), a sphingomyelin phosphodiesterase, resides in the Golgi apparatus and is ubiquitously expressed. Gene ablation of smpd3 causes a generalized prolongation of the cell cycle that leads to late embryonic and juvenile hypoplasia because of the SMPD3 deficiency in hypothalamic neurosecretory neurons. We show here that this novel form of combined pituitary hormone deficiency is characterized by the perturbation of the hypothalamus-pituitary growth axis, associated with retarded chondrocyte development and enchondral ossification in the epiphyseal growth plate. To study the contribution by combined pituitary hormone deficiency and by the local SMPD3 deficiency in the epiphyseal growth plate to the skeletal phenotype, we introduced the full-length smpd3 cDNA transgene under the control of the chondrocyte-specific promoter Col2a1. A complete rescue of the smpd3(-/-) mouse from severe short-limbed skeletal dysplasia was achieved. The smpd3(-/-) mouse shares its dwarf and chondrodysplasia phenotype with the most common form of human achondrodysplasia, linked to the fibroblast-growth-factor receptor 3 locus, not linked to deficits in the hypothalamic-pituitary epiphyseal growth plate axis. The rescue of smpd3 in vivo has implications for future research into dwarfism and, particularly, growth and development of the skeletal system and for current screening and future treatment of combined dwarfism and chondrodysplasia.

  2. Neutral Sphingomyelinase (SMPD3) Deficiency Causes a Novel Form of Chondrodysplasia and Dwarfism That Is Rescued by Col2A1-Driven smpd3 Transgene Expression

    Science.gov (United States)

    Stoffel, Wilhelm; Jenke, Britta; Holz, Barbara; Binczek, Erika; Günter, Robert Heinz; Knifka, Jutta; Koebke, Jürgen; Niehoff, Anja

    2007-01-01

    Neutral sphingomyelinase SMPD3 (nSMase2), a sphingomyelin phosphodiesterase, resides in the Golgi apparatus and is ubiquitously expressed. Gene ablation of smpd3 causes a generalized prolongation of the cell cycle that leads to late embryonic and juvenile hypoplasia because of the SMPD3 deficiency in hypothalamic neurosecretory neurons. We show here that this novel form of combined pituitary hormone deficiency is characterized by the perturbation of the hypothalamus-pituitary growth axis, associated with retarded chondrocyte development and enchondral ossification in the epiphyseal growth plate. To study the contribution by combined pituitary hormone deficiency and by the local SMPD3 deficiency in the epiphyseal growth plate to the skeletal phenotype, we introduced the full-length smpd3 cDNA transgene under the control of the chondrocyte-specific promoter Col2a1. A complete rescue of the smpd3−/− mouse from severe short-limbed skeletal dysplasia was achieved. The smpd3−/− mouse shares its dwarf and chondrodysplasia phenotype with the most common form of human achondrodysplasia, linked to the fibroblast-growth-factor receptor 3 locus, not linked to deficits in the hypothalamic-pituitary epiphyseal growth plate axis. The rescue of smpd3 in vivo has implications for future research into dwarfism and, particularly, growth and development of the skeletal system and for current screening and future treatment of combined dwarfism and chondrodysplasia. PMID:17591962

  3. Dwarfism in Mice Lacking Collagen-binding Integrins α2β1 and α11β1 Is Caused by Severely Diminished IGF-1 Levels*

    Science.gov (United States)

    Blumbach, Katrin; Niehoff, Anja; Belgardt, Bengt F.; Ehlen, Harald W. A.; Schmitz, Markus; Hallinger, Ralf; Schulz, Jan-Niklas; Brüning, Jens C.; Krieg, Thomas; Schubert, Markus; Gullberg, Donald; Eckes, Beate

    2012-01-01

    Mice with a combined deficiency in the α2β1 and α11β1 integrins lack the major receptors for collagen I. These mutants are born with inconspicuous differences in size but develop dwarfism within the first 4 weeks of life. Dwarfism correlates with shorter, less mineralized and functionally weaker bones that do not result from growth plate abnormalities or osteoblast dysfunction. Besides skeletal dwarfism, internal organs are correspondingly smaller, indicating proportional dwarfism and suggesting a systemic cause for the overall size reduction. In accordance with a critical role of insulin-like growth factor (IGF)-1 in growth control and bone mineralization, circulating IGF-1 levels in the sera of mice lacking either α2β1 or α11β1 or both integrins were sharply reduced by 39%, 64%, or 81% of normal levels, respectively. Low hepatic IGF-1 production resulted from diminished growth hormone-releasing hormone expression in the hypothalamus and, subsequently, reduced growth hormone expression in the pituitary glands of these mice. These findings point out a novel role of collagen-binding integrin receptors in the control of growth hormone/IGF-1-dependent biological activities. Thus, coupling hormone secretion to extracellular matrix signaling via integrins represents a novel concept in the control of endocrine homeostasis. PMID:22210772

  4. Dwarfism in mice lacking collagen-binding integrins α2β1 and α11β1 is caused by severely diminished IGF-1 levels.

    Science.gov (United States)

    Blumbach, Katrin; Niehoff, Anja; Belgardt, Bengt F; Ehlen, Harald W A; Schmitz, Markus; Hallinger, Ralf; Schulz, Jan-Niklas; Brüning, Jens C; Krieg, Thomas; Schubert, Markus; Gullberg, Donald; Eckes, Beate

    2012-02-24

    Mice with a combined deficiency in the α2β1 and α11β1 integrins lack the major receptors for collagen I. These mutants are born with inconspicuous differences in size but develop dwarfism within the first 4 weeks of life. Dwarfism correlates with shorter, less mineralized and functionally weaker bones that do not result from growth plate abnormalities or osteoblast dysfunction. Besides skeletal dwarfism, internal organs are correspondingly smaller, indicating proportional dwarfism and suggesting a systemic cause for the overall size reduction. In accordance with a critical role of insulin-like growth factor (IGF)-1 in growth control and bone mineralization, circulating IGF-1 levels in the sera of mice lacking either α2β1 or α11β1 or both integrins were sharply reduced by 39%, 64%, or 81% of normal levels, respectively. Low hepatic IGF-1 production resulted from diminished growth hormone-releasing hormone expression in the hypothalamus and, subsequently, reduced growth hormone expression in the pituitary glands of these mice. These findings point out a novel role of collagen-binding integrin receptors in the control of growth hormone/IGF-1-dependent biological activities. Thus, coupling hormone secretion to extracellular matrix signaling via integrins represents a novel concept in the control of endocrine homeostasis.

  5. [The history of the pituitary gland: evolution of mental representation and concepts over time].

    Science.gov (United States)

    Jedidi, H; Jedidi, Z; Beckers, A

    2014-02-01

    The hypothalamo pituitary axis, as the true conductor of the endocrine orchestra, is frequently involved in a large variety of pathological conditions such as acromegaly, behavioral disorders, obesity or dwarfism. It is paradoxical to note that, in spite of its importance, this system has been almost ignored by the physiologists of the late centuries. From the physiological conceptions of the physicians and philosophers of antiquity to the theories of the medieval and of the Renaissance physiologists, we will try to understand why the role of pituitary remained so long unrecognized.

  6. Long-term effects of external radiation on the pituitary and thyroid glands

    International Nuclear Information System (INIS)

    Fuks, Z.; Glatstein, E.; Marsa, G.W.; Bagshaw, M.A.; Kaplan, H.S.

    1976-01-01

    Chronic damage following external irradiation of the normal pituitary and thyroid glands, delivered incidentally during radiotherapy of neoplasms of the head and neck may be more common than has been appreciated in the past. A case of a child who developed pituitary dwarfism 5 1 / 2 years after radiation therapy had been delivered for an embryonal rhabdomyosarcoma of the nasopharynx is described. A review of similar cases from the literature is presented. Likewise, external irradiation of the normal thyroid gland produces a spectrum of radiation-induced syndromes. Clinical damage to the pituitary and thyroid glands is usually manifested months to years after treatment and is preceded by a long subclinical phase. A careful exclusion of these glands from radiation treatment fields is recommended whenever possible. An early detection of endocrine function abnormalities in patients receiving radiation to these glands is desirable, since appropriate treatment may prevent the late deleterious effects of external irradiation of the pituitary and thyroid glands

  7. [Psychosocial dwarfism, a reality: Case report].

    Science.gov (United States)

    Mariani, A; Chalies, S; Jeandel, C; Rodière, M

    2010-05-01

    Psychosocial dwarfism is a rare condition, but can still be observed. We report the case of a 5-year-old girl seen in our clinic for severe growth retardation that had been evolving for several years. A growth arrest was observed beginning at the age of 3.5years. Initial clinical examination and biological investigations were negative. As the child was hospitalized, serious disturbances in mother-child relations were observed. A significant modification of the child's behavior was observed when the mother was absent. Following questioning, the mother admitted social problems; the pregnancy had not been desired and this contributed to a lack of attachment between the mother and the child. Psychosocial dwarfism seems to originate from serious disturbances in the mother-child relationship. It seems to be caused by a partial growth hormone deficiency and a frequent context of malnutrition due to food behavior disorders. Family problems need to be taken into account and intensive medical and psychological follow-up is required. Prognosis is good if an early diagnosis is made and followed with a close and prolonged follow-up. Copyright 2010 Elsevier Masson SAS. All rights reserved.

  8. Pituitary Tumors: Condition Information

    Science.gov (United States)

    ... hormones. They can press on or damage the pituitary gland and prevent it from secreting adequate levels of hormones. National Institute of Neurological Disorders and Stroke. (2010). NINDS pituitary tumors information page . ...

  9. Pituitary tumors containing cholecystokinin

    DEFF Research Database (Denmark)

    Rehfeld, J F; Lindholm, J; Andersen, B N

    1987-01-01

    We found small amounts of cholecystokinin in the normal human adenohypophysis and therefore examined pituitary tumors from 87 patients with acromegaly, Cushing's disease, Nelson's syndrome, prolactinoma, or inactive pituitary adenomas. Five adenomas associated with Nelson's syndrome contained......'s disease and 7 acromegaly with adenomas containing ACTH. The cholecystokinin peptides from the tumors were smaller and less sulfated than cholecystokinin from normal pituitary glands. We conclude that ACTH-producing pituitary cells may also produce an altered form of cholecystokinin....

  10. A new type of lethal short-limbed dwarfism

    International Nuclear Information System (INIS)

    Nairn, E.R.; Chapman, S.

    1989-01-01

    Details are presented of a most unusual osteo-chondrodysplasia which presents with lethal neonatal short-limbed dwarfism, defective ossification and nodular calcification with cartilage. The features resemble one case previously described in the literature. (orig.)

  11. New type of lethal short-limbed dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Nairn, E.R.; Chapman, S.

    1989-05-01

    Details are presented of a most unusual osteo-chondrodysplasia which presents with lethal neonatal short-limbed dwarfism, defective ossification and nodular calcification with cartilage. The features resemble one case previously described in the literature.

  12. Laron's Dwarfism: Studies on the Nature of the Defect

    Science.gov (United States)

    Elders, M. Joycelyn; And Others

    1973-01-01

    Laron's syndrome, characterized by severe dwarfism, high circulating levels of immunoreactive growth hormone, and failure to generate somatomedin after administration of human growth hormone, was studied in a boy 7 1/2 years of age. (MC)

  13. Inheritance of proportionate dwarfism in Angus cattle.

    Science.gov (United States)

    Latter, M R; Latter, B D H; Wilkins, J F; Windsor, P A

    2006-04-01

    To determine the mode of inheritance of congenital proportionate dwarfism in Angus and Angus crossbred cattle, initially detected in two commercial beef herds in northern New South Wales. Matings of normal carrier sires to unrelated cows of diverse breeds, and of one carrier sire to his unaffected daughters. An unrelated Piedmontese bull was also mated to unaffected daughters of the carrier sires. Two carrier Angus bulls and nine unaffected daughters, all of whom were completely indistinguishable from normal animals, were purchased for controlled breeding studies under known nutritional and disease conditions. Affected and carrier individuals were examined for the presence of obvious chromosomal abnormalities. Angus dwarfism has been successfully reproduced under controlled experimental conditions over successive years using unrelated dams and is undoubtedly heritable. The high frequency of occurrence of affected individuals (23/61 = 0.38 +/- .06) among the progeny of matings of the Angus sires to unrelated females of diverse breeding is not compatible with recessive inheritance, because of the negligible frequency of proportionate dwarfism in the breeds of the dams. Both paternal and maternal transmission of the defect was demonstrated, so that imprinting in the strict sense of a gene that is only expressed when received from the male parent appears not to be involved. Tested individuals showed no evidence of gross chromosomal abnormality. Dominant autosomal inheritance with incomplete penetrance was indicated by the lack of expression of the defective gene in the two Angus sires and in three unaffected daughters who produced dwarf calves from matings to the Piedmontese bull. The mode of inheritance is that of a single autosomal dominant gene with a penetrance coefficient of 0.75 +/- 0.12, estimated from the observed incidence of 23/61 affected offspring of the two carrier Angus bulls mated to unrelated dams. Simple genetic models involving either (i) an unstable

  14. Torrance type of lethal neonatal short-limbed platyspondylic dwarfism

    International Nuclear Information System (INIS)

    Kaibara, N.; Yokoyama, K.; Nakano, H.

    1983-01-01

    A rare case of lethal neonatal short-limbed platyspondylic dwarfism is described. Roentgenographic features of this case, distinctly different from those of the classical thanatophoric dysplasia, are indistinguishable from the other three types of short-limbed platyspondylic dwarfism. Histologic features of the cartilage in this case are not very different from those of the Torrance type, but the presence of focal disruption of column formation in this case suggests a wider spectrum for this entity. (orig.)

  15. Torrance type of lethal neonatal short-limbed platyspondylic dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Kaibara, N.; Yokoyama, K.; Nakano, H.

    1983-06-01

    A rare case of lethal neonatal short-limbed platyspondylic dwarfism is described. Roentgenographic features of this case, distinctly different from those of the classical thanatophoric dysplasia, are indistinguishable from the other three types of short-limbed platyspondylic dwarfism. Histologic features of the cartilage in this case are not very different from those of the Torrance type, but the presence of focal disruption of column formation in this case suggests a wider spectrum for this entity.

  16. Microcephalic osteodysplastic primordial dwarfism type 1.

    Science.gov (United States)

    Ferrell, Steven; Johnson, Aaron; Pearson, Waylon

    2016-06-16

    Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is an uncommon cause of microcephaly and intrauterine growth retardation in a newborn. Early identifying features include but are not limited to sloping forehead, micrognathia, sparse hair, including of eyebrows and short limbs. Immediate radiological findings may include partial or complete agenesis of the corpus callosum, interhemispheric cyst and shallow acetabula leading to dislocation. Genetic testing displaying a mutation in RNU4ATAC gene is necessary for definitive diagnosis. Early identification is important as MOPD1 is an autosomal recessive condition and could present in subsequent pregnancies. The purpose of this case is to both identify and describe some common physical findings related to MOPD1. We present a case of MOPD1 in a girl born to non-consanguineous parents that was distinct for subglottic stenosis and laryngeal cleft. 2016 BMJ Publishing Group Ltd.

  17. Current insights into the molecular genetic basis of dwarfism in livestock.

    Science.gov (United States)

    Boegheim, Iris J M; Leegwater, Peter A J; van Lith, Hein A; Back, Willem

    2017-06-01

    Impairment of bone growth at a young age leads to dwarfism in adulthood. Dwarfism can be categorised as either proportionate, an overall size reduction without changes in body proportions, or disproportionate, a size reduction in one or more limbs, with changes in body proportions. Many forms of dwarfism are inherited and result from structural disruptions or disrupted signalling pathways. Hormonal disruptions are evident in Brooksville miniature Brahman cattle and Z-linked dwarfism in chickens, caused by mutations in GH1 and GHR. Furthermore, mutations in IHH are the underlying cause of creeper achondroplasia in chickens. Belgian blue cattle display proportionate dwarfism caused by a mutation in RNF11, while American Angus cattle dwarfism is caused by a mutation in PRKG2. Mutations in EVC2 are associated with dwarfism in Japanese brown cattle and Tyrolean grey cattle. Fleckvieh dwarfism is caused by mutations in the GON4L gene. Mutations in COL10A1 and COL2A1 cause dwarfism in pigs and Holstein cattle, both associated with structural disruptions, while several mutations in ACAN are associated with bulldog-type dwarfism in Dexter cattle and dwarfism in American miniature horses. In other equine breeds, such as Shetland ponies and Friesian horses, dwarfism is caused by mutations in SHOX and B4GALT7. In Texel sheep, chondrodysplasia is associated with a deletion in SLC13A1. This review discusses genes known to be involved in these and other forms of dwarfism in livestock. Copyright © 2017 Elsevier Ltd. All rights reserved.

  18. Cushing's disease: pituitary imaging

    International Nuclear Information System (INIS)

    Tripathi, S.; Ammini, A.C.; Bhatia, R.; Gupta, R.; Berry, M.; Sarkar, C.; Mahajan, H.

    1994-01-01

    Fourteen patients with adrenocorticotropic hormone (ACTH)-dependent hypercortisolism underwent pituitary scanning with computed axial tomography (CT) and magnetic resonance imaging (MRI). Computed tomography revealed pituitary macroadenomas in two patients, pituitary hyperplasia in one and suspicion of pituitary microadenoma in one. Thirteen patients underwent MRI. One with a macroadenoma diagnosed on CT did not undergo MRI. The MRI revealed a pituitary macroadenoma in one, microadenoma in three and hyperplasia in two cases. Magnetic resonance imaging following gadolinium diethylene triamine penta acetic acid (Gd-DTPA) enhancement revealed four more pituitary microadenomas. All patients who had pituitary adenomas (micro and macro) and hyperplasia underwent trans-sphenoidal pituitary surgery. One of the two patients, who had an enlarged pituitary on imaging but no demonstrable adenoma, was found to have a microadenoma at surgery. It is concluded that patients with ACTH dependent hypercortisolism should undergo MRI of the pituitary gland to identify/localize corticotroph pituitary ademonas. The study should include Gd-DTPA enhancement in cases where the scan is normal. 2 refs., 3 tabs., 3 figs

  19. CASE REPORT Acute pituitary apoplexy complicating a pituitary ...

    African Journals Online (AJOL)

    SA JOURNAL OF RADIOLOGY • December 2010. CASE REPORT. Acute pituitary apoplexy complicating a pituitary macroadenoma. Abstract. Pituitary apoplexy is a rare but potentially life-threatening condition caused by either haemorrhage or infarction of the pituitary gland. In most cases, a pre-existing pituitary ...

  20. Insights Into Severe Form of Dwarfism Could Lead to New Treatment Strategies

    Science.gov (United States)

    ... Spotlight on Research Insights Into Severe Form of Dwarfism Could Lead to New Treatment Strategies By Colleen ... a mutation that causes a severe form of dwarfism have led to a better understanding of the ...

  1. Mesomelic dwarfism of the Langer type as a homozygous form of dyschondrosteosis

    Energy Technology Data Exchange (ETDEWEB)

    Kemperdick, H.; Majewski, F.

    1982-05-01

    A family is described containing a daughter suffering from mesomelic dwarfism of the Langer type and both parents showing a dyschondrosteosis. This family supports the thesis that mesomelic dwarfism of the Langer type represents the homozygous form of dyschondrosteosis.

  2. Pituitary granulomatosis with polyangiitis

    OpenAIRE

    Slabu, Hannah; Arnason, Terra

    2013-01-01

    Granulomatosis with polyangiitis (GPA) is a small vessel vasculitis that can affect several organs, most commonly the respiratory tract and kidneys. Pituitary involvement is exceptionally rare. Most case reports of GPA of the pituitary gland have been described in middle-aged women who have concomitant ears, nose and throat involvement. The most frequent manifestation is diabetes insipidus due to a preponderance of posterior pituitary infiltration. The majority of cases sustain permanent dama...

  3. Mechanisms and pathways of growth failure in primordial dwarfism.

    Science.gov (United States)

    Klingseisen, Anna; Jackson, Andrew P

    2011-10-01

    The greatest difference between species is size; however, the developmental mechanisms determining organism growth remain poorly understood. Primordial dwarfism is a group of human single-gene disorders with extreme global growth failure (which includes Seckel syndrome, microcephalic osteodysplastic primordial dwarfism I [MOPD] types I and II, and Meier-Gorlin syndrome). Ten genes have now been identified for microcephalic primordial dwarfism, encoding proteins involved in fundamental cellular processes including genome replication (ORC1 [origin recognition complex 1], ORC4, ORC6, CDT1, and CDC6), DNA damage response (ATR [ataxia-telangiectasia and Rad3-related]), mRNA splicing (U4atac), and centrosome function (CEP152, PCNT, and CPAP). Here, we review the cellular and developmental mechanisms underlying the pathogenesis of these conditions and address whether further study of these genes could provide novel insight into the physiological regulation of organism growth.

  4. EMK protein kinase-null mice: dwarfism and hypofertility associated with alterations in the somatotrope and prolactin pathways.

    Science.gov (United States)

    Bessone, S; Vidal, F; Le Bouc, Y; Epelbaum, J; Bluet-Pajot, M T; Darmon, M

    1999-10-01

    Gene trapping was used in embryonic stem (ES) cells in an attempt to inactivate genes involved in development. The Emk (ELKL motif kinase) gene has been disrupted and a mutant mouse line derived. Previous work had shown that EMK kinases, called MARK in the rat, exert a major control on microtubule stability by phosphorylating microtubule-associated proteins and that genes homologous to Emk in yeast or Caenorhabditis elegans are essential for cell and embryonic polarity. Although we found the Emk gene to be active in the preimplantation mouse embryo and then to show a widespread expression, Emk-null mice had no embryonic defect and were viable. They show an overall proportionate dwarfism and a peculiar hypofertility: homozygotes are not fertile when intercrossed, but are fertile in other types of crosses. Insulin-like growth factor I (IGF I) and IGF-binding protein 3 (IGFBP3) were reduced in the plasma of homozygotes of both sexes. A direct implication of the EMK kinase in IGF I plasmatic production is unlikely because the Emk gene does not seem to be expressed in hepatocytes. Nevertheless, GH assayed at arbitrary times in plasma did not show differences between genotypes and GH concentrations in pituitary extracts were not found to be altered in homozygotes. Our results, though, do not exclude the possibility that in the mutants the overall quantity of GH secreted daily is reduced. Our observation of a smaller size of the pituitaries of the mutants is in favor of this hypothesis. The prolactin concentration in the pituitaries was much lowered in homozygous females, but it was normal in males. The possible involvement of EMK protein kinase in hormone secretion in the pituitary and/or the hypothalamus, via the microtubule network, is discussed. Copyright 1999 Academic Press.

  5. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

    NARCIS (Netherlands)

    Rauch, Anita; Thiel, Christian T.; Schindler, Detlev; Wick, Ursula; Crow, Yanick J.; Ekici, Arif B.; van Essen, Anthonie J.; Goecke, Timm O.; Al-Gazali, Lihadh; Chrzanowska, Krystyna H.; Zweier, Christiane; Brunner, Han G.; Becker, Kristin; Curry, Cynthia J.; Dallapiccola, Bruno; Devriendt, Koenraad; Dörfler, Arnd; Kinning, Esther; Megarbane, André; Meinecke, Peter; Semple, Robert K.; Spranger, Stephanie; Toutain, Annick; Trembath, Richard C.; Voss, Egbert; Wilson, Louise; Hennekam, Raoul; de Zegher, Francis; Dörr, Helmuth-Günther; Reis, André

    2008-01-01

    Fundamental processes influencing human growth can be revealed by studying extreme short stature. Using genetic linkage analysis, we find that biallelic loss-of-function mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism

  6. The 3-M syndrome. A heritable low birthweight dwarfism.

    Science.gov (United States)

    Van Goethem, H; Malvaux, P

    1987-10-01

    Two male siblings and one girl with the 3-M syndrome are reported. The main clinical features include low birthweight, proportionate dwarfism, hatched-shaped cranio-facial configuration, abnormalities of mouth and teeth, short broad neck with prominent trapezius, pectus deformity, transverse grooves of anterior chest, and winged scapulae.

  7. Anterior pituitary failure (panhypopituitarism) with balanced chromosome translocation 46,XY,t(11;22)(q24;q13).

    Science.gov (United States)

    Yang, C Y; Chou, C W; Chen, S Y; Cheng, H M

    2001-04-01

    Hypopituitarism is the clinical syndrome that results from failure of the anterior pituitary gland to produce its hormones. Hypopituitarism can result from: (1) intrinsic or primary pituitary disease; (2) intrinsic hypothalamic or secondary pituitary disease; or (3) extrinsic extrasellar or parasellar disease. The etiologies of primary hypopituitarism are miscellaneous. The dominant clinical picture of hypopituitarism in the adult is that of hypogonadism. Reports have associated hypopituitarism with anti-pituitary-antibodies, hereditary syndrome and chromosome defects, but hypopituitarism has rarely been associated with balanced chromosome translocation (11;22)(q24;q13). Here, we describe a case of anterior pituitary failure with balanced chromosome translocation. A 19-year-old Chinese teenager presented with failure of pubertal development and sexual infantilism. On examination, the patient had the classic appearance of hypogonadism. Endocrine studies and three combined pituitary function tests revealed panhypopituitarism. A chromosomal study revealed 46,XY,t(11;22)(q24;q13), a balanced translocation between 11q24 and 22q13. Chest films showed delayed fusion of bilateral humeral head epiphyses and bilateral acromions. Scrotal sonography revealed testes were small bilaterally. Magnetic resonance imaging (MRI) of the sella revealed pituitary dwarfism. The patient received 19 months replacement therapy, including steroids (prednisolone 5 mg each day), L-thyroxine (Eltroxin 100 ug each day), and testosterone enanthate 250 mg every two weeks. His height increased 4 cm with secondary sexual characteristics developed, and muscle power increased.

  8. Pituitary Gland Disorders Overview

    Science.gov (United States)

    ... Peer Support Resources Diseases and Conditions Adrenal Disorders Osteoporosis and Bone Health Children and Teen Health Diabetes Heart Health Men's Health Rare Diseases Pituitary Disorders Thyroid Disorders Transgender Health Obesity and Weight Management Women's Health You and Your ...

  9. Pregnancy in a woman with proportionate (primordial) dwarfism: a case report and literature review

    OpenAIRE

    Vance, C E; Desmond, M; Robinson, A; Johns, J; Zacharin, M; Savarirayan, R; König, K; Warrillow, S; Walker, S P

    2012-01-01

    Primordial dwarfism is a rare form of severe proportionate dwarfism which poses significant challenges in pregnancy. A 27-year-old with primordial dwarfism (height 97 cm, weight 22 kg) and coexisting morbidities of familial hypercholesterolaemia and hypertension presented to our unit. Early pregnancy was complicated by difficult blood pressure control, sinus tachycardia, biochemical hyperthyroidism and insulin-requiring gestational diabetes. Delivery was indicated at 24 weeks with uncontrolla...

  10. Pituitary gland tumors

    International Nuclear Information System (INIS)

    Jesser, J.; Schlamp, K.; Bendszus, M.

    2014-01-01

    This article gives an overview of the most common tumors of the pituitary gland and the differential diagnostics with special emphasis on radiological diagnostic criteria. A selective search of the literature in PubMed was carried out. Pituitary adenomas constitute 10-15 % of all intracranial tumors and are the most common tumors of the sellar region. Tumors smaller than 1 cm in diameter are called microadenomas while those larger than 1 cm in diameter are called macroadenomas. Approximately 65 % of pituitary gland adenomas secrete hormones whereby approximately 50 % secrete prolactin, 10 % secrete growth hormone (somatotropin) and 6 % secrete corticotropin. Other tumors located in the sella turcica can also cause endocrinological symptoms, such as an oversecretion of pituitary hormone or pituitary insufficiency by impinging on the pituitary gland or its stalk. When tumors spread into the space cranial to the sella turcica, they can impinge on the optic chiasm and cause visual disorders. A common differential diagnosis of a sellar tumor is a craniopharyngeoma. In children up to 10 % of all intracranial tumors are craniopharyngeomas. Other differential diagnoses for sellar tumors are metastases, meningiomas, epidermoids and in rare cases astrocytomas, germinomas or Rathke cleft cysts As these tumors are located in an anatomically complex region of the skull base and are often very small, a highly focused imaging protocol is required. The currently favored modality is magnetic resonance imaging (MRI) with the administration of a contrast agent. The sellar region should be mapped in thin slices. In cases of suspected microadenoma the imaging protocol should also contain a sequence with dynamic contrast administration in order to assess the specific enhancement characteristics of the tumor and the pituitary gland. (orig.) [de

  11. [Pituitary gland tumors].

    Science.gov (United States)

    Jesser, J; Schlamp, K; Bendszus, M

    2014-10-01

    This article gives an overview of the most common tumors of the pituitary gland and the differential diagnostics with special emphasis on radiological diagnostic criteria. A selective search of the literature in PubMed was carried out. Pituitary adenomas constitute 10-15% of all intracranial tumors and are the most common tumors of the sellar region. Tumors smaller than 1 cm in diameter are called microadenomas while those larger than 1 cm in diameter are called macroadenomas. Approximately 65% of pituitary gland adenomas secrete hormones whereby approximately 50% secrete prolactin, 10% secrete growth hormone (somatotropin) and 6% secrete corticotropin. Other tumors located in the sella turcica can also cause endocrinological symptoms, such as an oversecretion of pituitary hormone or pituitary insufficiency by impinging on the pituitary gland or its stalk. When tumors spread into the space cranial to the sella turcica, they can impinge on the optic chiasm and cause visual disorders. A common differential diagnosis of a sellar tumor is a craniopharyngeoma. In children up to 10% of all intracranial tumors are craniopharyngeomas. Other differential diagnoses for sellar tumors are metastases, meningiomas, epidermoids and in rare cases astrocytomas, germinomas or Rathke cleft cysts As these tumors are located in an anatomically complex region of the skull base and are often very small, a highly focused imaging protocol is required. The currently favored modality is magnetic resonance imaging (MRI) with the administration of a contrast agent. The sellar region should be mapped in thin slices. In cases of suspected microadenoma the imaging protocol should also contain a sequence with dynamic contrast administration in order to assess the specific enhancement characteristics of the tumor and the pituitary gland.

  12. Case report: Anesthesia management for emergency cesarean section in a patient with dwarfism.

    Science.gov (United States)

    Li, Xiaoxi; Duan, Hongjun; Zuo, Mingzhang

    2015-04-28

    Dwarfism is characterized by short stature. Pregnancy in women with dwarfism is uncommon and cesarean section is generally indicated for delivery. Patients with dwarfism are high-risk population for both general and regional anesthesia, let alone in an emergency surgery. In this case report we present a 27-year-old Chinese puerpera with dwarfism who underwent emergency cesarean section under combined spinal and epidural anesthesia. It is an original case report, which provides instructive significance for anesthesia management especially combined spinal and epidural anesthesia in this rare condition. There was only one former article that reported a puerpera who underwent combined spinal and epidural anesthesia for a selective cesarean section.

  13. Neonatal lethal dwarfism with distinct skeletal malformations - a separate entity?

    Energy Technology Data Exchange (ETDEWEB)

    Rosendahl, K.; Maurseth, K.; Olsen, Oe.E. [Dept. of Paediatric Radiology, Haukeland University Hospital, Bergen (Norway); Halvorsen, O.J. [Dept. of Pathology, Haukeland University Hospital, Bergen (Norway); Gjelland, K. [Dept. of Gynaecology, Haukeland University Hospital, Bergen (Norway); Engebretsen, L. [Dept. of Genetics, Haukeland University Hospital, Bergen (Norway)

    2001-09-01

    We describe a case of neonatal lethal dwarfism characterised by short trunk, short, stick-like tubular bones, deficient ossification of the axial skeleton and broad, sclerotic horizontal ribs. Two similar cases have previously been reported as examples of the Neu-Laxova syndrome. However, the radiological findings of the Neu-Laxova syndrome, as reported in 16 out of 40 documented cases, show a heterogeneous pattern of minor features, which differ distinctively from those found in the previous two cases and by us. A literature research did not reveal similar cases, and we therefore suggest that our case, together with the two previous cases, may represent a new distinctive form of neonatal lethal dwarfism. (orig.)

  14. Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.

    Science.gov (United States)

    Saito, Shinta; Kurosawa, Aya; Adachi, Noritaka

    2016-08-01

    In successive reports from 2014 to 2015, X-ray repair cross-complementing protein 4 (XRCC4) has been identified as a novel causative gene of primordial dwarfism. XRCC4 is indispensable for non-homologous end joining (NHEJ), the major pathway for repairing DNA double-strand breaks. As NHEJ is essential for V(D)J recombination during lymphocyte development, it is generally believed that abnormalities in XRCC4 cause severe combined immunodeficiency. Contrary to expectations, however, no overt immunodeficiency has been observed in patients with primordial dwarfism harboring XRCC4 mutations. Here, we describe the various XRCC4 mutations that lead to disease and discuss their impact on NHEJ and V(D)J recombination.

  15. Neonatal lethal dwarfism with distinct skeletal malformations - a separate entity?

    International Nuclear Information System (INIS)

    Rosendahl, K.; Maurseth, K.; Olsen, Oe.E.; Halvorsen, O.J.; Gjelland, K.; Engebretsen, L.

    2001-01-01

    We describe a case of neonatal lethal dwarfism characterised by short trunk, short, stick-like tubular bones, deficient ossification of the axial skeleton and broad, sclerotic horizontal ribs. Two similar cases have previously been reported as examples of the Neu-Laxova syndrome. However, the radiological findings of the Neu-Laxova syndrome, as reported in 16 out of 40 documented cases, show a heterogeneous pattern of minor features, which differ distinctively from those found in the previous two cases and by us. A literature research did not reveal similar cases, and we therefore suggest that our case, together with the two previous cases, may represent a new distinctive form of neonatal lethal dwarfism. (orig.)

  16. Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.

    Science.gov (United States)

    Bober, Michael B; Jackson, Andrew P

    2017-04-01

    This review will provide an overview of the microcephalic primordial dwarfism (MPD) class of disorders and provide the reader comprehensive clinical review with suggested care guidelines for patients with microcephalic osteodysplastic primordial dwarfism, type II (MOPDII). Over the last 15 years, significant strides have been made in the diagnosis, natural history, and management of MOPDII. MOPDII is the most common and well described form of MPD. The classic features of the MPD group are severe pre- and postnatal growth retardation, with marked microcephaly. In addition to these features, individuals with MOPDII have characteristic facies, skeletal dysplasia, abnormal dentition, and an increased risk for cerebrovascular disease and insulin resistance. Biallelic loss-of-function mutations in the pericentrin gene cause MOPDII, which is inherited in an autosomal recessive manner.

  17. RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.

    Science.gov (United States)

    Shamseldin, Hanan; Alazami, Anas M; Manning, Melanie; Hashem, Amal; Caluseiu, Oana; Tabarki, Brahim; Esplin, Edward; Schelley, Susan; Innes, A Micheil; Parboosingh, Jillian S; Lamont, Ryan; Majewski, Jacek; Bernier, Francois P; Alkuraya, Fowzan S

    2015-12-03

    Primary microcephaly is a developmental brain anomaly that results from defective proliferation of neuroprogenitors in the germinal periventricular zone. More than a dozen genes are known to be mutated in autosomal-recessive primary microcephaly in isolation or in association with a more generalized growth deficiency (microcephalic primordial dwarfism), but the genetic heterogeneity is probably more extensive. In a research protocol involving autozygome mapping and exome sequencing, we recruited a multiplex consanguineous family who is affected by severe microcephalic primordial dwarfism and tested negative on clinical exome sequencing. Two candidate autozygous intervals were identified, and the second round of exome sequencing revealed a single intronic variant therein (c.2885+8A>G [p.Ser963(∗)] in RTTN exon 23). RT-PCR confirmed that this change creates a cryptic splice donor and thus causes retention of the intervening 7 bp of the intron and leads to premature truncation. On the basis of this finding, we reanalyzed the exome file of a second consanguineous family affected by a similar phenotype and identified another homozygous change in RTTN as the likely causal mutation. Combined linkage analysis of the two families confirmed that RTTN maps to the only significant linkage peak. Finally, through international collaboration, a Canadian multiplex family affected by microcephalic primordial dwarfism and biallelic mutation of RTTN was identified. Our results expand the phenotype of RTTN-related disorders, hitherto limited to polymicrogyria, to include microcephalic primordial dwarfism with a complex brain phenotype involving simplified gyration. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  18. Use of Zinkit in Combination Treatment of Patients with Dwarfism

    Directory of Open Access Journals (Sweden)

    O.V. Bolshova

    2013-02-01

    Full Text Available The article deals with the results of study of zinc content in children and adolescents with dwarfism due to somatotropic deficiency, and rationale for use of zinс-containing preparations (Zinkit, «Wörwag Pharma», Germany in complex treatment of such patients. The findings indicate the direct involvement of trace element zinc in the functioning of growth system of the child and of the advisability of Zinkit administration in complex treatment of patients with somatotropic deficiency.

  19. Acromesomelic dwarfism in a child with an interesting family history

    International Nuclear Information System (INIS)

    Borrelli, P.; Marini, R.; Fasanelli, S.

    1983-01-01

    Acromesomelic dwarfism is a rare skeletal disorder characterized by recessive autosomal transmission. A case is described in a boy 2 1/2 years old whose relatives (in a large number) showed a peculiar aspect of the upper extremities, and whose two grandparents were second cousins. Early diagnosis is important because it makes it possible to advise the parents with regard to the infant's prospects and the genetic implication. (orig.)

  20. Acromesomelic dwarfism in a child with an interesting family history

    Energy Technology Data Exchange (ETDEWEB)

    Borrelli, P.; Marini, R.; Fasanelli, S.

    1983-05-01

    Acromesomelic dwarfism is a rare skeletal disorder characterized by recessive autosomal transmission. A case is described in a boy 2 1/2 years old whose relatives (in a large number) showed a peculiar aspect of the upper extremities, and whose two grandparents were second cousins. Early diagnosis is important because it makes it possible to advise the parents with regard to the infant's prospects and the genetic implication.

  1. Current insights into the molecular genetic basis of dwarfism in livestock

    NARCIS (Netherlands)

    Boegheim, Iris J.M.; Leegwater, Peter A.J.; van Lith, Hein A.; Back, Willem

    2017-01-01

    Impairment of bone growth at a young age leads to dwarfism in adulthood. Dwarfism can be categorised as either proportionate, an overall size reduction without changes in body proportions, or disproportionate, a size reduction in one or more limbs, with changes in body proportions. Many forms of

  2. Current insight into the molecular genetic basis of dwarfism in livestock

    NARCIS (Netherlands)

    Boegheim, Iris J M; Leegwater, P.A.J.; van Lith, H.A.; Back, Willem

    2017-01-01

    Impairment of bone growth at a young age leads to dwarfism in adulthood. Dwarfism can be categorised as either proportionate, an overall size reduction without changes in body proportions, or disproportionate, a size reduction in one or more limbs, with changes in body proportions. Many forms of

  3. Mesomelic dwarfism of the Langer type as a homozygous form of dyschondrosteosis

    International Nuclear Information System (INIS)

    Kemperdick, H.; Majewski, F.; Duesseldorf Univ.

    1982-01-01

    A family is described containing a daughter suffering from mesomelic dwarfism of the Langer type and both parents showing a dyschondrosteosis. This family supports the thesis that mesomelic dwarfism of the Langer type represents the homozygous form of dyschondrosteosis. (orig.) [de

  4. Non-pituitary origin sellar tumours mimicking pituitary macroadenomas

    Energy Technology Data Exchange (ETDEWEB)

    Abele, T.A., E-mail: travaus@gmail.com [University of Texas Southwestern Medical Center at Dallas, Dallas, TX (United States); Yetkin, Z.F.; Raisanen, J.M.; Mickey, B.E.; Mendelsohn, D.B. [University of Texas Southwestern Medical Center at Dallas, Dallas, TX (United States)

    2012-08-15

    Although the large majority of sellar tumours are pituitary adenomas, several other pituitary and non-pituitary origin tumours arise in the sellar and parasellar regions. Given their location, non-adenomatous lesions frequently mimic pituitary macroadenomas and can pose a diagnostic challenge for the radiologist. Distinguishing rare sellar lesions from the common macroadenoma helps to direct the correct surgical approach and reduce the risk of incomplete resection and/or complications such as cerebrospinal fluid leak with the potential for meningitis. The purpose of this article is to review the imaging features of non-pituitary-origin sellar tumours, focusing on characteristics that may distinguish them from pituitary macroadenomas. Lesions include meningioma, metastatic disease, epidermoid cyst, germinoma, chondrosarcoma, giant cell tumour, and giant aneurysm.

  5. Hereditary dwarfism in yellow lupin (Lupinus luteus L

    Directory of Open Access Journals (Sweden)

    Tadeusz Kazimierski

    2015-01-01

    Full Text Available A dwarf plant was found in the F4 generation of a hybrid between two yellow lupin subspecies. Genetic analysis demonstrated that the dwarf grwoth is conditioned by one recessive factor which was named nanus. This factor acts pleiotroipically since it reduces the height, changes the morphological structure and some anatomical traits and reduces fertility in the dwarf plants. It is believed that in the chromosome with translocation a gene block arose in the F4, plant. These genes acting as a compact system cause dwarfism, changes in the anatomical structure and reduce fertility.

  6. Haemorrhagic pituitary tumours

    International Nuclear Information System (INIS)

    Lazaro, C.M.; Philippine General Hospital, Manila; Guo, W.Y.; Sami, M.; Hindmarsch, T.; Ericson, K.; Hulting, A.L.; Wersaell, J.

    1994-01-01

    In a group of 69 patients with pituitary tumours, 12 were found to have evidence of intratumoral haemorrhage on MRI, characterized by high signal intensity on short TR/TE sequences. This was verified in all but 1 patient. The majority of the bleedings occurred in macroadenomas. Five (42%) were prolactinomas and 4 (33%) were non-functioning adenomas. There were 2 GH- and 1 ACTH-secreting tumours. All 5 patients with prolactinomas were on bromocriptine medication. Two of the patients had a clinical picture of pituitary apoplexy. The haemorrhage was not large enough to prompt surgery in any of the patients. However, surgical verification of the diagnosis was obtained in 5 cases, while 6 patients were examined with follow-up MRI. (orig.)

  7. Radiosurgery for pituitary adenomas

    International Nuclear Information System (INIS)

    Castro, Douglas Guedes de; Salvajoli, Joao Victor; Canteras, Miguel Montes; Cecilio, Soraya A. Jorge

    2006-01-01

    Pituitary adenomas represent nearly 15% of all intracranial tumors. Multimodal treatment includes microsurgery, medical management and radiotherapy. Microsurgery is the primary recommendation for nonfunctioning and most of functioning adenomas, except for prolactinomas that are usually managed with dopamine agonist drugs. However, about 30% of patients require additional treatment after microsurgery for recurrent or residual tumors. In these cases, fractionated radiation therapy has been the traditional treatment. More recently, radiosurgery has been established as a treatment option. Radiosurgery allows the delivery of prescribed dose with high precision strictly to the target and spares the surrounding tissues. Therefore, the risks of hypopituitarism, visual damage and vasculopathy are significantly lower. Furthermore, the latency of the radiation response after radiosurgery is substantially shorter than that of fractionated radiotherapy. The goal of this review is to define the efficacy, safety and role of radiosurgery for treatment of pituitary adenomas and to present the preliminary results of our institution. (author)

  8. Pituitary stalk craniopharyngioma

    Science.gov (United States)

    Figueiredo, Eberval Gadelha; Welling, Leonardo Christiaan; de Faria, Jose Weber Vieira; Teixeira, Manoel Jacobsen

    2011-01-01

    Craniopharyngiomas are benign but aggressive neoplasms arising along the craniopharyngeal duct. It is frequently located in the suprasellar region. Primarily pituitary stalk craniopharyngioma is unusual and uncommonly early diagnosed, before it enlarges and extends to supra or parasselar region. This unusual location and the small size pose therapeutic dilemmas, since it has the ability to grow larger. Currently, no consensus exists regarding the optimal management. The authors have recommended complete resection. PMID:22715220

  9. Anesthetic management for Cesarean delivery in parturients with a diagnosis of dwarfism.

    Science.gov (United States)

    Lange, Elizabeth M S; Toledo, Paloma; Stariha, Jillian; Nixon, Heather C

    2016-08-01

    The literature on the anesthetic management of parturients with dwarfism is sparse and limited to isolated case reports. Pregnancy complications associated with dwarfism include an increased risk of respiratory compromise, an increased risk of Cesarean delivery, and an unpredictable degree of anesthesia with neuraxial techniques. Therefore, we conducted this retrospective review to evaluate the anesthetic management of parturients with a diagnosis of dwarfism. We used a query of billing data to identify short statured women who underwent a Cesarean delivery during May 1, 2008 to May 1, 2013. We then hand searched the electronic medical record for qualifying patients with heights diagnosis of dwarfism. The extracted data included patient demographics and obstetric and anesthetic information. We identified 13 women with dwarfism who had 15 Cesarean deliveries in total. Twelve of the women had disproportionate dwarfism, and ten of the 15 Cesarean deliveries were due to cephalopelvic disproportion. Neuraxial anesthesia was attempted in 93% of deliveries. The dose chosen for initiation of neuraxial anesthesia was lower than the typical doses used in parturients of normal stature. Neuraxial anesthetic complications included difficult neuraxial placement (64%), high spinal (7%), inadequate surgical level (13%), and unrecognized intrathecal catheter (7%). The data collected suggest that females with a diagnosis of dwarfism may have difficult neuraxial placement and potentially require lower dosages of local anesthetic for both spinal and epidural anesthesia to achieve adequate surgical blockade.

  10. Primary hypothyroidism masquerading pituitary macroadenoma

    Directory of Open Access Journals (Sweden)

    Agrawal Amit

    2014-03-01

    Full Text Available Diffuse and reactive pituitary gland enlargement secondary to primary hypothyroidism is an uncommon occurrence and that can masquerade many pituitary disorders. In present article, we report a case of 19 year female severe hypothyroidism presenting with diffuse enlargement of pituitary gland and hyperprolactinemia and review the clinical importance of this entity. Knowledge of this entity is very important to avoid unnecessary surgery and irreversible complications in this sub-group of patients.

  11. Primary hypothyroidism masquerading pituitary macroadenoma

    OpenAIRE

    Agrawal Amit; Reddy Amareesh P.; Malleswara Rao G.; Reddy V. Umamaheswara

    2014-01-01

    Diffuse and reactive pituitary gland enlargement secondary to primary hypothyroidism is an uncommon occurrence and that can masquerade many pituitary disorders. In present article, we report a case of 19 year female severe hypothyroidism presenting with diffuse enlargement of pituitary gland and hyperprolactinemia and review the clinical importance of this entity. Knowledge of this entity is very important to avoid unnecessary surgery and irreversible complications in this sub-group of patients.

  12. Growth Hormone Receptor Mutations Related to Individual Dwarfism

    Science.gov (United States)

    Li, Charles; Zhang, Xiquan

    2018-01-01

    Growth hormone (GH) promotes body growth by binding with two GH receptors (GHRs) at the cell surface. GHRs interact with Janus kinase, signal transducers, and transcription activators to stimulate metabolic effects and insulin-like growth factor (IGF) synthesis. However, process dysfunctions in the GH–GHR–IGF-1 axis cause animal dwarfism. If, during the GH process, GHR is not successfully recognized and/or bound, or GHR fails to transmit the GH signal to IGF-1, the GH dysfunction occurs. The goal of this review was to focus on the GHR mutations that lead to failures in the GH–GHR–IGF-1 signal transaction process in the dwarf phenotype. Until now, more than 90 GHR mutations relevant to human short stature (Laron syndrome and idiopathic short stature), including deletions, missense, nonsense, frameshift, and splice site mutations, and four GHR defects associated with chicken dwarfism, have been described. Among the 93 identified mutations of human GHR, 68 occur extracellularly, 13 occur in GHR introns, 10 occur intracellularly, and two occur in the transmembrane. These mutations interfere with the interaction between GH and GHRs, GHR dimerization, downstream signaling, and the expression of GHR. These mutations cause aberrant functioning in the GH-GHR-IGF-1 axis, resulting in defects in the number and diameter of muscle fibers as well as bone development. PMID:29748515

  13. Phenotypic diagnosis of dwarfism in six Friesian horses.

    Science.gov (United States)

    Back, W; van der Lugt, J J; Nikkels, P G J; van den Belt, A J M; van der Kolk, J H; Stout, T A E

    2008-05-01

    An extreme form of abnormal development, dwarfism, is common in man and some animals, but has not been officially reported in horses. Within the Friesian horse breed, congenital dwarfism has been recognised for many years, but no detailed report exists on its phenotype. The most salient feature of the dwarf syndrome is the physeal growth retardation in both limbs and ribs. Affected animals have approximately 25% shorter fore- and hindlimbs and approximately 50% reduced bodyweight. Postnatal growth is still possible in these animals, albeit at a slower rate: the head and back grow faster than the limbs and ribs leading to the characteristic disproportional growth disturbance. Thus, adult dwarfs exhibit a normal, but a relatively larger head conformation, a broader chest with narrowing at the costochondral junction, a disproportionally long back, abnormally short limbs, hyperextension of the fetlocks and narrow long-toed hooves. Furthermore, a dysplastic metaphysis of the distal metacarpus and metatarsus is radiographically evident. Microscopic analysis of the growth plates at the costochondral junction shows an irregular transition from cartilage to bone, and thickening and disturbed formation of chondrocyte columns, which is similar to findings in osteochondrodysplasia.

  14. Growth Hormone Receptor Mutations Related to Individual Dwarfism

    Directory of Open Access Journals (Sweden)

    Shudai Lin

    2018-05-01

    Full Text Available Growth hormone (GH promotes body growth by binding with two GH receptors (GHRs at the cell surface. GHRs interact with Janus kinase, signal transducers, and transcription activators to stimulate metabolic effects and insulin‐like growth factor (IGF synthesis. However, process dysfunctions in the GH–GHR–IGF-1 axis cause animal dwarfism. If, during the GH process, GHR is not successfully recognized and/or bound, or GHR fails to transmit the GH signal to IGF-1, the GH dysfunction occurs. The goal of this review was to focus on the GHR mutations that lead to failures in the GH–GHR–IGF-1 signal transaction process in the dwarf phenotype. Until now, more than 90 GHR mutations relevant to human short stature (Laron syndrome and idiopathic short stature, including deletions, missense, nonsense, frameshift, and splice site mutations, and four GHR defects associated with chicken dwarfism, have been described. Among the 93 identified mutations of human GHR, 68 occur extracellularly, 13 occur in GHR introns, 10 occur intracellularly, and two occur in the transmembrane. These mutations interfere with the interaction between GH and GHRs, GHR dimerization, downstream signaling, and the expression of GHR. These mutations cause aberrant functioning in the GH-GHR-IGF-1 axis, resulting in defects in the number and diameter of muscle fibers as well as bone development.

  15. MR findings in pituitary haemosiderosis

    International Nuclear Information System (INIS)

    Ambrosetto, P.; Zucchini, S.; Cicognani, A.; Cacciari, E.

    1998-01-01

    A girl with Diamond-Blackfan syndrome and hypopituitarism was suspected of having pituitary haemosiderosis because of the clinical picture and the long history of blood transfusions. On T1-weighted MR images the pituitary exhibited a markedly hypointense anterior lobe (mimicking the empty sella), suggesting iron deposition, while on T2W MRI the low signal of the pituitary was surrounded by the high signal of the CSF. MR may be considered the examination of choice for detecting iron overload in the pituitary. (orig.)

  16. Pituitary Tumors—Health Professional Version

    Science.gov (United States)

    Pituitary tumors represent from 10% to 25% of all intracranial neoplasms. Pituitary tumors can be classified into three groups: benign adenoma, invasive adenoma, and carcinoma. Find evidence-based information on pituitary tumors treatment.

  17. Pituitary gland tumors; Hypophysentumoren

    Energy Technology Data Exchange (ETDEWEB)

    Jesser, J.; Schlamp, K.; Bendszus, M. [Radiologische Klinik, Universitaetsklinikum Heidelberg, Abteilung fuer Neuroradiologie, Heidelberg (Germany)

    2014-10-15

    This article gives an overview of the most common tumors of the pituitary gland and the differential diagnostics with special emphasis on radiological diagnostic criteria. A selective search of the literature in PubMed was carried out. Pituitary adenomas constitute 10-15 % of all intracranial tumors and are the most common tumors of the sellar region. Tumors smaller than 1 cm in diameter are called microadenomas while those larger than 1 cm in diameter are called macroadenomas. Approximately 65 % of pituitary gland adenomas secrete hormones whereby approximately 50 % secrete prolactin, 10 % secrete growth hormone (somatotropin) and 6 % secrete corticotropin. Other tumors located in the sella turcica can also cause endocrinological symptoms, such as an oversecretion of pituitary hormone or pituitary insufficiency by impinging on the pituitary gland or its stalk. When tumors spread into the space cranial to the sella turcica, they can impinge on the optic chiasm and cause visual disorders. A common differential diagnosis of a sellar tumor is a craniopharyngeoma. In children up to 10 % of all intracranial tumors are craniopharyngeomas. Other differential diagnoses for sellar tumors are metastases, meningiomas, epidermoids and in rare cases astrocytomas, germinomas or Rathke cleft cysts As these tumors are located in an anatomically complex region of the skull base and are often very small, a highly focused imaging protocol is required. The currently favored modality is magnetic resonance imaging (MRI) with the administration of a contrast agent. The sellar region should be mapped in thin slices. In cases of suspected microadenoma the imaging protocol should also contain a sequence with dynamic contrast administration in order to assess the specific enhancement characteristics of the tumor and the pituitary gland. (orig.) [German] Diese Arbeit ist eine Uebersicht ueber die haeufigsten Hypophysentumoren und deren Differenzialdiagnosen mit Augenmerk auf die

  18. Pituitary apoplexy masquerading as meningitis

    African Journals Online (AJOL)

    meningeal irritation is not considered a classic feature of pituitary apoplexy.2,3 The pathophysiology behind this symptom complex involves leakage of blood into the subarachnoid space, which, in conjunction with the necrotic tissue in the pituitary itself, induces a cytokine response, resulting in meningeal irritation and the.

  19. Pituitary gland imaging and outcome.

    Science.gov (United States)

    Di Iorgi, Natascia; Morana, Giovanni; Gallizia, Anna Lisa; Maghnie, Mohamad

    2012-01-01

    Magnetic resonance imaging (MRI) allows a detailed and precise anatomical study of the pituitary gland by differentiating between the anterior and posterior pituitary lobes. The identification of posterior pituitary hyperintensity, now considered a marker of neurohypophyseal functional integrity, has been the most striking advance for the diagnosis and understanding of anterior and posterior pituitary diseases. The advent of MRI has in fact led to a significant improvement in the understanding of the pathogenesis of disorders that affect the hypothalamo-pituitary area. Today, there is convincing evidence to support the hypothesis that marked MRI differences in pituitary morphology indicate a diverse range of disorders which affect the organogenesis and function of the anterior pituitary gland with different prognoses. Furthermore, the association of extrapituitary malformations accurately defined by MRI has supported a better definition of several conditions linked to pituitary hormone deficiencies and midline defects. MRI is a very informative procedure that should be used to support a diagnosis of hypopituitarism. It is useful in clinical management, because it helps endocrinologists determine which patients to target for further molecular studies and genetic counselling, which ones to screen for additional hormone deficits, and which ones may need growth hormone replacement into adult life. Copyright © 2012 S. Karger AG, Basel.

  20. Pituitary diseases and sleep disorders

    NARCIS (Netherlands)

    Romijn, Johannes A.

    2016-01-01

    Patients with pituitary diseases have decreased quality of life. Sleep disorders are prevalent among patients with pituitary diseases and contribute to decreased quality of life. Patients previously treated for compression of the optic chiasm by surgery, and in some cases postoperative radiotherapy,

  1. The ectopic posterior pituitary gland

    African Journals Online (AJOL)

    2013-11-04

    Nov 4, 2013 ... crinology with short stature, delayed bone age and biochemical features suggestive of hypo pituitarism. Magnetic resonance imaging of the brain demonstrated a flattened anterior pituitary gland within the sella, associated with absence of the infundibular stalk and an ectopic posterior pituitary gland (Fig.

  2. Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.

    Science.gov (United States)

    Abdel-Salam, Ghada M H; Abdel-Hamid, Mohamed S; Issa, Mahmoud; Magdy, Ahmed; El-Kotoury, Ahmed; Amr, Khalda

    2012-06-01

    Mutations in the RNU4ATAC gene cause microcephalic osteodysplastic primordial dwarfism type I. It encodes U4atac, a small nuclear RNA that is a component of the minor spliceosome. Six distinct mutations in 30 patients diagnosed as microcephalic osteodysplastic primordial dwarfism type I have been described. We report on three additional patients from two unrelated families presenting with a milder phenotype of microcephalic osteodysplastic primordial dwarfism type I and metopic synostosis. Patient 1 had two novel heterozygous mutations in the 3' prime stem-loop, g.66G > C and g.124G > A while Patients 2 and 3 had a homozygous mutation g.55G > A in the 5' prime stem-loop. Although they manifested the known spectrum of clinical features of microcephalic osteodysplastic primordial dwarfism type I, they lacked evidence of severe developmental delay and neurological symptoms. These findings expand the mutational and phenotypic spectrum of this syndrome. Copyright © 2012 Wiley Periodicals, Inc.

  3. "Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II.

    Science.gov (United States)

    Bang, Genie M; Kirmani, Salman; Patton, Alice; Pulido, Jose S; Brodsky, Michael C

    2013-02-01

    Primordial dwarfism refers to severely impaired growth beginning early in fetal life. There are many genetic causes of primordial dwarfism, including disorders classified as microcephalic osteodysplastic primordial dwarfism. Microcephalic osteodysplastic primordial dwarfism type II is an autosomal-recessive disease characterized by small stature, bone and dental anomalies, and characteristic facies. Affected patients have a high risk of stroke secondary to progressive cerebral vascular anomalies, which often are classified as moyamoya disease. We present the case of a boy with features suggestive of MOPD II with unilateral moyamoya cerebrovascular changes and correlative moyamoya collaterals involving the iris of the ipsilateral eye. Copyright © 2013 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

  4. Application of thoracic endovascular aortic repair (TEVAR) in treating dwarfism with Stanford B aortic dissection

    Science.gov (United States)

    Qiu, Jian; Cai, Wenwu; Shu, Chang; Li, Ming; Xiong, Qinggen; Li, Quanming; Li, Xin

    2018-01-01

    Abstract Rationale: To apply thoracic endovascular aortic repair (TEVAR) to treat dwarfism complicated with Stanford B aortic dissection. Patient concerns: In this report, we presented a 63-year-old male patient of dwarfism complicated with Stanford B aortic dissection successfully treated with TEVAR. Diagnoses: He was diagnosed with dwarfism complicated with Stanford B aortic dissection. Interventions: After conservative treatment, the male patient underwent TEVAR at 1 week after hospitalization. After operation, he presented with numbness and weakness of his bilateral lower extremities, and these symptoms were significantly mitigated after effective treatment. At 1- and 3-week after TEVAR, the aorta status was maintained stable and restored. Outcomes: The patient obtained favorable clinical prognosis and was smoothly discharged. During subsequent follow-up, he remained physically stable. Lessons: TEVAR is probably an option for treating dwarfism complicated with Stanford B aortic dissection, which remains to be validated by subsequent studies with larger sample size. PMID:29703033

  5. Pregnancy in a woman with proportionate (primordial) dwarfism: a case report and literature review.

    Science.gov (United States)

    Vance, C E; Desmond, M; Robinson, A; Johns, J; Zacharin, M; Savarirayan, R; König, K; Warrillow, S; Walker, S P

    2012-09-01

    Primordial dwarfism is a rare form of severe proportionate dwarfism which poses significant challenges in pregnancy. A 27-year-old with primordial dwarfism (height 97 cm, weight 22 kg) and coexisting morbidities of familial hypercholesterolaemia and hypertension presented to our unit. Early pregnancy was complicated by difficult blood pressure control, sinus tachycardia, biochemical hyperthyroidism and insulin-requiring gestational diabetes. Delivery was indicated at 24 weeks with uncontrollable hypertension, progressive renal impairment and intrauterine growth restriction. A caesarean section was performed under general anaesthesia, resulting in the delivery of a 486 g male infant. This case highlights the difficulties of managing pregnancy in a woman with primordial dwarfism. Her limited capacity to respond to the physiological demands of pregnancy created a life-threatening situation, culminating in profound preterm birth.

  6. Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation. A distinct inherited syndrome.

    Science.gov (United States)

    Cantú, J M; Sánchez-Corona, J; García-Cruz, D; Fragoso, R

    1980-01-01

    Two 46,XY brothers were found to have a previously undescribed syndrome characterized by severe mental deficiency, proportionate dwarfism, and delayed sexual development. A recessive mode of inheritance, either autosomal or X-linked, is assumed.

  7. Imaging of pediatric pituitary endocrinopathies

    Science.gov (United States)

    Chaudhary, Vikas; Bano, Shahina

    2012-01-01

    Accurate investigation of the hypothalamic-pituitary area is required in pediatric patients for diagnosis of endocrine-related disorders. These disorders include hypopituitarism, growth failure, diencephalic syndrome, delayed puberty, precocious puberty, diabetes insipidus, syndrome of inappropriate antidiuretic hormone (SIADH) secretion, and hyperpituitarism. Magnetic resonance imaging (MRI) is the modality of choice to visualize hypothalamic-pituitary axis and associated endocrinopathies. Neuroimaging can be normal or disclose abnormalities related to pituitary-hypothalamic axis like (i) congenital and developmental malformations; (ii) tumors; (iii) cystic lesions; and (iv) infectious and inflammatory conditions. Classical midline anomalies like septo-optic dysplasias or corpus callosum agenesis are commonly associated with pituitary endocrinopathies and also need careful evaluation. In this radiological review, we will discuss neuroendocrine disorders related to hypothalamic pituitary-axis. PMID:23087850

  8. MAJEWSKI OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II: CLINICAL FINDINGS AND DENTAL MANAGEMENT OF A CHILD PATIENT

    OpenAIRE

    Terlemez, Arslan; Altunsoy, Mustafa; Çelebi, Hakkı

    2015-01-01

    Majewski osteodysplastic primordial dwarfism type II (MOPD II) is an unusual autosomal recessive inherited form of primordial dwarfism, which is characterized by a small head diameter at birth, but which also progresses to severe microcephaly, progressive bony dysplasia, and characteristic facies and personality. This report presents a case of a five-year-old girl with MOPD II syndrome. The patient was referred to our clinic with the complaint of severe tooth pain at the left mandibular prima...

  9. A unique virulence factor for proliferation and dwarfism in plants identified from a phytopathogenic bacterium

    OpenAIRE

    Hoshi, Ayaka; Oshima, Kenro; Kakizawa, Shigeyuki; Ishii, Yoshiko; Ozeki, Johji; Hashimoto, Masayoshi; Komatsu, Ken; Kagiwada, Satoshi; Yamaji, Yasuyuki; Namba, Shigetou

    2009-01-01

    One of the most important themes in agricultural science is the identification of virulence factors involved in plant disease. Here, we show that a single virulence factor, tengu-su inducer (TENGU), induces witches' broom and dwarfism and is a small secreted protein of the plant-pathogenic bacterium, phytoplasma. When tengu was expressed in Nicotiana benthamiana plants, these plants showed symptoms of witches' broom and dwarfism, which are typical of phytoplasma infection. Transgenic Arabidop...

  10. Pituitary spindle cell oncocytoma

    Directory of Open Access Journals (Sweden)

    Soledad Sosa

    2018-01-01

    Full Text Available Spindle cell oncocytoma is an infrequent benign non-endocrine sellar neoplasm. Due to its similar morphology to pituitary adenomas, consideration of this differential diagnosis would conduce to a more careful surgical approach in order to avoid intraoperative bleeding and aiming to a complete resection, on which depends long-term outcomes. We present the case of a 60-year-old male who complained about visual abnormalities, with computerized visual field confirmation. On biochemistry, a panhypopituitarism was detected. The brain magnetic resonance images showed a sellar mass. A non-functioning pituitary macroadenoma was presumptively diagnosed and due to the visual impairment, surgical transesphenoidal treatment was indicated. The histological diagnosis was spindle cell oncocytoma. Five months after surgery, the control image demonstrated a lesion that was considered as remnant tumor, hence radiosurgery was performed. During the follow-up, the tumor reduced its size and four years after initial treatment, the sellar resonance imaging showed disappearance of the residual tumor. Communication of new cases of this rare entity will enlarge the existing evidence and will help to determinate the most effective treatment and prognosis.

  11. Shift of the pituitary stalk in intrasellar pituitary adenomas

    International Nuclear Information System (INIS)

    Ito, Jusuke; Tokiguchi, Susumu; Nakamori, Akitoshi; Watanabe, Akira; Yokoyama, Motoharu.

    1982-01-01

    Fifty-one patients from a group of 344 patients undergoing the evaluation of intrasellar or parasellar tumors were diagnosed on CT as having an intrasellar pituitary adenoma. Axial transverse sections were performed at -10 0 to Reid's basal line, using 1.5-mm-thick slices and sagittal and coronal reformation. Of these 51 patients, 17 showed a shift of the pituitary stalk. The area where a tumor was thought to be located within the sella turcica on preoperative CT became defective on CT after transsphenoidal surgery in all cases. Histological verification was obtained in all cases. Also, the shift of the pituitary stalk was normalized or markedly improved after surgery in all cases. In functioning tumors, all cases except two showed an endocrinologically normal state or a marked improvement after transsphenoidal surgery. On the basis of the above-mentioned facts, it was concluded that the shift of the pituitary stalk in intrasellar pituitary adenomas indicated the evidence of a mass and its location in the sella turcica. However, a shift of the pituitary stalk was also observed under other conditions, such as empty sella and tuberculum sellae meningioma, and so it is not a pathognomonic finding in intrasellar pituitary adenomas. (author)

  12. Cultural stereotypes and personal beliefs about individuals with dwarfism.

    Science.gov (United States)

    Heider, Jeremy D; Scherer, Cory R; Edlund, John E

    2013-01-01

    Three studies assessed the content of cultural stereotypes and personal beliefs regarding individuals with dwarfism among "average height" (i.e., non-dwarf) individuals. In Studies 1 and 2, undergraduates from three separate institutions selected adjectives to reflect traits constituting both the cultural stereotype about dwarves and their own personal beliefs about dwarves (cf. Devine & Elliot, 1995). The most commonly endorsed traits for the cultural stereotype tended to be negative (e.g., weird, incapable, childlike); the most commonly endorsed traits for personal beliefs were largely positive (e.g., capable, intelligent, kind). In Study 3, undergraduates from two separate institutions used an open-ended method to indicate their personal beliefs about dwarves (cf. Eagly, Mladinic, & Otto, 1994). Responses contained a mixture of positive and negative characteristics, suggesting a greater willingness to admit to negative personal beliefs using the open-ended method.

  13. Primordial dwarfism: overview of clinical and genetic aspects.

    Science.gov (United States)

    Khetarpal, Preeti; Das, Satrupa; Panigrahi, Inusha; Munshi, Anjana

    2016-02-01

    Primordial dwarfism is a group of genetic disorders which include Seckel Syndrome, Silver-Russell Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism types I/III, II and Meier-Gorlin Syndrome. This genetic disorder group is characterized by intra-uterine growth retardation and post-natal growth abnormalities which occur as a result of disorganized molecular and genomic changes in embryonic stage and, thus, it represents a unique area to study growth and developmental abnormalities. Lot of research has been carried out on different aspects; however, a consolidated review that discusses an overall spectrum of this disorder is not accessible. Recent research in this area points toward important molecular and cellular mechanisms in human body that regulate the complexity of growth process. Studies have emerged that have clearly associated with a number of abnormal chromosomal, genetic and epigenetic alterations that can predispose an embryo to develop PD-associated developmental defects. Finding and associating such fundamental changes to its subtypes will help in re-examination of alleged functions at both cellular and developmental levels and thus reveal the intrinsic mechanism that leads to a balanced growth. Although such findings have unraveled a subtle understanding of growth process, we further require active research in terms of identification of reliable biomarkers for different subtypes as an immediate requirement for clinical utilization. It is hoped that further study will advance the understanding of basic mechanisms regulating growth relevant to human health. Therefore, this review has been written with an aim to present an overview of chromosomal, molecular and epigenetic modifications reported to be associated with different subtypes of this heterogenous disorder. Further, latest findings with respect to clinical and molecular genetics research have been summarized to aid the medical fraternity in their clinical utility, for diagnosing disorders

  14. Successful treatment of dwarfism secondary to long-term steroid therapy in steroid-dependent nephrotic syndrome.

    Science.gov (United States)

    Sun, Linlin; Chen, Dongping; Zhao, Xuezhi; Xu, Chenggang; Mei, Changlin

    2010-01-01

    Prolonged steroid therapy is generally used for steroid-dependent nephrotic syndrome in pediatric patients. However, dwarfism secondary to a long-term regimen and its successful reverse is rarely reported. The underlying mechanism of dwarfism is still poorly understood, as both long-term steroid use and nephrotic syndrome may interact or independently interfere with the process of growth. Here, we present a 17-year-old patient with dwarfism and steroid-dependent nephrotic syndrome and the successful treatment by recombinant human growth factor and cyclosporine A with withdrawal of steroid. We also briefly review the current understanding and the management of dwarfism in pediatric patients with nephrotic syndrome.

  15. Primary pituitary abscess: case report

    Directory of Open Access Journals (Sweden)

    Hanel Ricardo Alexandre

    2002-01-01

    Full Text Available Pituitary abscesses are potentially life-threatening lesions if not appropriately diagnosed and treated. The authors have operated on more than five hundred cases of pituitary tumors and only one represented a case of pituitary abscess. A 35-year-old woman was investigated for chronic frontal headache. CT scan showed a cystic sellar lesion with ring enhancement after contrast injection leading to an initial diagnosis of pituitary adenoma. She underwent a sublabial transsphenoidal approach to the pituitary gland. After dural opening, purulent material was obtained and no tumor or other associated lesion was detected. There was no evidence of current or previous septicemic illness, meningitis, cavernous sinus thrombosis or sinus infection. Cultures were negative. She was put on antibiotics and discharged after 4 weeks. Nowadays, 10 years after treatment, she is doing well, with no anterior pituitary hormone deficit. MRI shows a partially empty sella without residual lesion and the pituitary stalck is in the midline. The early diagnosis and adequate treatment of this life-threatening lesion may result in excellent prognosis.

  16. MRI of cystic pituitary tumors

    Energy Technology Data Exchange (ETDEWEB)

    Tokunaga, Hitoshi; Hoshi, Seiichiro; Sunada, Souichi; Sunami, Kenro [Kawatetsu Chiba Hospital (Japan); Saeki, Naokatsu; Yamaura, Akira

    1998-11-01

    We retrospectively reviewed MRI findings of 17 patients with 3 histologically proven cystic pituitary tumors. They consisted of 10 cystic pituitary adenomas, 4 craniopharyngiomas and 3 Rathke`s cleft cysts. We analyzed the following MRI parameters such as cyst wall appearance, enhancement pattern of cyst wall, location of residual pituitary gland and location of tumor. They were clinically significant parameters for histological differentiation. Even though combinations of such MRI parameters helped for more accurate preoperative diagnosis, the differentiation between craniopharyngioma and Rathke`s cleft cyst was difficult in some cases. (author)

  17. MRI of cystic pituitary tumors

    International Nuclear Information System (INIS)

    Tokunaga, Hitoshi; Hoshi, Seiichiro; Sunada, Souichi; Sunami, Kenro; Saeki, Naokatsu; Yamaura, Akira

    1998-01-01

    We retrospectively reviewed MRI findings of 17 patients with 3 histologically proven cystic pituitary tumors. They consisted of 10 cystic pituitary adenomas, 4 craniopharyngiomas and 3 Rathke's cleft cysts. We analyzed the following MRI parameters such as cyst wall appearance, enhancement pattern of cyst wall, location of residual pituitary gland and location of tumor. They were clinically significant parameters for histological differentiation. Even though combinations of such MRI parameters helped for more accurate preoperative diagnosis, the differentiation between craniopharyngioma and Rathke's cleft cyst was difficult in some cases. (author)

  18. Dwarfism in mice lacking collagen-binding integrins alpha 2 beta 1 and alpha 11 beta 1 is caused by severely diminished IGF-1 levels

    OpenAIRE

    Blumbach, Katrin; Niehoff, Anja; Belgardt, Bengt F.; Ehlen, Harald W.A.; Schmitz, Markus; Hallinger, Ralf; Schulz, Jan-Niklas; Brüning, Jens C.; Krieg, Thomas; Schubert, Markus; Gullberg, Donald; Eckes, Beate

    2012-01-01

    Mice with a combined deficiency in the α2β1 and α11β1 integrins lack the major receptors for collagen I. These mutants are born with inconspicuous differences in size but develop dwarfism within the first 4 weeks of life. Dwarfism correlates with shorter, less mineralized and functionally weaker bones that do not result from growth plate abnormalities or osteoblast dysfunction. Besides skeletal dwarfism, internal organs are correspondingly smaller, indicating proportional dwarfism and suggest...

  19. Pituitary autoantibodies in endocrine disorders

    OpenAIRE

    Bensing, Sophie

    2005-01-01

    Autoimmune endocrine disorders are characterised by the development of autoantibodies to specific autoantigens in the target organs. Lymphocytic hypophysitis (LyH) is a disease characterised by inflammation of the pituitary gland, often resulting in hypopituitarism. The aetiology of LyH is considered to be autoimmune. However, only a few pituitary autoantigens have so far been identified. Reliable autoantibody markers are requested in the diagnostic procedure of LyH to avoid...

  20. Radiosurgery of pituitary adenomas

    International Nuclear Information System (INIS)

    Kida, Yoshihisa

    2008-01-01

    The efficacy and role of gamma knife (GK) in the treatment of various pituitary adenomas are described on author's experience and discussed with literature. GK subjects are 328 patients (M 126/F 202, av. age of 47.8 y) in author's hospital, and satisfactory follow-up (32-44 mo) for evaluation has been possible in 253 cases, who had tumors non-functional (129 cases), producing ACTH (23), HGH (70) and PRL (31). Stereotactic GK radiosurgery is done with navigation by Gamma Plan based on enhanced MRI images at various doses, and evaluation in the follow-up period is performed by hormonal levels and MRI which give efficacy of complete response (CR), partial response (PR), MR and standard deviation (SD)/ progressive disease (PD) on the tumor size. The overall tumor control rate is found to be 95-100%. Effectiveness (CR and PR) is found as high as 77.4% in PRL-producing tumor (marginal dose 14-32 Gy), 65% in non-functioning (15-25 Gy), 61% in ACTH (19-30 Gy) and 60% in GH (19-31 Gy), of which tendency is similar to that in literature. Even in ACTH-producing tumor, low ACTH and cortisol levels persisted with tendency of improved obese and hypertensive symptoms. GK radiosurgery has limitations in the tissue size and distance between the tumor and optic nerve/chiasm, but for the enough small tumor, it gives satisfactorily long term efficacy. (R.T.)

  1. Investigation of the growth patterns of non-functioning pituitary ...

    African Journals Online (AJOL)

    2016-07-28

    Jul 28, 2016 ... Pituitary adenomas are almost always benign (>99.9%), arise from the anterior pituitary and ... Non-functioning pituitary macroadenomas (NFMA) are the most ... pituitary gland, most likely due to alterations in perfusion.

  2. Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.

    Science.gov (United States)

    Nair, Pratibha; Hamzeh, Abdul Rezzak; Mohamed, Madiha; Saif, Fatima; Tawfiq, Nafisa; El Halik, Majdi; Al-Ali, Mahmoud Taleb; Bastaki, Fatma

    2016-08-01

    Microcephaly is a rare neurological condition, both in isolation and when it occurs as part of a syndrome. One of the syndromic forms of microcephaly is microcephaly, seizures and developmental delay (MCSZ) (OMIM #613402), a rare autosomal recessive neurodevelopmental disorder with a range of phenotypic severity, and known to be caused by mutations in the polynucleotide kinase 3' phosphatase (PNKP) gene. The PNK protein is a key enzyme involved in the repair of single and double stranded DNA breaks, a process which is particularly important in the nervous system. We describe an Emirati patient who presented with microcephaly, short stature, uncontrollable tonic-clonic seizures, facial dysmorphism, and developmental delay, while at the same time showing evidence of brain atrophy and agenesis of the corpus callosum. We used whole exome sequencing to identify homozygosity for a missense c.1385G > C (p.Arg462Pro) mutation in PNKP in the patient and heterozygosity for this mutation in her consanguineous parents. The Arg 462 residue forms a part of the lid subdomain helix of the P-loop Kinase domain. Although our patient's phenotype resembled that of MCSZ, the short stature and evidence of brain atrophy distinguished it from other classic cases of the condition. The report raises the question of whether to consider this case as an atypical variant of MCSZ or as a novel form of microcephalic primordial dwarfism. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  3. Genomic analysis of primordial dwarfism reveals novel disease genes.

    Science.gov (United States)

    Shaheen, Ranad; Faqeih, Eissa; Ansari, Shinu; Abdel-Salam, Ghada; Al-Hassnan, Zuhair N; Al-Shidi, Tarfa; Alomar, Rana; Sogaty, Sameera; Alkuraya, Fowzan S

    2014-02-01

    Primordial dwarfism (PD) is a disease in which severely impaired fetal growth persists throughout postnatal development and results in stunted adult size. The condition is highly heterogeneous clinically, but the use of certain phenotypic aspects such as head circumference and facial appearance has proven helpful in defining clinical subgroups. In this study, we present the results of clinical and genomic characterization of 16 new patients in whom a broad definition of PD was used (e.g., 3M syndrome was included). We report a novel PD syndrome with distinct facies in two unrelated patients, each with a different homozygous truncating mutation in CRIPT. Our analysis also reveals, in addition to mutations in known PD disease genes, the first instance of biallelic truncating BRCA2 mutation causing PD with normal bone marrow analysis. In addition, we have identified a novel locus for Seckel syndrome based on a consanguineous multiplex family and identified a homozygous truncating mutation in DNA2 as the likely cause. An additional novel PD disease candidate gene XRCC4 was identified by autozygome/exome analysis, and the knockout mouse phenotype is highly compatible with PD. Thus, we add a number of novel genes to the growing list of PD-linked genes, including one which we show to be linked to a novel PD syndrome with a distinct facial appearance. PD is extremely heterogeneous genetically and clinically, and genomic tools are often required to reach a molecular diagnosis.

  4. Radiomorphometric examination of the sceleton in differential diagnostics of the endocrine dwarfism in children

    International Nuclear Information System (INIS)

    Preden, N.; Bannert, N.; Mohnike, K.; Keller, E.

    1984-01-01

    To determine the thickness of the cortical bone means to get a criterion for differential diagnostics of endocrine dwarfism in children. The somatotrophic hormone (STH) has besides other factors a deciding influence on the thickness of the compact substance. After the 4th year of life a positive exclusion of a deficiency in STH becomes possible by measurements of the thickness of the cortical substance. By the therapy of the hypothalamic-hypophyseal dwarfism used at present a making up growth in respect to the thickness of the cortical substance was not demonstrable. A deficiency in STH may be suspected in children suffering from a constitutional retardation in growth, but there was no positive delimitation to the group of hypothalamic-hypophyseal dwarfism. Generally all other relevant clinical pictures, also going along with a thinning of the cortical substance, may be discriminated from a deficiency in STH by the -2s limit. (author)

  5. Radiomorphometric examination of the sheleton in differential diagnostics of endocrine dwarfism in children

    Energy Technology Data Exchange (ETDEWEB)

    Preden, N.; Bannert, N.; Mohnike, K.; Keller, E.

    1984-01-01

    To determine the thickness of the cortical bone means to get a criterion for differential diagnostics of endocrine dwarfism in children. The somatotrophic hormone (STH) has besides other factors a deciding influence on the thickness of the compact substance. After the 4th year of life a positive exclusion of a deficiency in STH becomes possible by measurements of the thickness of the cortical substance. In the therapy of hypothalamic-hypophyseal dwarfism used at present a making up growth in respect to the thickness of the cortical substance was not demonstrable. A deficiency in STH may be suspected in children suffering from a constitutional retardation in growth, but there was no positive delimitation to the group of hypothalamic-hypophyseal dwarfism. Generally all other relevant clinical pictures, also going along with a thinning of the cortical substance, may be discriminated from a deficiency in STH by the -2s limit.

  6. Survivorship and complications of total hip arthroplasty in patients with dwarfism.

    Science.gov (United States)

    Modi, Ronuk M; Kheir, Michael M; Tan, Timothy L; Penny, Gregory S; Chen, Chi-Lung; Shao, Hongyi; Chen, Antonia F

    2017-09-19

    Total hip arthroplasty (THA) is a common procedure used to treat bony hip deformities and skeletal dysplasia in dwarfism. These surgeries are often more difficult than conventional THA as they may involve malformed joints and poor bone quality, and may require smaller prostheses. This study aims to investigate whether implant survivorship and revision rates vary among patients with and without dwarfism undergoing THA. A retrospective case-control study was performed for 102 THAs completed between 1997 and 2014 in patients under the height threshold of 147.32 cm. This cohort was matched 1:1.5 with patients of normal height with respect to age, gender, year of surgery, and Charlson comorbidities. All cases had a minimum follow-up of 1 year. A chart review was performed to identify patient and surgical characteristics, including outcomes. Radiographs were assessed for deformity, loosening, and periprosthetic fractures among other factors. The 2-, 5-, and 10-year survivorship of THA in patients with dwarfism was 92.9%, 92.9%, and 80.7%, respectively; and 94.4%, 86.4%, and 86.4% for controls, respectively (p = 0.95). The dwarfism cohort demonstrated an OR of 3.81 and 3.02 for revision for periprosthetic fractures (p = 0.11) and mechanical wear (p = 0.21), respectively. THA in patients with dwarfism achieves comparable results to a non-dwarfism population with regards to implant survivorship; however, there is a trend toward increased periprosthetic fractures and wear-related failures. Surgeons should be aware of this potentially higher risk in this population and take morphological differences into account during surgical planning and technique.

  7. Contemporary indications for transsphenoidal pituitary surgery.

    Science.gov (United States)

    Miller, Brandon A; Ioachimescu, Adriana G; Oyesiku, Nelson M

    2014-12-01

    To analyze current indications for transsphenoidal pituitary surgery. The current literature regarding transsphenoidal surgery for all subtypes of pituitary adenomas and other sellar lesions was examined. Alternate approaches for pituitary surgery were also reviewed. Transsphenoidal surgery continues to be the mainstay of surgical treatment for pituitary tumors, and has good outcomes in experienced hands. Pre- and postoperative management of pituitary tumors remains an important part of the treatment of patients with pituitary tumors. Even as medical and surgical treatment for pituitary tumors evolves, transsphenoidal surgery remains a mainstay of treatment. Outcomes after transshenoidal surgery have improved over time. Neurosurgeons must be aware of the indications, risks and alternatives to transsphenoidal pituitary surgery. Copyright © 2014 Elsevier Inc. All rights reserved.

  8. Microcephalic osteodysplastic primordial dwarfism, with the fascinating history of "Mademoiselle Crachami".

    Science.gov (United States)

    Bozkaya, O Giray

    2013-01-01

    This review critically examines the findings which characterize the dysmorphic, radiologic and behavioral phenotype of Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) and has an historical perspective on it. MOPD is a group of primordial dwarfism syndromes with prenatal onset growth retardation, a typical craniofacial appearance and behavioral phenotype. In 1959, Mann and Russell have described the first case in a detailed report, and named "microcephalic midget of extreme type". In their report; based on historical records and a small painting, they pointed "Mademoiselle Crachami" as the oldest known case.

  9. Chemotherapy dosing in achondroplastic dwarfism: a case report and review of literature.

    Science.gov (United States)

    Elsoueidi, R; Gresham, C; Michael, L; Chaney, D; Mourad, H

    2016-12-01

    CASE DESCRIPTION: A 74-year-old female with achondroplastic dwarfism was diagnosed with ER-, BR- and HER2- breast cancer. No guideline currently exists to direct chemotherapy dosing in this population. She received neoadjuvant chemotherapy based on body surface area utilizing actual height and weight with dose-dense doxorubicin and cyclophosphamide followed by paclitaxel with the use of granulocyte colony-stimulating factor. Satisfactory clinical response and remission were achieved, and treatment proceeded without any significant toxicity or delays. In the absence of guideline recommendations, dosing chemotherapy based on actual height and weight in patients with achondroplastic dwarfism may be safe and appropriate. © 2016 John Wiley & Sons Ltd.

  10. Radioimmunoassay of pituitary LH in fetal rabbit

    International Nuclear Information System (INIS)

    Veyssiere, Georges; Berger, Michel; Jean-Faucher, Christiane; Turckheim, Marc de; Jean, Claude

    1981-01-01

    LH was measured by radioimmunology from the 18th day of gestation to birth in 318 male and female pituitary glands. LH was first detectable in the pituitary of 19 day old fetuses of both sexes. In both sexes pituitary LH levels increased from the 18th to the 31st day of gestation with a marked acceleration from the 24th day. LH pituitary levels were not sex-dependent [fr

  11. Model of pediatric pituitary hormone deficiency separates the endocrine and neural functions of the LHX3 transcription factor in vivo

    Science.gov (United States)

    Colvin, Stephanie C.; Malik, Raleigh E.; Showalter, Aaron D.; Sloop, Kyle W.; Rhodes, Simon J.

    2011-01-01

    The etiology of most pediatric hormone deficiency diseases is poorly understood. Children with combined pituitary hormone deficiency (CPHD) have insufficient levels of multiple anterior pituitary hormones causing short stature, metabolic disease, pubertal failure, and often have associated nervous system symptoms. Mutations in developmental regulatory genes required for the specification of the hormone-secreting cell types of the pituitary gland underlie severe forms of CPHD. To better understand these diseases, we have created a unique mouse model of CPHD with a targeted knockin mutation (Lhx3 W227ter), which is a model for the human LHX3 W224ter disease. The LHX3 gene encodes a LIM-homeodomain transcription factor, which has essential roles in pituitary and nervous system development in mammals. The introduced premature termination codon results in deletion of the carboxyl terminal region of the LHX3 protein, which is critical for pituitary gene activation. Mice that lack all LHX3 function do not survive beyond birth. By contrast, the homozygous Lhx3 W227ter mice survive, but display marked dwarfism, thyroid disease, and female infertility. Importantly, the Lhx3 W227ter mice have no apparent nervous system deficits. The Lhx3 W227ter mouse model provides a unique array of hormone deficits and facilitates experimental approaches that are not feasible with human patients. These experiments demonstrate that the carboxyl terminus of the LHX3 transcription factor is not required for viability. More broadly, this study reveals that the in vivo actions of a transcription factor in different tissues are molecularly separable. PMID:21149718

  12. Imaging of giant pituitary adenomas

    Energy Technology Data Exchange (ETDEWEB)

    Majos, C.; Coll, S.; Aguilera, C.; Pons, L.C. [Bellvitge Univ., Barcelona (Spain). Inst. de Diagnostice per la Imatge; Acebes, J.J. [Department of Neurosurgery, Ciutat Sanitaria i Universitaria de Bellvitge, L`Hospitalet de Llobregat, Barcelona (Spain)

    1998-10-01

    We present five proven giant pituitary adenomas studied by CT and MRI, and review the clinical and imaging findings. Our aim was to examine the radiologic appearances and to search for criteria useful in distinguishing these tumors from other sellar and suprasellar tumours, mainly craniopharyngioma. The main differences from small adenomas were high prevalence of macrocysts, a more invasive behaviour and a clinical picture dominated by mass effect rather than endocrine disturbance. Factors supporting the diagnosis of pituitary adenoma in a giant intra- and suprasellar mass include: infrasellar extension, absence of calcification and presence of low-signal cysts on T1-weighted images. (orig.) (orig.) With 4 figs., 2 tabs., 9 refs.

  13. Trace elements in human pituitary

    International Nuclear Information System (INIS)

    Kanabrocki, E.L.; Greco, J.; Graham, L.A.; Kaplan, E.; Rubnitz, M.E.; Oester, Y.T.; Brar, S.; Gustafson, P.S.; Nelson, D.M.; Molinari, F.; Moore, C.E.; Kanabrocki, J.A.

    1976-01-01

    Neutron activation analysis was used to determine several trace elements in human pituitaries from adult subjects aged 42 to 83 years who had died of ischemic heart disease, carcinoma and cirrhosis of the liver. None of these subjects suffered from mental disease. The concentrations of Fe, Zn, Rb, Se, Br, Cr, Hg, Cs and Co in dried tissue showed no correlation with the diseases, and the results may therefore be representative of the general population. These elements may play a very fundamental role in pituitary function. (U.K.)

  14. Subarachnoid hemorrhage in pituitary tumor

    Directory of Open Access Journals (Sweden)

    Ashis Patnaik

    2013-01-01

    Full Text Available Subarachnoid hemorrhage (SAH is the bleeding into the subarachnoid space containing cerebrospinal fluid. The most common cause of SAH is trauma. Rupture of aneurysms, vascular anomalies, tumor bleeds and hypertension are other important etiologies. SAH in the setting of pituitary tumor can result from various causes. It can be due to intrinsic tumor related pathology, injury to surrounding the vessel during the operative procedure or due to an associated aneurysm. We discuss the pathological mechanisms and review relevant literature related to this interesting phenomenon. Early and accurate diagnosis of the cause of the SAH in pituitary tumors is important, as this influences the management.

  15. Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

    Science.gov (United States)

    Murray, Jennie E; van der Burg, Mirjam; IJspeert, Hanna; Carroll, Paula; Wu, Qian; Ochi, Takashi; Leitch, Andrea; Miller, Edward S; Kysela, Boris; Jawad, Alireza; Bottani, Armand; Brancati, Francesco; Cappa, Marco; Cormier-Daire, Valerie; Deshpande, Charu; Faqeih, Eissa A; Graham, Gail E; Ranza, Emmanuelle; Blundell, Tom L; Jackson, Andrew P; Stewart, Grant S; Bicknell, Louise S

    2015-03-05

    Non-homologous end joining (NHEJ) is a key cellular process ensuring genome integrity. Mutations in several components of the NHEJ pathway have been identified, often associated with severe combined immunodeficiency (SCID), consistent with the requirement for NHEJ during V(D)J recombination to ensure diversity of the adaptive immune system. In contrast, we have recently found that biallelic mutations in LIG4 are a common cause of microcephalic primordial dwarfism (MPD), a phenotype characterized by prenatal-onset extreme global growth failure. Here we provide definitive molecular genetic evidence supported by biochemical, cellular, and immunological data for mutations in XRCC4, encoding the obligate binding partner of LIG4, causing MPD. We report the identification of biallelic mutations in XRCC4 in five families. Biochemical and cellular studies demonstrate that these alterations substantially decrease XRCC4 protein levels leading to reduced cellular ligase IV activity. Consequently, NHEJ-dependent repair of ionizing-radiation-induced DNA double-strand breaks is compromised in XRCC4 cells. Similarly, immunoglobulin junctional diversification is impaired in cells. However, immunoglobulin levels are normal, and individuals lack overt signs of immunodeficiency. Additionally, in contrast to individuals with LIG4 mutations, pancytopenia leading to bone marrow failure has not been observed. Hence, alterations that alter different NHEJ proteins give rise to a phenotypic spectrum, from SCID to extreme growth failure, with deficiencies in certain key components of this repair pathway predominantly exhibiting growth deficits, reflecting differential developmental requirements for NHEJ proteins to support growth and immune maturation. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  16. Hip pathology in Majewski osteodysplastic primordial dwarfism type II.

    Science.gov (United States)

    Karatas, Ali F; Bober, Michael B; Rogers, Kenneth; Duker, Angela L; Ditro, Colleen P; Mackenzie, William G

    2014-09-01

    Majewski osteodysplastic primordial dwarfism type II (MOPDII) is characterized by severe prenatal and postnatal growth failure with microcephaly, characteristic skeletal dysplasia, an increased risk for cerebrovascular disease, and insulin resistance. MOPDII is caused by mutations in the pericentrin (PCNT) gene and is inherited in an autosomal-recessive manner. This study aimed to determine the incidence of hip pathology in patients with molecularly confirmed MOPDII and to describe the functional outcomes of surgical treatment. Thirty-three enrolled patients had a clinical diagnosis of MOPDII. Biallelic PCNT mutations or absent pericentrin protein was confirmed in 25 of these patients. Twelve patients (7 female) had appropriate clinical and radiographic records at this institution and were included in this study. The data collected included age at presentation, age at surgery, sex, body weight and height, weight-bearing status at diagnosis, and the clinical examination. Four patients (31%) had coxa vara: 3 unilateral and 1 bilateral. Three unilateral patients had in situ pinning at a mean age 4 years. The patient with bilateral coxa vara had valgus osteotomy at the age of 5 years. Two children had bilateral hip dysplasia and subluxation with no surgery. One patient had bilateral developmental hip dislocations. The patient was treated by open reduction-spica cast and 2 years after surgery, coxa valga was noted. Another patient was diagnosed at an age of 12 years with bilateral avascular necrosis of the hips. Four patients did not have hip pathology. Hip pathology is common among children with MOPDII; coxa vara is the most frequent diagnosis. Routine clinical and radiographic hip evaluation is important. The capital femoral epiphysis appears to slip down along the shaft, giving the appearance of a proximal femoral epiphysiolysis. A hip diagnosed with slipped capital femoral epiphysis in early life may progress to severe coxa vara. Level IV.

  17. Pituitary gigantism: Causes and clinical characteristics.

    Science.gov (United States)

    Rostomyan, Liliya; Daly, Adrian F; Beckers, Albert

    2015-12-01

    Acromegaly and pituitary gigantism are very rare conditions resulting from excessive secretion of growth hormone (GH), usually by a pituitary adenoma. Pituitary gigantism occurs when GH excess overlaps with the period of rapid linear growth during childhood and adolescence. Until recently, its etiology and clinical characteristics have been poorly understood. Genetic and genomic causes have been identified in recent years that explain about half of cases of pituitary gigantism. We describe these recent discoveries and focus on some important settings in which gigantism can occur, including familial isolated pituitary adenomas (FIPA) and the newly described X-linked acrogigantism (X-LAG) syndrome. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  18. MRI of congenital pituitary insufficiency

    International Nuclear Information System (INIS)

    Almeida Magalhaes, Alvaro C. de; Uehara, Karla C.; Iezzi, Denise

    1995-01-01

    We compare 1,5 T magnetic resonance (MR) image findings in 193 patients with congenital pituitary congenital insufficiency. One hundred and thirty nine of the MR studies were obtained in patients who had isolated growth hormone deficiency. Other fifth - four patients had multiple pituitary hormone deficiency. On MR images, normal anterior and posterior lobes of the pituitary glands can be clearly differentiated because the posterior lobe has a characteristic high intensity on TI-weighted images. In fifty-four patients, the high- intensity of the posterior lobe was not seen, but a similar high signal intensity was observed at the proximal stump in fifty-one patients. this high- intensity area is the newly formed ectopic posterior lobe, which also secrets anti-diuretic hormone just as the posterior lobe would. MR imaging can demonstrate the transection of the pituitary stalk and the formation of the ectopic lobe, revealing to be a useful diagnostic tool in the definition of the type of alteration in growth defects of endocrine origin. (author)

  19. Computed tomography in pituitary abscess

    Energy Technology Data Exchange (ETDEWEB)

    Appel, W; Scharphuis, T; Distelmaier, P

    1986-06-01

    This is a report on a rare case of a recurring abscess in the pituitary gland. Diagnosis was extremely difficult to establish preoperatively. This is demonstrated via various radiological methods. Anamnesis and clinical disease pattern are important assisting factors in diagnosis.

  20. Dwarfism and insulin resistance in male offspring caused by α1-adrenergic antagonism during pregnancy

    Directory of Open Access Journals (Sweden)

    Rebecca Oelkrug

    2017-10-01

    Conclusions: Our results demonstrate that maternal α1-adrenergic blockade can constitute an epigenetic cause for dwarfism and insulin resistance. The findings are of immediate clinical relevance as combined α/β-adrenergic blockers are first-line treatment of maternal hypertension.

  1. Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

    NARCIS (Netherlands)

    de Munnik, Sonja A.; Otten, Barto J.; Schoots, Jeroen; Bicknell, Louise S.; Aftimos, Salim; Al-Aama, Jumana Y.; van Bever, Yolande; Bober, Michael B.; Borm, George F.; Clayton-Smith, Jill; Deal, Cheri L.; Edrees, Alaa Y.; Feingold, Murray; Fryer, Alan; van Hagen, Johanna M.; Hennekam, Raoul C.; Jansweijer, Maaike C. E.; Johnson, Diana; Kant, Sarina G.; Opitz, John M.; Ramadevi, A. Radha; Reardon, Willie; Ross, Alison; Sarda, Pierre; Schrander-Stumpel, Constance T. R. M.; Sluiter, A. Erik; Temple, I. Karen; Terhal, Paulien A.; Toutain, Annick; Wise, Carol A.; Wright, Michael; Skidmore, David L.; Samuels, Mark E.; Hoefsloot, Lies H.; Knoers, Nine V. A. M.; Brunner, Han G.; Jackson, Andrew P.; Bongers, Ernie M. H. F.

    2012-01-01

    MeierGorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia. Recently, mutations in the ORC1, ORC4, ORC6, CDT1, and CDC6 genes, encoding components of the pre-replication complex, have been identified. This complex

  2. Deletion in the EVC2 Gene Causes Chondrodysplastic Dwarfism in Tyrolean Grey Cattle

    Science.gov (United States)

    Murgiano, Leonardo; Jagannathan, Vidhya; Benazzi, Cinzia; Bolcato, Marilena; Brunetti, Barbara; Muscatello, Luisa Vera; Dittmer, Keren; Piffer, Christian; Gentile, Arcangelo; Drögemüller, Cord

    2014-01-01

    During the summer of 2013 seven Italian Tyrolean Grey calves were born with abnormally short limbs. Detailed clinical and pathological examination revealed similarities to chondrodysplastic dwarfism. Pedigree analysis showed a common founder, assuming autosomal monogenic recessive transmission of the defective allele. A positional cloning approach combining genome wide association and homozygosity mapping identified a single 1.6 Mb genomic region on BTA 6 that was associated with the disease. Whole genome re-sequencing of an affected calf revealed a single candidate causal mutation in the Ellis van Creveld syndrome 2 (EVC2) gene. This gene is known to be associated with chondrodysplastic dwarfism in Japanese Brown cattle, and dwarfism, abnormal nails and teeth, and dysostosis in humans with Ellis-van Creveld syndrome. Sanger sequencing confirmed the presence of a 2 bp deletion in exon 19 (c.2993_2994ACdel) that led to a premature stop codon in the coding sequence of bovine EVC2, and was concordant with the recessive pattern of inheritance in affected and carrier animals. This loss of function mutation confirms the important role of EVC2 in bone development. Genetic testing can now be used to eliminate this form of chondrodysplastic dwarfism from Tyrolean Grey cattle. PMID:24733244

  3. Morphometrics and behavior of a wild Asian elephant exhibiting disproportionate dwarfism.

    Science.gov (United States)

    de Silva, Shermin; Weerathunga, U Sameera; Pushpakumara, Tennekoon V

    2014-12-19

    Dwarfism is a condition characterized by shorter stature, at times accompanied by differential skeletal growth proportions relative to the species-typical physical conformation. Causes vary and are well-documented in humans as well as certain mammalian species in captive or laboratory conditions, but rarely observed in the wild. We report on a single case of apparent dwarfism in a free-ranging adult male Asian elephant in Sri Lanka, comparing physical dimensions to those of other males in the population as well as in previous literature. The subject M459 was found to have a shoulder height of approximately 195 cm, is shorter than the average height of typical mature males, with a body length of 218 cm. This ratio of body length to height deviates from what is typically observed, which is approximately 1:1, but was similar to the attributes of a dwarf elephant in captivity documented in 1955. We report on behavior including the surprising observation that M459 appears to have a competitive advantage in intrasexual contests. We discuss how this phenotype compares to cases of dwarfism in other non-human animals. M459 exemplifies a rare occurrence of disproportionate dwarfism in a free-ranging wild mammal that has survived to reproductive maturity and appears otherwise healthy.

  4. Intrauterine dwarfism, peculiar facies and thin bones with multiple fractures - a new syndrome

    International Nuclear Information System (INIS)

    Kozlowski, K.; Kan, A.; Royal Alexandra Hospital for Children, Sydney

    1988-01-01

    Three newborns with thin ribs and thin long bones with multiple fractures are reported. Whereas one patient presents a syndromic association of bone dysplasia and intrauterine dwarfism two other patients cannot be appropriately evaluated due to lack of basic clinical and pathologic data. (orig.)

  5. Genome-wide SNP association-based localization of a dwarfism gene in Friesian dwarf horses

    NARCIS (Netherlands)

    Orr, J.L.; Back, W.; Gu, J.; Leegwater, P.H.; Govindarajan, P.; Conroy, J.; Ducro, B.J.; Arendonk, van J.A.M.

    2010-01-01

    The recent completion of the horse genome and commercial availability of an equine SNP genotyping array has facilitated the mapping of disease genes. We report putative localization of the gene responsible for dwarfism, a trait in Friesian horses that is thought to have a recessive mode of

  6. Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

    NARCIS (Netherlands)

    de Munnik, S.A.; Otten, B.J.; Schoots, J.; Bicknell, L.S.; Aftimos, S.; Al-Aama, J.Y.; van Bever, Y.; Bober, M.B.; Borm, G.F.; Clayton-Smith, J.; Deal, C.L.; Edrees, A.Y.; Feingold, M.; Fryer, A.; van Hagen, J.M.; Hennekam, R.C.M.; Jansweijer, M.C.E.; Johnson, D.; Kant, S.G.; Opitz, J.M.; Ramadevi, A.R.; Reardon, W.; Ross, A.; Sarda, P.; Schrander-Stumpel, C.T.R.M.; Sluiter, A.E.; Temple, I.K.; Terhal, P.A.; Toutain, A.; Wise, C.A.; Wright, M.; Skidmore, D.L.; Samuels, M.E.; Hoefsloot, L.H.; Knoers, N.V.A.M.; Brunner, H.G.; Jackson, A.P.; Bongers, M.H.F.

    2012-01-01

    Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia. Recently, mutations in the ORC1, ORC4, ORC6, CDT1, and CDC6 genes, encoding components of the pre-replication complex, have been identified. This

  7. A novel two-step method for screening shade tolerant mutant plants via dwarfism

    Science.gov (United States)

    When subjected to shade, plants undergo rapid shoot elongation, which often makes them more prone to disease and mechanical damage. It has been reported that, in turfgrass, induced dwarfism can enhance shade tolerance. Here, we describe a two-step procedure for isolating shade tolerant mutants of ...

  8. A truncated F-box protein confers the dwarfism in cucumber

    Science.gov (United States)

    Dwarfism is an important plant architecture trait for cucumber breeding. In the present study, we identified a dwarf mutant 406M in cucumber which showed a shorter internode length as compared with its wild type. In a BC1F2 population from the cross of 406M with its wild type parental line 406, the ...

  9. Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population

    OpenAIRE

    Woo, Eun Jin; Lee, Won-Joon; Hu, Kyung-Seok; Hwang, Jae Joon

    2015-01-01

    Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and l...

  10. Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein

    DEFF Research Database (Denmark)

    Dauber, Andrew; LaFranchi, Stephen H.; Maliga, Zoltan

    2012-01-01

    Context: Microcephalic primordial dwarfism (MPD) is a rare, severe form of human growth failure in which growth restriction is evident in utero and continues into postnatal life. Single causative gene defects have been identified in a number of patients with MPD, and all involve genes fundamental...

  11. External radiotherapy of pituitary adenomas

    International Nuclear Information System (INIS)

    Zierhut, Dietmar; Flentje, Michael; Adolph, Juergen; Erdmann, Johannes; Raue, Friedhelm; Wannenmacher, Michael

    1995-01-01

    Purpose: To evaluate therapeutic outcome and side effects of radiotherapy in pituitary adenomas as sole or combined treatment. Methods and Materials: Retrospective analysis of 138 patients (74 male, 64 female) irradiated for pituitary adenoma from 1972 to 1991 was performed. Mean age was 49.7 years (15-80 years). Regular follow-up (in the mean 6.53 ± 3.99 years) included radiodiagnostical [computed tomography (CT), magnetic resonance imaging (MRI), x-ray], endocrinological, and ophthalmological examinations. Seventy patients suffered from nonfunctional pituitary adenoma, 50 patients suffered from growth-hormone producing adenomas, 11 had prolactinomas, and 7 patients had adrenocorticotropic hormone (ACTH) producing pituitary adenomas. In 99 patients surgery was followed by radiotherapy in case of suspected remaining tumor (invasive growth of the adenoma, assessment of the surgeon, pathologic CT after surgery, persisting hormonal overproduction). Twenty-three patients were treated for recurrence of disease after surgery and 16 patients received radiation as primary treatment. Total doses from 40-60 Gy (mean: 45.5 Gy) were given with single doses of 2 Gy 4 to five times a week. Results: Tumor control was achieved in 131 patients (94.9%). In seven patients, recurrence of disease was diagnosed in the mean 2.9 years (9-98 months) after radiotherapy and salvaged by surgery. A statistically significant dose-response relationship was found in favor of doses ≥ 45 Gy. Ninety percent of the patients with hormonally active pituitary adenomas had a benefit from radiotherapy in means of complete termination (38%) or at least reduction (52%) of hormonal overproduction. Partial or complete hypopituitarism after radiotherapy developed, depending on hormonal axis, in 12 (prolactin) to 27% (follicle-stimulating hormone FSH) of patients who had not already had hypopituitarism prior to radiation. Two out of 138 patients suffered reduction of visual acuity, which was, in part

  12. Application of thoracic endovascular aortic repair (TEVAR) in treating dwarfism with Stanford B aortic dissection: A case report.

    Science.gov (United States)

    Qiu, Jian; Cai, Wenwu; Shu, Chang; Li, Ming; Xiong, Qinggen; Li, Quanming; Li, Xin

    2018-04-01

    To apply thoracic endovascular aortic repair (TEVAR) to treat dwarfism complicated with Stanford B aortic dissection. In this report, we presented a 63-year-old male patient of dwarfism complicated with Stanford B aortic dissection successfully treated with TEVAR. He was diagnosed with dwarfism complicated with Stanford B aortic dissection. After conservative treatment, the male patient underwent TEVAR at 1 week after hospitalization. After operation, he presented with numbness and weakness of his bilateral lower extremities, and these symptoms were significantly mitigated after effective treatment. At 1- and 3-week after TEVAR, the aorta status was maintained stable and restored. The patient obtained favorable clinical prognosis and was smoothly discharged. During subsequent follow-up, he remained physically stable. TEVAR is probably an option for treating dwarfism complicated with Stanford B aortic dissection, which remains to be validated by subsequent studies with larger sample size.

  13. Addison's Disease and Pituitary Enlargement.

    Science.gov (United States)

    Winters, Stephen J; Vitaz, Todd; Nowacki, Michael R; Craddock, Durrett C; Silverman, Craig

    2015-06-01

    A 60-year-old man with Addison's disease, primary hypothyroidism and type 2 diabetes mellitus who was treated with stable doses of hydrocortisone and fludrocortisone developed increasing skin pigmentation and a bitemporal hemianopia. The plasma ACTH level was 14,464 pg/mL, and an invasive pituitary macroadenoma with suprasellar extension was found on magnetic resonance imaging leading to transnasal-transsphenoidal adenomectomy. The tumor demonstrated features of an eosinophilic adenoma and stained uniformly for ACTH. Residual tumor was treated with stereotactic radiotherapy. This case and the 13 cases published previously indicate that primary adrenal failure may predispose to corticotroph hyperplasia, and in some patients to the development of an invasive corticotroph adenoma. The ACTH level should be measured, and a pituitary magnetic resonance imaging is indicated when skin pigmentation increases in a patient with primary adrenal failure who is receiving customary treatment with glucocorticoids and mineralocorticoids.

  14. Pituitary gland development: an update.

    Science.gov (United States)

    Bancalari, Rodrigo E; Gregory, Louise C; McCabe, Mark J; Dattani, Mehul T

    2012-01-01

    The embryonic development of the pituitary gland involves a complex and highly spatio-temporally regulated network of integrating signalling molecules and transcription factors. Genetic mutations in any of these factors can lead to congenital hypopituitarism in association with a wide spectrum of craniofacial/midline defects ranging from incompatibility with life to holoprosencephaly (HPE) and cleft palate and septo-optic dysplasia (SOD). Increasing evidence supports a genotypic overlap with hypogonadotrophic hypogonadal disorders such as Kallmann syndrome, which is consistent with the known overlap in phenotypes between these disorders. This chapter reviews the cascade of events leading up to the successful development of the pituitary gland and to highlight key areas where genetic variations can occur thus leading to congenital hypopituitarism and associated defects. Copyright © 2012 S. Karger AG, Basel.

  15. CT scan of pituitary adenomas

    International Nuclear Information System (INIS)

    Sakoda, K.; Mukada, K.; Yonezawa, M.; Matsumura, S.; Yoshimoto, H.; Mori, S.; Uozumi, T.

    1981-01-01

    CT scan is an extremely useful, almost harmless means of diagnosing pituitary adenomas. Growth hormone (GH)-secreting adenomas tend to have higher absorption coefficent in plain CT than the nonfunctioning and prolactin (PRL)-secreting adenomas. The absorption coefficent on contrast-enhanced CT does not identify the specific type of adenoma. Ring-like enhancement was observed in five nonfunctioning and four PRL-secreting adenomas with suprasellar extension, while cystic components were observed in four nonfunctioning and four PRL-secreting adenomas. In three of ten cases of PRL-secreting microadenomas, the site corresponding to the adenoma was not enhanced, whereas the normal pituitary was. A correlation exists between the size of PRL-secreting adenoma and the serum PRL level, but not between the size of GH-secreting adenomas and the serum GH level. (orig.)

  16. Pituitary Apoplexy After Thyrotropin-releasing Hormone Stimulation Test in a Patient with Pituitary Macroadenoma

    Directory of Open Access Journals (Sweden)

    Huei-Fang Wang

    2007-09-01

    Full Text Available Pituitary apoplexy is a rare complication of pituitary tumors. We report a case of a 41-year-old female with acromegaly due to a pituitary macroadenoma, who developed pituitary apoplexy after a thyrotropin-releasing hormone (TRH 200 mg intravenous injection stimulation test. Neither emergency computed tomography (CT scans nor magnetic resonance imaging (MRI, performed 6 hours and 12 hours, respectively, after the active episode, disclosed the evidence of acute hemorrhage or infarction. Two days later, the pituitary mass, removed by transsphenoidal approach, showed ischemic necrosis and acute hemorrhage. The TRH test is generally safe for evaluating pituitary function, but pituitary apoplexy may occur after the procedure. CT and MRI may miss the diagnosis of pituitary apoplexy, especially if performed immediately after the acute episode.

  17. Light bodies in human pituitary adenomas

    DEFF Research Database (Denmark)

    Holck, S; Wewer, U M; Albrechtsen, R

    1987-01-01

    Light bodies are large cytoplasmic granules originally described in the gonadotrophic cells of the rat pituitary gland. In order to determine whether similar bodies occur in the human anterior pituitary gland, 89 pituitary adenomas and periadenomatous tissue from 20 cases were examined...... cells in periadenomatous tissue from 20 cases. These results show that some human pituitary adenomas may contain light bodies identical to those seen in gonadotrophs of rat pituitary....... by transmission electron microscopy. Double membrane bound bodies with filamentous internal structure identical to rodent light bodies were identified in 10 hormone-producing adenomas: 5 PRL, 1 PRL-GH, 2 GH, and 2 ACTH-producing tumours. No light bodies were found in the remaining 79 tumours nor in the pituitary...

  18. A pediatric case of pituitary macroadenoma presenting with pituitary apoplexy and cranial nerve involvement: case report

    OpenAIRE

    Özçetin, Mustafa; Karacı, Mehmet; Toroslu, Ertuğ; Edebali, Nurullah

    2016-01-01

    Pituitary adenomas usually arise from the anterior lobe of the pituitary gland and are manifested with hormonal disorders or mass effect. Mass effect usually occurs in nonfunctional tumors. Pituitary adenomas may be manifested with visual field defects or rarely in the form of total oculomotor palsy. Visual field defect is most frequently in the form of bitemporal hemianopsia and superior temporal defect. Sudden loss of vision, papilledema and ophthalmoplegia may be observed. Pituitary apople...

  19. Hereditary pituitary hyperplasia with infantile gigantism.

    Science.gov (United States)

    Gläsker, Sven; Vortmeyer, Alexander O; Lafferty, Antony R A; Hofman, Paul L; Li, Jie; Weil, Robert J; Zhuang, Zhengping; Oldfield, Edward H

    2011-12-01

    We report hereditary pituitary hyperplasia. The objective of the study was to describe the results of the clinical and laboratory analysis of this rare instance of hereditary pituitary hyperplasia. The study is a retrospective analysis of three cases from one family. The study was conducted at the National Institutes of Health, a tertiary referral center. A mother and both her sons had very early-onset gigantism associated with high levels of serum GH and prolactin. The condition was treated by total hypophysectomy. We performed clinical, pathological, and molecular evaluations, including evaluation basal and provocative endocrine testing, neuroradiological assessment, and assessment of the pituitary tissue by microscopic evaluation, immunohistochemistry, and electron microscopy. All three family members had very early onset of gigantism associated with abnormally high serum levels of GH and prolactin. Serum GHRH levels were not elevated in either of the boys. The clinical, radiographic, surgical, and histological findings indicated mammosomatotroph hyperplasia. The pituitary gland of both boys revealed diffuse mammosomatotroph hyperplasia of the entire pituitary gland without evidence of adenoma. Prolactin and GH were secreted by the same cells within the same secretory granules. Western blot and immunohistochemistry demonstrated expression of GHRH in clusters of cells distributed throughout the hyperplastic pituitary of both boys. This hereditary condition seems to be a result of embryonic pituitary maldevelopment with retention and expansion of the mammosomatotrophs. The findings suggest that it is caused by paracrine or autocrine pituitary GHRH secretion during pituitary development.

  20. Tablets or scalpel: Pituitary hyperplasia due to primary hypothyroidism

    Directory of Open Access Journals (Sweden)

    Ahmed Imran Siddiqi, MBBS, MRCP

    2015-01-01

    Full Text Available We describe a patient with pituitary hyperplasia due to primary hypothyroidism. Pituitary hyperplasia and pituitary masses cannot be reliably differentiated on imaging alone, despite significant improvement in imaging quality in recent years.

  1. TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.

    Science.gov (United States)

    Harley, Margaret E; Murina, Olga; Leitch, Andrea; Higgs, Martin R; Bicknell, Louise S; Yigit, Gökhan; Blackford, Andrew N; Zlatanou, Anastasia; Mackenzie, Karen J; Reddy, Kaalak; Halachev, Mihail; McGlasson, Sarah; Reijns, Martin A M; Fluteau, Adeline; Martin, Carol-Anne; Sabbioneda, Simone; Elcioglu, Nursel H; Altmüller, Janine; Thiele, Holger; Greenhalgh, Lynn; Chessa, Luciana; Maghnie, Mohamad; Salim, Mahmoud; Bober, Michael B; Nürnberg, Peter; Jackson, Stephen P; Hurles, Matthew E; Wollnik, Bernd; Stewart, Grant S; Jackson, Andrew P

    2016-01-01

    DNA lesions encountered by replicative polymerases threaten genome stability and cell cycle progression. Here we report the identification of mutations in TRAIP, encoding an E3 RING ubiquitin ligase, in patients with microcephalic primordial dwarfism. We establish that TRAIP relocalizes to sites of DNA damage, where it is required for optimal phosphorylation of H2AX and RPA2 during S-phase in response to ultraviolet (UV) irradiation, as well as fork progression through UV-induced DNA lesions. TRAIP is necessary for efficient cell cycle progression and mutations in TRAIP therefore limit cellular proliferation, providing a potential mechanism for microcephaly and dwarfism phenotypes. Human genetics thus identifies TRAIP as a component of the DNA damage response to replication-blocking DNA lesions.

  2. [Mutation analysis of FGFR3 gene in a family featuring hereditary dwarfism].

    Science.gov (United States)

    Zhang, Qiong; Jiang, Hai-ou; Quan, Qing-li; Li, Jun; He, Ting; Huang, Xue-shuang

    2011-12-01

    To investigate the clinical symptoms and potential mutation in FGFR3 gene for a family featuring hereditary dwarfism in order to attain diagnosis and provide prenatal diagnosis. Five patients and two unaffected relatives from the family, in addition with 100 healthy controls, were recruited. Genome DNA was extracted. Exons 10 and 13 of the FGFR3 gene were amplified using polymerase chain reaction (PCR). PCR products were sequenced in both directions. All patients had similar features including short stature, short limbs, lumbar hyperlordosis but normal craniofacial features. A heterozygous mutation G1620T (N540K) was identified in the cDNA from all patients but not in the unaffected relatives and 100 control subjects. A heterozygous G380R mutation was excluded. The hereditary dwarfism featured by this family has been caused by hypochondroplasia (HCH) due to a N540K mutation in the FGFR3 gene.

  3. A unique virulence factor for proliferation and dwarfism in plants identified from a phytopathogenic bacterium

    Science.gov (United States)

    Hoshi, Ayaka; Oshima, Kenro; Kakizawa, Shigeyuki; Ishii, Yoshiko; Ozeki, Johji; Hashimoto, Masayoshi; Komatsu, Ken; Kagiwada, Satoshi; Yamaji, Yasuyuki; Namba, Shigetou

    2009-01-01

    One of the most important themes in agricultural science is the identification of virulence factors involved in plant disease. Here, we show that a single virulence factor, tengu-su inducer (TENGU), induces witches' broom and dwarfism and is a small secreted protein of the plant-pathogenic bacterium, phytoplasma. When tengu was expressed in Nicotiana benthamiana plants, these plants showed symptoms of witches' broom and dwarfism, which are typical of phytoplasma infection. Transgenic Arabidopsis thaliana lines expressing tengu exhibited similar symptoms, confirming the effects of tengu expression on plants. Although the localization of phytoplasma was restricted to the phloem, TENGU protein was detected in apical buds by immunohistochemical analysis, suggesting that TENGU was transported from the phloem to other cells. Microarray analyses showed that auxin-responsive genes were significantly down-regulated in the tengu-transgenic plants compared with GUS-transgenic control plants. These results suggest that TENGU inhibits auxin-related pathways, thereby affecting plant development. PMID:19329488

  4. Pituitary disorders and their extra-pituitary implications : observations in patients with nonfunctioning pituitary macroadenoma and the IGSF1 deficiency syndrome

    NARCIS (Netherlands)

    Joustra, S.D.

    2016-01-01

    In this thesis, we explored pituitary functioning and extra-pituitary implications of two pituitary disorders in humans. In part A, we focused on the long-term consequences of the diagnosis and treatment of nonfunctioning pituitary macroadenoma (NFMA) on hypothalamic regulation of circadian

  5. A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle.

    Science.gov (United States)

    Schwarzenbacher, Hermann; Wurmser, Christine; Flisikowski, Krzysztof; Misurova, Lubica; Jung, Simone; Langenmayer, Martin C; Schnieke, Angelika; Knubben-Schweizer, Gabriela; Fries, Ruedi; Pausch, Hubert

    2016-03-31

    Low birth weight and postnatal growth restriction are the most evident symptoms of dwarfism. Accompanying skeletal aberrations may compromise the general condition and locomotion of affected individuals. Several paternal half-sibs with a low birth weight and a small size were born in 2013 in the Fleckvieh cattle population. Affected calves were strikingly underweight at birth in spite of a normal gestation length and had craniofacial abnormalities such as elongated narrow heads and brachygnathia inferior. In spite of a normal general condition, their growth remained restricted during rearing. We genotyped 27 affected and 10,454 unaffected animals at 44,672 single nucleotide polymorphisms and performed association tests followed by homozygosity mapping, which allowed us to map the locus responsible for growth failure to a 1.85-Mb segment on bovine chromosome 3. Analysis of whole-genome re-sequencing data from one affected and 289 unaffected animals revealed a 1-bp deletion (g.15079217delC, rs723240647) in the coding region of the GON4L gene that segregated with the dwarfism-associated haplotype. We showed that the deletion induces intron retention and premature termination of translation, which can lead to a severely truncated protein that lacks domains that are likely essential to normal protein function. The widespread use of an undetected carrier bull for artificial insemination has resulted in a tenfold increase in the frequency of the deleterious allele in the female population. A frameshift mutation in GON4L is associated with autosomal recessive proportionate dwarfism in Fleckvieh cattle. The mutation has segregated in the population for more than 50 years without being recognized as a genetic disorder. However, the widespread use of an undetected carrier bull for artificial insemination caused a sudden accumulation of homozygous calves with dwarfism. Our findings provide the basis for genome-based mating strategies to avoid the inadvertent mating of carrier

  6. Total knee arthroplasty in a pseudoachondroplastic dwarfism patient with bilateral patellar dislocation.

    Science.gov (United States)

    Oh, Kwang-Jun; Yoon, Jung-Ro; Yang, Jae-Hyuk

    2013-01-01

    Late presentation of congenital patellar dislocation with advanced osteoarthritis is rare. This article presents a case of a 59-year-old man with underlying pseudoachondroplastic dwarfism. Advanced osteoarthritis due to bilateral neglected congenital patellar dislocation was treated with total knee arthroplasty without patella relocation surgery. Two years later, the patient had an improvement in Knee Society scores, painless function, and stability. Copyright © 2012 Elsevier B.V. All rights reserved.

  7. Skeletal dysplasia with craniofacial deformity and disproportionate dwarfism in hair sheep of northeastern Brazil.

    Science.gov (United States)

    Dantas, F P M; Medeiros, G X; Figueiredo, A P M; Thompson, K; Riet-Correa, F

    2014-01-01

    This paper reports a newly described form of skeletal dysplasia affecting Brazilian hair sheep of the Cabugi breed. This breed is characterized by having a short head and in some cases the animals are smaller and more compact than sheep of similar breeds. Lambs born with craniofacial abnormalities and dwarfism that die at 2-6 months of age are frequent in this breed. In a flock of 68 ewes and three rams of the Cabugi breed, 134 lambs were born over a 4-year period. Of these, 14 (10.4%) had marked cranial abnormalities and dwarfism and died or were humanely destroyed, 43 (32%) had a normal face and 77 (57.5%) had the short face characteristic of the breed. Dwarf lambs were much smaller than normal, with short legs, a domed head with retruded muzzle and protruded mandible, sternal deformities and exophthalmic eyes situated more laterally in the face than normal. Microscopical examination of long bones of the limbs, bones of the base of the skull and vertebrae showed no lesions. Bones from four affected lambs and one control lamb were macerated for morphometric examination. Although the length of the spinal cord was similar, there was disproportionate shortening of the appendicular bones, particularly the distal segments. Thus the disease was defined as a skeletal dysplasia characterized by craniofacial deformity and disproportionate dwarfism. It is suggested that the disease is inherited as an incomplete dominant trait. The shortened face, which is a feature of the Cabugi breed, may represent the heterozygous state and the more severe, often lethal, dwarfism may occur in homozygotes. Copyright © 2013 Elsevier Ltd. All rights reserved.

  8. Increased intracellular proteolysis reduces disease severity in an ER stress–associated dwarfism

    OpenAIRE

    Mullan, Lorna; Mularczyk, Ewa; Kung, Louise; Forouhan, Mitra; Wragg, Jordan; Goodacre, Royston; Bateman, John F.; Swanton, Eileithyia; Briggs, Michael; Boot-Handford, Raymond

    2017-01-01

    The short-limbed dwarfism metaphyseal chondrodysplasia type Schmid (MCDS) is linked to mutations in type X collagen, which increase ER stress by inducing misfolding of the mutant protein and subsequently disrupting hypertrophic chondrocyte differentiation. Here, we show that carbamazepine (CBZ), an autophagy-stimulating drug that is clinically approved for the treatment of seizures and bipolar disease, reduced the ER stress induced by 4 different MCDS-causing mutant forms of collagen X in hum...

  9. Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome

    OpenAIRE

    Dieks, Jana-Katharina; Baumer, Alessandra; Wilichowski, Ekkehard; Rauch, Anita; Sigler, Matthias

    2014-01-01

    To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome. In microcephalic osteodysplastic primordial dwarfism type II (MOPD II; disproportionate short statue, microcephaly, facial abnormalities), however, cerebral aneurysms and other vascular abnormalities are frequent complications. MOPD II is a genetic disorder caused by mutations in the pericentrin (PC...

  10. A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle

    OpenAIRE

    Schwarzenbacher, Hermann; Wurmser, Christine M.; Flisikowski, Krzysztof; Misurova, Lubica; Jung, Simone; Langenmayer, Martin C.; Schnieke, Angelika; Knubben-Schweizer, Gabriela; Fries, Ruedi; Pausch, Hubert

    2016-01-01

    Background Low birth weight and postnatal growth restriction are the most evident symptoms of dwarfism. Accompanying skeletal aberrations may compromise the general condition and locomotion of affected individuals. Several paternal half-sibs with a low birth weight and a small size were born in 2013 in the Fleckvieh cattle population. Results Affected calves were strikingly underweight at birth in spite of a normal gestation length and had craniofacial abnormalities such as elongated narrow h...

  11. Genome-wide SNP association-based localization of a dwarfism gene in Friesian dwarf horses.

    Science.gov (United States)

    Orr, N; Back, W; Gu, J; Leegwater, P; Govindarajan, P; Conroy, J; Ducro, B; Van Arendonk, J A M; MacHugh, D E; Ennis, S; Hill, E W; Brama, P A J

    2010-12-01

    The recent completion of the horse genome and commercial availability of an equine SNP genotyping array has facilitated the mapping of disease genes. We report putative localization of the gene responsible for dwarfism, a trait in Friesian horses that is thought to have a recessive mode of inheritance, to a 2-MB region of chromosome 14 using just 10 affected animals and 10 controls. We successfully genotyped 34,429 SNPs that were tested for association with dwarfism using chi-square tests. The most significant SNP in our study, BIEC2-239376 (P(2df)=4.54 × 10(-5), P(rec)=7.74 × 10(-6)), is located close to a gene implicated in human dwarfism. Fine-mapping and resequencing analyses did not aid in further localization of the causative variant, and replication of our findings in independent sample sets will be necessary to confirm these results. © 2010 The Authors, Journal compilation © 2010 Stichting International Foundation for Animal Genetics.

  12. Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.

    Science.gov (United States)

    Cavanagh, Julie A L; Tammen, Imke; Windsor, Peter A; Bateman, John F; Savarirayan, Ravi; Nicholas, Frank W; Raadsma, Herman W

    2007-11-01

    Bulldog dwarfism in Dexter cattle is one of the earliest single-locus disorders described in animals. Affected fetuses display extreme disproportionate dwarfism, reflecting abnormal cartilage development (chondrodysplasia). Typically, they die around the seventh month of gestation, precipitating a natural abortion. Heterozygotes show a milder form of dwarfism, most noticeably having shorter legs. Homozygosity mapping in candidate regions in a small Dexter pedigree suggested aggrecan (ACAN) as the most likely candidate gene. Mutation screening revealed a 4-bp insertion in exon 11 (2266_2267insGGCA) (called BD1 for diagnostic testing) and a second, rarer transition in exon 1 (-198C>T) (called BD2) that cosegregate with the disorder. In chondrocytes from cattle heterozygous for the insertion, mutant mRNA is subject to nonsense-mediated decay, showing only 8% of normal expression. Genotyping in Dexter families throughout the world shows a one-to-one correspondence between genotype and phenotype at this locus. The heterozygous and homozygous-affected Dexter cattle could prove invaluable as a model for human disorders caused by mutations in ACAN.

  13. Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.

    Science.gov (United States)

    Payne, Felicity; Colnaghi, Rita; Rocha, Nuno; Seth, Asha; Harris, Julie; Carpenter, Gillian; Bottomley, William E; Wheeler, Eleanor; Wong, Stephen; Saudek, Vladimir; Savage, David; O'Rahilly, Stephen; Carel, Jean-Claude; Barroso, Inês; O'Driscoll, Mark; Semple, Robert

    2014-09-01

    Structural maintenance of chromosomes (SMC) complexes are essential for maintaining chromatin structure and regulating gene expression. Two the three known SMC complexes, cohesin and condensin, are important for sister chromatid cohesion and condensation, respectively; however, the function of the third complex, SMC5-6, which includes the E3 SUMO-ligase NSMCE2 (also widely known as MMS21) is less clear. Here, we characterized 2 patients with primordial dwarfism, extreme insulin resistance, and gonadal failure and identified compound heterozygous frameshift mutations in NSMCE2. Both mutations reduced NSMCE2 expression in patient cells. Primary cells from one patient showed increased micronucleus and nucleoplasmic bridge formation, delayed recovery of DNA synthesis, and reduced formation of foci containing Bloom syndrome helicase (BLM) after hydroxyurea-induced replication fork stalling. These nuclear abnormalities in patient dermal fibroblast were restored by expression of WT NSMCE2, but not a mutant form lacking SUMO-ligase activity. Furthermore, in zebrafish, knockdown of the NSMCE2 ortholog produced dwarfism, which was ameliorated by reexpression of WT, but not SUMO-ligase-deficient NSMCE. Collectively, these findings support a role for NSMCE2 in recovery from DNA damage and raise the possibility that loss of its function produces dwarfism through reduced tolerance of replicative stress.

  14. Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism.

    Science.gov (United States)

    Amselem, S; Sobrier, M L; Duquesnoy, P; Rappaport, R; Postel-Vinay, M C; Gourmelen, M; Dallapiccola, B; Goossens, M

    1991-01-01

    In addition to its classical effects on growth, growth hormone (GH) has been shown to have a number of other actions, all of which are initiated by an interaction with specific high affinity receptors present in a variety of tissues. Purification of a rabbit liver protein via its ability to bind GH has allowed the isolation of a cDNA encoding a putative human growth hormone receptor that belongs to a new class of transmembrane receptors. We have previously shown that this putative growth hormone receptor gene is genetically linked to Laron dwarfism, a rare autosomal recessive syndrome caused by target resistance to GH. Nevertheless, the inability to express the corresponding full-length coding sequence and the lack of a test for growth-promoting function have hampered a direct confirmation of its role in growth. We have now identified three nonsense mutations within this growth hormone receptor gene, lying at positions corresponding to the amino terminal extremity and causing a truncation of the molecule, thereby deleting a large portion of both the GH binding domain and the full transmembrane and intracellular domains. Three independent patients with Laron dwarfism born of consanguineous parents were homozygous for these defects. Two defects were identical and consisted of a CG to TG transition. Not only do these results confirm the growth-promoting activity of this receptor but they also suggest that CpG doublets may represent hot spots for mutations in the growth hormone receptor gene that are responsible for hereditary dwarfism. Images PMID:1999489

  15. Lateral retroperitoneal transpsoas interbody fusion in a patient with achondroplastic dwarfism.

    Science.gov (United States)

    Staub, Blake N; Holman, Paul J

    2015-02-01

    The authors present the first reported use of the lateral retroperitoneal transpsoas approach for interbody arthrodesis in a patient with achondroplastic dwarfism. The inherent anatomical abnormalities of the spine present in achondroplastic dwarfism predispose these patients to an increased incidence of spinal deformity as well as neurogenic claudication and potential radicular symptoms. The risks associated with prolonged general anesthesia and intolerance of significant blood loss in these patients makes them ideal candidates for minimally invasive spinal surgery. The patient in this case was a 51-year-old man with achondroplastic dwarfism who had a history of progressive claudication and radicular pain despite previous extensive lumbar laminectomies. The lateral retroperitoneal transpsoas approach was used for placement of interbody cages at L1/2, L2/3, L3/4, and L4/5, followed by posterior decompression and pedicle screw instrumentation. The patient tolerated the procedure well with no complications. Postoperatively his claudicatory and radicular symptoms resolved and a CT scan revealed solid arthrodesis with no periimplant lucencies.

  16. Microsurgical therapy of pituitary adenomas.

    Science.gov (United States)

    Mortini, Pietro; Barzaghi, Lina Raffaella; Albano, Luigi; Panni, Pietro; Losa, Marco

    2018-01-01

    We report the efficacy and safety of transsphenoidal microsurgery in a large and homogeneous cohort of patients with pituitary adenomas (PAs) treated at a single Institute by a single neurosurgeon. A total of 2145 consecutive patients undergoing first surgery for a PA were included: 795 (37.1%) had a nonfunctioning pituitary adenoma (NFPA), 595 (27.7%) acromegaly, 496 (23.1%) Cushing's disease, 208 (9.7%) a PRL-secreting adenoma, and 51 patients (2.4%) a TSH-secreting adenoma. Remission was achieved when strict hormonal and radiological criteria were met. Early surgical remission was achieved in 66% of acromegalic patients, 79.6% of patients with Cushing's disease, 64.4% of prolactinomas, 74.5% of patients with a TSH-secreting adenoma, and 66.9% of NFPAs. The mean (±SE) follow-up was 60.1 ± 1.3 months. The recurrence-free survival at 10 years was 78.2% in acromegalic patients, 68.1% in prolactinomas, 74.3% in Cushing's disease, 70.3% in TSH-secreting adenomas, and 75.3% in NFPAs. Preoperative hypoadrenalism recovered in 35.3%, hypogonadism in 43.3% and hypothyroidism in 37.4% of patients with impaired function before surgery. The mortality rate was 0.2% and major morbidity 2.1%. New onset hypoadrenalism occurred after surgery in 2.5% of patients at risk, hypogonadism in 4.1%, and hypothyroidism in 1.8%. Permanent diabetes insipidus (DI) occurred in 0.9% of patients. In experienced hands, transsphenoidal microsurgery for PAs achieves remission in most patients with a low complication rate. Pituitary function is preserved in most cases and can recover in more than one-third of patients with preoperative hypopituitarism.

  17. Pituitary Gigantism: A Case Report

    Directory of Open Access Journals (Sweden)

    Rana Bhattacharjee

    2012-01-01

    Full Text Available Objective: To present a rare case of gigantism. Case Report: A 25-year-old lady presented with increased statural growth and enlarged body parts noticed since the age of 14 years, primary amenorrhea, and frontal headache for the last 2 years.She has also been suffering from non-inflammatory low back pain with progressive kyphosis and pain in the knees, ankles, and elbows for the last 5 years. There was no history of visual disturbance, vomiting, galactorrhoea, cold intolerance. She had no siblings. Family history was non-contributory.Blood pressure was normal. Height 221 cm, weight 138 kg,body mass index (BMI28. There was coarsening of facial features along with frontal bossing and prognathism, large hands and feet, and small goitre. Patient had severe kyphosis and osteoarthritis of knees. Confrontation perimetry suggested bitemporal hemianopia. Breast and pubic hair were of Tanner stage 1. Serum insulin like growth factor-1 (IGF1 was 703 ng/ml with all glucose suppressedgrowth hormone (GHvalues of >40 ng/ml. Prolactin was 174 ng/ml. Basal serum Lutenising Hormone (LH, follicle stimulating Hormone (FSH was low. Oral glucose tolerance test (OGTT, liver and renal function tests, basal cortisol and thyroid profile, Calcium, phosphorus and Intact Parathyroid hormone (iPTH were normal.Computed tomographyscan of brain showed large pituitary macroadenoma. Automated perimetry confirmed bitemporal hemianopia. A diagnosis of gigantism due to GH secreting pituitary macroadenoma with hypogonadotrophichypogonadism was made. Debulking pituitary surgery followed by somatostatin analogue therapy with gonadal steroid replacement had been planned, but the patient refused further treatment.

  18. Pituitary gigantism: a case report.

    Science.gov (United States)

    Bhattacharjee, Rana; Roy, Ajitesh; Goswami, Soumik; Selvan, Chitra; Chakraborty, Partha P; Ghosh, Sujoy; Biswas, Dibakar; Dasgupta, Ranen; Mukhopadhyay, Satinath; Chowdhury, Subhankar

    2012-12-01

    To present a rare case of gigantism. A 25-year-old lady presented with increased statural growth and enlarged body parts noticed since the age of 14 years, primary amenorrhea, and frontal headache for the last 2 years. She has also been suffering from non-inflammatory low back pain with progressive kyphosis and pain in the knees, ankles, and elbows for the last 5 years. There was no history of visual disturbance, vomiting, galactorrhoea, cold intolerance. She had no siblings. Family history was non-contributory. Blood pressure was normal. Height 221 cm, weight 138 kg, body mass index (BMI)28. There was coarsening of facial features along with frontal bossing and prognathism, large hands and feet, and small goitre. Patient had severe kyphosis and osteoarthritis of knees. Confrontation perimetry suggested bitemporal hemianopia. Breast and pubic hair were of Tanner stage 1. Serum insulin like growth factor-1 (IGF1) was 703 ng/ml with all glucose suppressedgrowth hormone (GH)values of >40 ng/ml. Prolactin was 174 ng/ml. Basal serum Lutenising Hormone (LH), follicle stimulating Hormone (FSH) was low. Oral glucose tolerance test (OGTT), liver and renal function tests, basal cortisol and thyroid profile, Calcium, phosphorus and Intact Parathyroid hormone (iPTH) were normal. Computed tomographyscan of brain showed large pituitary macroadenoma. Automated perimetry confirmed bitemporal hemianopia. A diagnosis of gigantism due to GH secreting pituitary macroadenoma with hypogonadotrophichypogonadism was made. Debulking pituitary surgery followed by somatostatin analogue therapy with gonadal steroid replacement had been planned, but the patient refused further treatment.

  19. Radiation Therapy of Pituitary Tumors

    Energy Technology Data Exchange (ETDEWEB)

    Park, Moon Baik; Hong, Seong Eong [Kyunghee University College of Medicine, Seoul (Korea, Republic of)

    1989-12-15

    Radiation treatment results were analyzed in a retrospective analysis of 47 patients with pituitary adenoma treated with radiation alone or combined with surgery from 1974 through 1987 at the Department of Therapeutic Radiology of Kyung Hee University. The 5-year overall survival rates for all patients was 80.4%. Radiation therapy was effective for improving visual symptoms and headache, but could not normalize amenorrhea and galactorrhoea. There was no difference of survival rate between radiation alone and combination with surgery. Prognostic factors such as age, sex, disease type, visual field, headache and surgical treatment were statistically no significant in survival rates of these patients.

  20. Radiation Therapy of Pituitary Tumors

    International Nuclear Information System (INIS)

    Park, Moon Baik; Hong, Seong Eong

    1989-01-01

    Radiation treatment results were analyzed in a retrospective analysis of 47 patients with pituitary adenoma treated with radiation alone or combined with surgery from 1974 through 1987 at the Department of Therapeutic Radiology of Kyung Hee University. The 5-year overall survival rates for all patients was 80.4%. Radiation therapy was effective for improving visual symptoms and headache, but could not normalize amenorrhea and galactorrhoea. There was no difference of survival rate between radiation alone and combination with surgery. Prognostic factors such as age, sex, disease type, visual field, headache and surgical treatment were statistically no significant in survival rates of these patients

  1. NMR characterization of pituitary tumors

    International Nuclear Information System (INIS)

    Osbakken, M.; Gonzales, J.; Page, R.

    1984-01-01

    Twelve patients (5 male, 7 female, mean age 37.9 +- 20) with pituitary tumors were extensively evaluated with NMR imaging using a 1.5K gauss resistive magnet. Saturation recovery (SR), inversion recovery (IR) and spin echo (SE) pulse sequences were used for qualitative characterization of the lesions. T/sub 1/ calculations were also performed for brain and pituitary. Tumor histology and endocrine status were correlated with NMR data. All tumors were large with suprasellar extension (6 with prolactin secretion, 6 without). Pituitary T/sub 1/'s ranged from .2 to .64, the mean T/sub 1/ being longer than that of brain (Brain = .4 +- .04; Pit = .48 +- .14). 3 patients with histological evidence of homogeneous adenomas had long T/sub 1/'s (0.58 +- .05). 3 patients with evidence of recent or old hemorhage into the pituitary had much shorter T/sub 1/'s (0.29 +- .12). There was no relationship between prolactin secretion and T/sub 1/. Qualitative T/sub 1/ and T/sub 2/ information can be obtained by using a combination of SR, IR, and SE images. Using this method in the patients, homogeneous adenomas had similar T/sub 1/'s and longer T/sub 2/'s compared to the brain, while patients with bleeds had shorter T/sub 1/'s and T/sub 2/'s. Image T/sub 1/ characteristics correlated well with the calculated T/sub 1/ values. The range of T/sub 1/ (and potentially T/sub 2/) values which occur in apparently similar lesions are most likely due to anatomical and pathophysiological variations in these lesions. It may be ultimately possible to separate different types of pathological processes based on NMR image T/sub 1/ and T/sub 2/ characteristics after careful comparative studies of NMR and histological data are completed. The combination of calculated T/sub 1/ and T/sub 2/ with image T/sub 1/ and T/sub 2/ information may also be useful in further characterization of lesions

  2. Pituitary gland and sella turcica

    International Nuclear Information System (INIS)

    Kucharczyk, W.

    1987-01-01

    The investigation of pituitary pathology has undergone significant changes during the past two decades. CT permitted direct visualization of the sella turcica and its soft tissue contents in a noninvasive manner. Magnetic resonance imaging (MRI) now offers significant advantages over CT without intravenous contrast or radiation exposure. There is substantially greater soft tissue contrast as well as excellent definition of adjacent vascular structures. With the current generation of MR systems, much improved spatial definition is possible. Thus, the spatial resolution of MRI is now competitive with CT. In view of the many other advantages described, MRI is superceding CT as the modality of choice for evaluating the sella turcica

  3. Pituitary gigantism causing diabetic ketoacidosis.

    Science.gov (United States)

    Alvi, N S; Kirk, J M

    1999-01-01

    Although growth hormone excess (acromegaly) in association with glucose intolerance and diabetes mellitus is well documented in adult medicine, it is much less common in the paediatric age group. We report the case of a 13 year-old boy who presented with tall stature secondary to a large growth hormone secreting adenoma of the pituitary gland. Random growth hormone was 630 mIU/l and did not suppress during an oral glucose tolerance test. Following debulking of the tumour, he developed diabetic ketoacidosis requiring insulin treatment, but after further surgery glucose handling returned to normal. He has been started on testosterone to arrest further increase in height.

  4. Pituitary aspergillosis abscess in an immunocompetent black ...

    African Journals Online (AJOL)

    The diagnosis of aspergillus was confirmed by histopathology. The postoperative course was good with the administration of antifungal chemotherapy. Conclusion Pituitary Aspergellosis is not only rare, but also bears clinical, biological and radiological resemblance to pituitary adenoma; it should therefore be regarded as a ...

  5. Hypothalamic functions in patients with pituitary insufficiency

    NARCIS (Netherlands)

    Borgers, A.J.F.

    2013-01-01

    The main objective of this thesis is to increase our understanding of hypothalamic (dys)function in patients with pituitary insufficiency. This goal is driven by the clinical experience of persisting symptoms in patients adequately treated for pituitary insufficiency. We focus primarily on patients

  6. MR differentiation of craniopharyngioma from pituitary macroadenoma

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Hyun Soo; Ahn, Kook Jin; Kim, Jee Young; Lee, Jeong Whee; Jeh, Soo Kyung; Park, Hae Kwan; Lee, Kyung Jin; Hahn, Seong Tae [Catholic University College of Medicine, Seoul (Korea, Republic of)

    2006-07-15

    We wanted to determine the differential points between craniopharyngioma and pituitary macroadenoma on MRI. The MRI findings in twenty seven patients (age range: 14-67 years, mean age: 46 years, 17 males and 10 females) with pathologically proven craniopharyngioma and twenty four patients (age range: 23-64 years, mean age: 54 years, 8 males and 16 females) with pathologically proven pituitary macroadenoma were analyzed retrospectively by two radiologists. We analyzed the location, the contour of the mass, the presence of high signal intensity on the T1 weighted images, the thickness of the enhancing wall, separation between the mass and the pituitary gland, and the presence of attachment or compression to the midbrain. On MRI, craniopharyngiomas showed a suprasellar location, high signal intensity on the T1 weighted images and a larger suprasellar portion. After contrast enhancement, the separation of the mass from the pituitary gland is more distinct than that of the pituitary macroadenomas. The craniopharyngiomas showed the presence of attachment or compression to the midbrain. The pituitary macroadenomas had a larger intra-or infrasellar portion than that of the craniopharyngiomas, and they also showed a thicker enhancing wall after contrast enhancement. The location, contour of the mass, presence of high signal intensity on T1 weighted images, thickness of the enhancing wall, separation of the mass from the pituitary gland and the presence of attachment or compression to midbrain are useful differential points between craniophayngioma and pituitary macroadenoma on MRI.

  7. MR differentiation of craniopharyngioma from pituitary macroadenoma

    International Nuclear Information System (INIS)

    Kim, Hyun Soo; Ahn, Kook Jin; Kim, Jee Young; Lee, Jeong Whee; Jeh, Soo Kyung; Park, Hae Kwan; Lee, Kyung Jin; Hahn, Seong Tae

    2006-01-01

    We wanted to determine the differential points between craniopharyngioma and pituitary macroadenoma on MRI. The MRI findings in twenty seven patients (age range: 14-67 years, mean age: 46 years, 17 males and 10 females) with pathologically proven craniopharyngioma and twenty four patients (age range: 23-64 years, mean age: 54 years, 8 males and 16 females) with pathologically proven pituitary macroadenoma were analyzed retrospectively by two radiologists. We analyzed the location, the contour of the mass, the presence of high signal intensity on the T1 weighted images, the thickness of the enhancing wall, separation between the mass and the pituitary gland, and the presence of attachment or compression to the midbrain. On MRI, craniopharyngiomas showed a suprasellar location, high signal intensity on the T1 weighted images and a larger suprasellar portion. After contrast enhancement, the separation of the mass from the pituitary gland is more distinct than that of the pituitary macroadenomas. The craniopharyngiomas showed the presence of attachment or compression to the midbrain. The pituitary macroadenomas had a larger intra-or infrasellar portion than that of the craniopharyngiomas, and they also showed a thicker enhancing wall after contrast enhancement. The location, contour of the mass, presence of high signal intensity on T1 weighted images, thickness of the enhancing wall, separation of the mass from the pituitary gland and the presence of attachment or compression to midbrain are useful differential points between craniophayngioma and pituitary macroadenoma on MRI

  8. Infrasellar pituitary gangliocytoma causing Cushing's syndrome.

    Science.gov (United States)

    Domingue, Marie-Eve; Marbaix, Etienne; Do Rego, Jean-Luc; Col, Vincent; Raftopoulos, Christian; Duprez, Thierry; Vaudry, Hubert; Maiter, Dominique

    2015-10-01

    Pituitary gangliocytomas are uncommon neuronal tumours that may present with endocrine disorders, the most frequent being acromegaly caused by growth hormone hypersecretion. Cushing's syndrome is very rarely seen with gangliocytomas. We report the unique case of a 62 year-old woman whose clinical picture and endocrine testing clearly demonstrated adrenocorticotropin (ACTH)-dependent Cushing's syndrome. Pituitary magnetic resonance imaging showed a 12-mm homogeneous, infra- and retrosellar mass first diagnosed as pituitary macroadenoma. Transsphenoidal surgery was performed and allowed complete resection of the tumour with sparing of normal anterior pituitary. Very low postoperative serum cortisol and ACTH levels were observed in the early postoperative period and the patient is still in remission 18 months after surgery, thus demonstrating that the resected lesion was entirely responsible for the clinical picture. Histological and immunocytochemical analyses demonstrated a benign tumour composed of mature neuronal cells suggestive of a gangliocytoma, expressing both ACTH and corticotropin-releasing hormone (CRH). The tumour was surrounded by a rim of pituitary tissue containing ACTH-producing endocrine cells. Careful analysis of the resected lesion did not reveal any pituitary microadenoma. We search literature for similar cases and retraced only nine cases of gangliocytomas associated with Cushing's syndrome. In most of them, the tumour was combined with either pituitary corticotroph adenoma or hyperplasia. Our case represents a unique case of an infrasellar pituitary gangliocytoma which was able to cause Cushing's syndrome by both direct ACTH production and CRH-induced stimulation of neighbour normal corticotroph cells.

  9. Posttransplantation lymphoproliferative disease involving the pituitary gland.

    Science.gov (United States)

    Meriden, Zina; Bullock, Grant C; Bagg, Adam; Bonatti, Hugo; Cousar, John B; Lopes, M Beatriz; Robbins, Mark K; Cathro, Helen P

    2010-11-01

    Posttransplantation lymphoproliferative disorders (PTLD) are heterogeneous lesions with variable morphology, immunophenotype, and molecular characteristics. Multiple distinct primary lesions can occur in PTLD, rarely with both B-cell and T-cell characteristics. Lesions can involve both grafted organs and other sites; however, PTLD involving the pituitary gland has not been previously reported. We describe a patient who developed Epstein-Barr virus-negative PTLD 13 years posttransplantation involving the terminal ileum and pituitary, which was simultaneously involved by a pituitary adenoma. Immunohistochemistry of the pituitary lesion showed expression of CD79a, CD3, and CD7 with clonal rearrangements of both T-cell receptor gamma chain (TRG@) and immunoglobulin heavy chain (IGH@) genes. The terminal ileal lesion was immunophenotypically and molecularly distinct. This is the first report of pituitary PTLD and illustrates the potentially complex nature of PTLD. Copyright © 2010 Elsevier Inc. All rights reserved.

  10. Magnetic resonance imaging of pituitary adenomas

    Energy Technology Data Exchange (ETDEWEB)

    Bonneville, Jean-Francois; Bonneville, Fabrice; Cattin, Francoise [University Hospital, Department of Neuroradiology, Besancon (France)

    2005-03-01

    Today, MR is the only method needed for the morphological investigation of endocrine-active pituitary adenomas. In acromegaly and Cushing's syndrome, the therapeutic attitude is directly dictated by MR data. We present the MR aspect of pituitary adenomas according to size, sex, age, endocrine activity and a few particular conditions such as hemorrhagic pituitary adenomas, pituitary adenomas during pregnancy, cavernous sinus invasion and postsurgical changes. When an intrasellar mass extending out of the sella turcica is detected, the goal of the MR examination is to indicate precisely the origin of the tumor, its extension in relation to the various surrounding structures, its structure and its enhancement in order to help in the differential diagnosis. Demonstration of very small pituitary adenomas remains a challenge. When SE T1- and Turbo SE T2-weighted sequences are non-diagnostic, enhanced imaging becomes mandatory; half-dose gadolinium injection, delayed sequence, dynamic imaging can be of some help. (orig.)

  11. Dynamic MR imaging of pituitary adenoma

    International Nuclear Information System (INIS)

    Miki, Yukio; Nishizawa, Sadahiko; Kuroda, Yasumasa; Keyaki, Atsushi; Nabeshima, Sachio; Kawamura, Junichiro; Matsuo, Michimasa

    1990-01-01

    The authors performed serial dynamic MR imaging in patients with 10 normal pituitary and 21 pituitary adenoma utilizing spin-echo sequence with a very short repetition time (SE 100/15) every minute immediately after a bolus injection of Gd-DTPA. Usual T 1 -weighted images (SE 600/15) were also obtained before and after the dynamic study. Pituitary adenomas included 10 adenomas confirmed by surgery, 4 adenomas confirmed by biologic data, and 7 postoperative adenomas. Out of 10 patients who underwent surgery after dynamic MRI, 9 patients underwent postoperative dynamic MRI. In normal patients, the pituitary gland was markedly enhanced on the early-phase images of the dynamic study, followed by gradual decrease of intensity throughout the dynamic study. In cases of microadenomas, the contrast between the normal pituitary gland and adenoma is better than that on the usual T 1 -weighted images by marked enhancement of the normal pituitary gland. Dynamic images clearly showed the residual normal pituitary glands in all cases of macroadenoma larger than 15 mm in diameter, whereas usual contrast-enhanced images showed the normal pituitary gland only in one case. In all patients who underwent both preoperative and postoperative dynamic MRI, postoperative dynamic MRI showed the normal pituitary glands which are markedly enhanced on the early-phase images in the sites which correspond to the preoperative dynamic study. The normal residual anterior gland was also visualized in four out of 7 patients who received only postoperative dynamic MRI. Dynamic MRI is a strong diagnostic modality for visualizing microadenoma and for visualizing the normal pituitary gland in cases of preoperative and postoperative macroadenoma. (author)

  12. Pituitary hyperplasia secondary to hypothyroidism in an adolescent

    International Nuclear Information System (INIS)

    Capiel, Carlos A. h; Bouzas, Carlos A.; Mondino, Ana

    2003-01-01

    We report a case of a 14 years old patient with growth arrest and laboratory evidence of hypothyroidism. MR revealed pituitary enlargement simulating macro adenoma. Thyroid replacement therapy resulted in regression of the pituitary size. Awareness of MR appearance of pituitary hyperplasia in children and juvenile patients with laboratory evidence of hypothyroidism might avoid misdiagnosis for pituitary tumor. (author)

  13. Pituitary magnetic resonance imaging experience in Jordan

    International Nuclear Information System (INIS)

    Hadidy, Azmy M.; Jallad, Dana G.; Haroun, Azmi A.; Mahafza, Waleed S.; Ajlouni, Kamel M.

    2009-01-01

    To assess the pituitary findings as demonstrated on MRI and to compare the results with the data published in the literature. One thousand, one hundred and thirty-eight pituitary MRIs with and without intravenous contrast media (gadolinium) were performed over 6 years from 2001 to 2007 in the Department of Diagnostic Radiology, Jordan University Hospital, Amman, Jordan. The patients were referred from various departments and were evaluated for pituitary, other sellar, and juxtasellar abnormalities. The results were compared with those in the published literature. Four hundred and eight-three normal scans were excluded from the study. The remaining 655 were abnormal, pituitary adenoma was detected in 327 (49.9%), microadenoma was present in 213 (32.5%), and macroadenoma in 114 (17.4%). Partial empty sella was seen in 157 (24%), diffuse pituitary gland enlargement in 98 (14.9%), ectopic pituitary posterior lobe in 13 (2%), and other findings in 31 (4.7%). The incidence of pituitary adenoma was equal in both genders; however, microadenoma was more common, affected a younger age group, and was predominately seen in females. The other parameters showed agreement with the published literature. (author)

  14. Hypopituitarism following pituitary irradiation for acromegaly

    Energy Technology Data Exchange (ETDEWEB)

    Aloia, J.F.; Archambeau, J.O.

    1978-01-01

    Endocrine evaluation is reported in 8 acromegalic patients who received 5500 rad to the pituitary from a linear accelerator. There was a mean decrease in hGH levels of 72%. Plasma testosterone levels were low in 1 of the 6 male patients prior to pituitary irradiation and were below normal in all male patients on the final evaluation (3.1 +- 0.2 SD years postirradiation). Deficiency of TSH secretion developed in 2 patients following irradiation. This rather high incidence of postirradiation partial hypopituitarism was not anticipated and is thought to be related to radiation necrosis of the normal pituitary tissue which surrounds the adenoma.

  15. Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.

    Science.gov (United States)

    Barraza-García, Jimena; Iván Rivera-Pedroza, Carlos; Salamanca, Luis; Belinchón, Alberta; López-González, Vanesa; Sentchordi-Montané, Lucía; del Pozo, Ángela; Santos-Simarro, Fernando; Campos-Barros, Ángel; Lapunzina, Pablo; Guillén-Navarro, Encarna; González-Casado, Isabel; García-Miñaur, Sixto; Heath, Karen E

    2016-01-01

    Primordial dwarfism encompasses rare conditions characterized by severe intrauterine growth retardation and growth deficiency throughout life. Recently, three POC1A mutations have been reported in six families with the primordial dwarfism, SOFT syndrome (Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis). Using a custom-designed Next-generation sequencing skeletal dysplasia panel, we have identified two novel homozygous POC1A mutations in two individuals with primordial dwarfism. The severe growth retardation and the facial profiles are strikingly similar between our patients and those described previously. However, one of our patients was diagnosed with severe foramen magnum stenosis and subglottic tracheal stenosis, malformations not previously associated with this syndrome. Our findings confirm that POC1A mutations cause SOFT syndrome and that mutations in this gene should be considered in patients with severe pre- and postnatal short stature, symmetric shortening of long bones, triangular facies, sparse hair and short, thickened distal phalanges. © 2015 Wiley Periodicals, Inc.

  16. Subcellular localization of pituitary enzymes

    Science.gov (United States)

    Smith, R. E.

    1970-01-01

    A cytochemical procedure is reported for identifying subcellular sites of enzymes hydrolyzing beta-naphthylamine substrates, and to study the sites of reaction product localization in cells of various tissues. Investigations using the substrate Leu 4-methoxy-8-naphthylamine, a capture with hexonium pararosaniline, and the final chelation of osmium have identified the hydrolyzing enzyme of rat liver cells; this enzyme localized on cell membranes with intense deposition in the areas of the parcanaliculi. The study of cells in the anterior pituitary of the rat showed the deposition of reaction product on cell membrane; and on the membranes of secretion granules contained within the cell. The deposition of reaction product on the cell membrane however showed no increase or decrease with changes in the physiological state of the gland and release of secretion granules from specific cells.

  17. Management of incidental pituitary tumors

    Directory of Open Access Journals (Sweden)

    Nicholas F. Marko

    2011-11-01

    Full Text Available Pituitary incidentalomas are common lesions for which neurosurgical referrals may become progressively more frequent, given the increasing application of neuroimaging. The initial evaluation of a patient with radiographic evidence of an incidentaloma should focus on addressing two questions: (1 is the lesion causing neurological symptoms, and (2 is the lesion hormonally active? The answers to these two questions provide a framework for subsequent clinical management. The initial patient assessment should include a detailed history and physical examination, including the bedside assessment of visual fields. High-quality MRI imaging is essential, and formal visual field testing should be obtained in patients where the lesion abuts or compresses the optic apparatus. The initial biochemical workup is intended to assess potential pituitary hypo- or hyperfunction and should include measurement of serum levels of prolactin, insulin-like growth factor type-1, free thyroxine, testosterone, and an assessment of axis hypothalamic–pituitary–adrenal axis function. Additional testing may include serum thyroid-stimulating hormone, follicle-stimulating hormone, and luteinizing hormone levels. Neurologically-asymptomatic patients without endocrine dysfunction can be managed with observation at regular intervals, including MRI imaging at 6 months and 1 year and then annually for a period of 3 years. Follow-up biochemical assessment is not necessary in the absence of clinical symptoms or radiographic enlargement of the lesion. After 3 years the follow-up interval may be prolonged, although closer follow-up may be indicated for patients with lesions C1 cm. Most patients who either present with or who subsequently develop neurologic or endocrinologic symptoms should be considered for surgery as the first-line therapy.

  18. Inflammatory Pseudotumor of the Pituitary Gland Mimicking a Pituitary Adenoma: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Da Mi; Yu, In Kyu [Dept. of Radiology, Eulji University Hospital, Daejeon (Korea, Republic of); Kim, Han Kyu [Dept. of Neurosurgery, Eulji University Hospital, Daejeon (Korea, Republic of); Son Hyun Jin [Dept. of Pathology, Eulji University Hospital, Daejeon (Korea, Republic of)

    2011-04-15

    A 38-year-old man was admitted to our hospital with diplopia. The patient had a relatively well-defined pituitary mass with high cellularity as well as weaker enhancement on imaging modalities including computed tomography (CT) and magnetic resonance imaging (MRI), than a typical pituitary adenoma. The distinction between a pseudotumor and an invasive neoplasm is very difficult before biopsy. In this case report, we discuss the characteristic imaging features of a fibrosing inflammatory pseudotumor of the pituitary gland

  19. Dosimetric factors associated with pituitary function after Gamma Knife Surgery (GKS) of pituitary adenomas.

    Science.gov (United States)

    Sicignano, Gianluisa; Losa, Marco; del Vecchio, Antonella; Cattaneo, Giovanni Mauro; Picozzi, Piero; Bolognesi, Angelo; Mortini, Pietro; Calandrino, Riccardo

    2012-07-01

    Gamma Knife Surgery (GKS) can be an adjunctive option to surgery in the case of pituitary adenomas. The effect of dosimetric variables on the incidence of new anterior pituitary deficits after GKS requires better definition. This retrospective study considered 130 patients with a follow up after GKS >6 months. The diagnosis was nonfunctioning pituitary adenoma (NFPA) in 68 patients and secreting pituitary adenoma (SPA) in 62 patients. Median margin dose was 15/25 Gy for NFPA and SPA, respectively. The endocrinological median follow-up was 60 months. Hypopituitarism was defined as a new pituitary deficit in (at least) one of the three hormonal axes (hypogonadism, hypothyroidism and hypoadrenalism). The predictive value of clinical/dosimetric parameters was tested by univariate/multivariate analyses. Sixteen patients (12.3%) showed a new pituitary deficit in one or more axes. Multivariate analysis confirmed that the mean dose to the stalk/pituitary and the amount of healthy tissue within the high dose region were strong independent predictors of pituitary dysfunction; their best cut-off values were around 15.7 Gy, 7.3 Gy and 1.4 cm(3), respectively. Our data showed a dose-dependent incidence of new hormonal deficits after GKS for pituitary adenoma. During planning definition, the risk of hypopituitarism could be reduced using the outlined safe dose-volume values. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  20. Dosimetric factors associated with pituitary function after Gamma Knife Surgery (GKS) of pituitary adenomas

    International Nuclear Information System (INIS)

    Sicignano, Gianluisa; Losa, Marco; Vecchio, Antonella del; Cattaneo, Giovanni Mauro; Picozzi, Piero; Bolognesi, Angelo; Mortini, Pietro; Calandrino, Riccardo

    2012-01-01

    Background and purpose: Gamma Knife Surgery (GKS) can be an adjunctive option to surgery in the case of pituitary adenomas. The effect of dosimetric variables on the incidence of new anterior pituitary deficits after GKS requires better definition. Materials and methods: This retrospective study considered 130 patients with a follow up after GKS >6 months. The diagnosis was nonfunctioning pituitary adenoma (NFPA) in 68 patients and secreting pituitary adenoma (SPA) in 62 patients. Median margin dose was 15/25 Gy for NFPA and SPA, respectively. The endocrinological median follow-up was 60 months. Hypopituitarism was defined as a new pituitary deficit in (at least) one of the three hormonal axes (hypogonadism, hypothyroidism and hypoadrenalism). The predictive value of clinical/dosimetric parameters was tested by univariate/multivariate analyses. Results: Sixteen patients (12.3%) showed a new pituitary deficit in one or more axes. Multivariate analysis confirmed that the mean dose to the stalk/pituitary and the amount of healthy tissue within the high dose region were strong independent predictors of pituitary dysfunction; their best cut-off values were around 15.7 Gy, 7.3 Gy and 1.4 cm 3 , respectively. Conclusions: Our data showed a dose-dependent incidence of new hormonal deficits after GKS for pituitary adenoma. During planning definition, the risk of hypopituitarism could be reduced using the outlined safe dose–volume values.

  1. Dwarfism of blue mussels in the low saline Baltic Sea — growth to the lower salinity limit

    DEFF Research Database (Denmark)

    Riisgård, Hans Ulrik; Larsen, Poul Scheel; Turja, Raisa

    2014-01-01

    Mussels within the Baltic Mytilus edulis × M. trossulus hybrid zone have adapted to the low salinities in the Baltic Sea which, however, results in slow-growing dwarfed mussels. To get a better understanding of the nature of dwarfism, we studied the ability of M. trossulus to feed and grow at low...... to become negative below 4.5 psu. We suggest that reduced ability to produce shell material at extremely low salinity may explain dwarfism of mussels in the Baltic Sea. Reduced bio-calcification at low salinity, however, may impede shell growth, but not somatic growth, and this may at first result...

  2. Genetics Home Reference: familial isolated pituitary adenoma

    Science.gov (United States)

    ... children or adolescents can lead to increased height (gigantism), because the long bones of their arms and ... Information & Resources MedlinePlus (6 links) Encyclopedia: Acromegaly Encyclopedia: Gigantism Encyclopedia: Pituitary Tumor Encyclopedia: Prolactinoma Health Topic: Endocrine ...

  3. Pituitary adenylate cyclase activating polypeptide and migraine

    DEFF Research Database (Denmark)

    Zagami, Alessandro S; Edvinsson, Lars; Goadsby, Peter J

    2014-01-01

    Pituitary adenylate cyclase activating peptide (PACAP) is found in human trigeminocervical complex and can trigger migraine. PACAP levels were measured using a sensitive radioimmunoassay. Stimulation of the superior sagittal sinus (SSS) in cat elevated PACAP levels in cranial blood. Patients...

  4. Pituitary macroadenomas: reviews of 60 cases

    International Nuclear Information System (INIS)

    Santos, Alair Augusto S.M.D. dos; Fontes, Cristina Asvolinsque P.; Magnago, Marcelo; Moreira, Denise Madeira; Andreiuolo, Pedro Angelo; Oliveira, Fernando Barros de; Teixeira, Ricardo Tostes D.; Correa, Saul Orlando C.

    2000-01-01

    We reviewed 60 cases of patients with pituitary macroadenomas who were submitted to magnetic resonance imaging evaluations at private institutions in Niteroi and Rio de Janeiro, Brazil. The aim of this study was to demonstrate the advantages of magnetic resonance imaging in the diagnosis and follow-up of these patients. Macroprolactinomas were the most prevalent tumors. We also observed four growth-hormone (GH) secreting macroadenomas with clinical signs of acromegaly, and one GH- and prolactin-secreting macroadenoma. Seven patients presented pituitary apoplexy and hyperintense signal on T1-W images before contrast medium (gadolinium) administration suggestive of intratumoral bleeding. The follow-up of 15 cases demonstrated a reduction in the size of the tumor after surgery, clinical treatment or radiotherapy. Magnetic resonance imaging is important for the study of pituitary macroadenomas, particularly before surgery, as it shows the involvement of adjacent structures, specially the cavernous sinus, optic chiasm and pituitary stalk compression. (author)

  5. Complete genome sequence of a new enamovirus from Argentina infecting alfalfa plants showing dwarfism symptoms.

    Science.gov (United States)

    Bejerman, Nicolás; Giolitti, Fabián; Trucco, Verónica; de Breuil, Soledad; Dietzgen, Ralf G; Lenardon, Sergio

    2016-07-01

    Alfalfa dwarf disease, probably caused by synergistic interactions of mixed virus infections, is a major and emergent disease that threatens alfalfa production in Argentina. Deep sequencing of diseased alfalfa plant samples from the central region of Argentina resulted in the identification of a new virus genome resembling enamoviruses in sequence and genome structure. Phylogenetic analysis suggests that it is a new member of the genus Enamovirus, family Luteoviridae. The virus is tentatively named "alfalfa enamovirus 1" (AEV-1). The availability of the AEV-1 genome sequence will make it possible to assess the genetic variability of this virus and to construct an infectious clone to investigate its role in alfalfa dwarfism disease.

  6. Radiolabelled spiroperidol: Possible pituitary adenoma imaging agent

    International Nuclear Information System (INIS)

    Otto, C.A.; Marshall, J.C.; Lloyd, R.V.; Sherman, P.S.; Wieland, D.M.

    1984-01-01

    Prolactin-secreting pituitary adenomas are the most common type of pituitary tumors. Detection currently depends on physical symptoms, elevated serum prolactin levels and CT scans. An imaging agent which specifically localized in prolactinomas based on some functional characteristic of the tumor would be of considerable clinical value not only for early detection but also for monitoring of therapy. Tritiated spiroperidol ( 3 H-Sp) was selected for evaluation based on 1) the presence of D-2 receptors in normal anterior pituitary and adenoma tissue and 2) the high affinity of spiroperidol for D-2 receptors. Recent data have established that implantation of diethylstilbestrol (DES) in Fischer F344 rats induced prolactin-secreting tumors in the pituitary. 3 HSp was evaluated in pituitary tissue of both control and DES-treated rats. 3 HSp concentration in normal female anterior pituitary tissue was found to be about 0.27% kg dose/g from 5 min to 4hrs. This value was about 10 times levels in cortex, cerebellum and striatum. In DES-treated rats the % kg dose/g values remained approximately the same. A 5-fold increase in serum prolactin was associated with a 6-fold increase in both pituitary weight and % dose/organ. The data suggests that although total pituitary weight has increased due to tumor growth (reflected in increased values for % dose/organ), the relative number of receptors per g of tissue has remained constant. This result is in agreement with observations of others on D-2 receptor concentration in prolactinomas

  7. MR imaging exploration of the pituitary region

    International Nuclear Information System (INIS)

    Braun, M.; Roland, J.; Moret, C.; Picard, L.

    1992-01-01

    MR Imaging has become the procedure of choice for the exploration of the pituitary region. MR contrast resolution is far better than the finest CT examination, especially concerning the microadenomas and the neurohypophysis. The present paper concerns, at first the major principles of magnetic resonance imaging, its application for the study of the pituitary region including the use of contrast agent (Gadolinium). Lastly, MR anatomy and physiological variations are presented

  8. Identification of metastases in the pituitary stalk

    Energy Technology Data Exchange (ETDEWEB)

    Schubiger, O

    1982-09-01

    Two cases of metastasis in the pituitary stalk are presented. In both cases, presenting with diabetes insipidus, the demonstration of a small (under 1 cm) metastasis in the pituitary stalk was possible using a current generation scanner. Patients with known primary tumors presenting with a diabetes insipidus should be examined by CT before therapy with antidiuretic hormone is initiated. In cases of visible metastasis, a specific therapy together with the hormone-substitution should be discussed.

  9. The various MRI patterns of pituitary apoplexy

    International Nuclear Information System (INIS)

    Piotin, M.; Tampieri, D.; Garant, M.; Melanson, D.; Ruefenacht, D.A.; Delavelle, J.; Mohr, G.; Del Carpio, R.; Robert, F.

    1999-01-01

    The aim of this study was to describe the various MRI features, in correlation to surgical and pathological findings, in patients who presented with pituitary apoplexy (PA). Eleven patients presenting with PA, were evaluated with various MR protocols including spin-echo (SE) T1-weighted sequences in 9 of 11 patients, post gadolinium SE T1-weighted sequences in only 8 of 11 patients, and with T2-weighted SE sequences in 2 of 11 patients. All patients had transsphenoidal pituitary surgery after MR studies. The severity of presenting symptoms ranged from headaches to coma. Ten patients had pituitary macroadenoma; one had a non-hemorrhagic metastatic lesion into a non-adenomatous pituitary gland. Of the 11 patients, one was studied at the acute stage of PA (1 day after onset), 9 at the subacute period (3-15 days after onset), and one at the late stage (5 months after onset). Images compatible with intratumoral hemorrhage were found in all macroadenomas, whereas the metastatic pituitary lesion did not show evidence of bleeding. All gadolinium-enhanced studies showed partial tumoral enhancement. The SE T2-weighted studies demonstrated areas of low and high signal intensities in keeping with the presence of blood degradation contents. Pituitary apoplexy present with different MR features, including hemorrhagic and non-hemorrhagic characteristics on T1-weighted images. Gadolinium-enhanced images do not provide complementary diagnostic information when the presence of blood is assessed on plain images. (orig.)

  10. A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism.

    Directory of Open Access Journals (Sweden)

    Mirjam Frischknecht

    Full Text Available We describe a mild form of disproportionate dwarfism in Labrador Retrievers, which is not associated with any obvious health problems such as secondary arthrosis. We designate this phenotype as skeletal dysplasia 2 (SD2. It is inherited as a monogenic autosomal recessive trait with incomplete penetrance primarily in working lines of the Labrador Retriever breed. Using 23 cases and 37 controls we mapped the causative mutation by genome-wide association and homozygosity mapping to a 4.44 Mb interval on chromosome 12. We re-sequenced the genome of one affected dog at 30x coverage and detected 92 non-synonymous variants in the critical interval. Only two of these variants, located in the lymphotoxin A (LTA and collagen alpha-2(XI chain gene (COL11A2, respectively, were perfectly associated with the trait. Previously described COL11A2 variants in humans or mice lead to skeletal dysplasias and/or deafness. The dog variant associated with disproportionate dwarfism, COL11A2:c.143G>C or p.R48P, probably has only a minor effect on collagen XI function, which might explain the comparatively mild phenotype seen in our study. The identification of this candidate causative mutation thus widens the known phenotypic spectrum of COL11A2 mutations. We speculate that non-pathogenic COL11A2 variants might even contribute to the heritable variation in height.

  11. Phylogeographic and population genetic analyses reveal multiple species of Boa and independent origins of insular dwarfism.

    Science.gov (United States)

    Card, Daren C; Schield, Drew R; Adams, Richard H; Corbin, Andrew B; Perry, Blair W; Andrew, Audra L; Pasquesi, Giulia I M; Smith, Eric N; Jezkova, Tereza; Boback, Scott M; Booth, Warren; Castoe, Todd A

    2016-09-01

    Boa is a Neotropical genus of snakes historically recognized as monotypic despite its expansive distribution. The distinct morphological traits and color patterns exhibited by these snakes, together with the wide diversity of ecosystems they inhabit, collectively suggest that the genus may represent multiple species. Morphological variation within Boa also includes instances of dwarfism observed in multiple offshore island populations. Despite this substantial diversity, the systematics of the genus Boa has received little attention until very recently. In this study we examined the genetic structure and phylogenetic relationships of Boa populations using mitochondrial sequences and genome-wide SNP data obtained from RADseq. We analyzed these data at multiple geographic scales using a combination of phylogenetic inference (including coalescent-based species delimitation) and population genetic analyses. We identified extensive population structure across the range of the genus Boa and multiple lines of evidence for three widely-distributed clades roughly corresponding with the three primary land masses of the Western Hemisphere. We also find both mitochondrial and nuclear support for independent origins and parallel evolution of dwarfism on offshore island clusters in Belize and Cayos Cochinos Menor, Honduras. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Dwarfism and early death in mice lacking C-type natriuretic peptide

    Science.gov (United States)

    Chusho, Hideki; Tamura, Naohisa; Ogawa, Yoshihiro; Yasoda, Akihiro; Suda, Michio; Miyazawa, Takashi; Nakamura, Kenji; Nakao, Kazuki; Kurihara, Tatsuya; Komatsu, Yasato; Itoh, Hiroshi; Tanaka, Kiyoshi; Saito, Yoshihiko; Katsuki, Motoya; Nakao, Kazuwa

    2001-01-01

    Longitudinal bone growth is determined by endochondral ossification that occurs as chondrocytes in the cartilaginous growth plate undergo proliferation, hypertrophy, cell death, and osteoblastic replacement. The natriuretic peptide family consists of three structurally related endogenous ligands, atrial, brain, and C-type natriuretic peptides (ANP, BNP, and CNP), and is thought to be involved in a variety of homeostatic processes. To investigate the physiological significance of CNP in vivo, we generated mice with targeted disruption of CNP (Nppc−/− mice). The Nppc−/− mice show severe dwarfism as a result of impaired endochondral ossification. They are all viable perinatally, but less than half can survive during postnatal development. The skeletal phenotypes are histologically similar to those seen in patients with achondroplasia, the most common genetic form of human dwarfism. Targeted expression of CNP in the growth plate chondrocytes can rescue the skeletal defect of Nppc−/− mice and allow their prolonged survival. This study demonstrates that CNP acts locally as a positive regulator of endochondral ossification in vivo and suggests its pathophysiological and therapeutic implication in some forms of skeletal dysplasia. PMID:11259675

  13. Increased intracellular proteolysis reduces disease severity in an ER stress-associated dwarfism.

    Science.gov (United States)

    Mullan, Lorna A; Mularczyk, Ewa J; Kung, Louise H; Forouhan, Mitra; Wragg, Jordan Ma; Goodacre, Royston; Bateman, John F; Swanton, Eileithyia; Briggs, Michael D; Boot-Handford, Raymond P

    2017-10-02

    The short-limbed dwarfism metaphyseal chondrodysplasia type Schmid (MCDS) is linked to mutations in type X collagen, which increase ER stress by inducing misfolding of the mutant protein and subsequently disrupting hypertrophic chondrocyte differentiation. Here, we show that carbamazepine (CBZ), an autophagy-stimulating drug that is clinically approved for the treatment of seizures and bipolar disease, reduced the ER stress induced by 4 different MCDS-causing mutant forms of collagen X in human cell culture. Depending on the nature of the mutation, CBZ application stimulated proteolysis of misfolded collagen X by either autophagy or proteasomal degradation, thereby reducing intracellular accumulation of mutant collagen. In MCDS mice expressing the Col10a1.pN617K mutation, CBZ reduced the MCDS-associated expansion of the growth plate hypertrophic zone, attenuated enhanced expression of ER stress markers such as Bip and Atf4, increased bone growth, and reduced skeletal dysplasia. CBZ produced these beneficial effects by reducing the MCDS-associated abnormalities in hypertrophic chondrocyte differentiation. Stimulation of intracellular proteolysis using CBZ treatment may therefore be a clinically viable way of treating the ER stress-associated dwarfism MCDS.

  14. A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism.

    Science.gov (United States)

    Frischknecht, Mirjam; Niehof-Oellers, Helena; Jagannathan, Vidhya; Owczarek-Lipska, Marta; Drögemüller, Cord; Dietschi, Elisabeth; Dolf, Gaudenz; Tellhelm, Bernd; Lang, Johann; Tiira, Katriina; Lohi, Hannes; Leeb, Tosso

    2013-01-01

    We describe a mild form of disproportionate dwarfism in Labrador Retrievers, which is not associated with any obvious health problems such as secondary arthrosis. We designate this phenotype as skeletal dysplasia 2 (SD2). It is inherited as a monogenic autosomal recessive trait with incomplete penetrance primarily in working lines of the Labrador Retriever breed. Using 23 cases and 37 controls we mapped the causative mutation by genome-wide association and homozygosity mapping to a 4.44 Mb interval on chromosome 12. We re-sequenced the genome of one affected dog at 30x coverage and detected 92 non-synonymous variants in the critical interval. Only two of these variants, located in the lymphotoxin A (LTA) and collagen alpha-2(XI) chain gene (COL11A2), respectively, were perfectly associated with the trait. Previously described COL11A2 variants in humans or mice lead to skeletal dysplasias and/or deafness. The dog variant associated with disproportionate dwarfism, COL11A2:c.143G>C or p.R48P, probably has only a minor effect on collagen XI function, which might explain the comparatively mild phenotype seen in our study. The identification of this candidate causative mutation thus widens the known phenotypic spectrum of COL11A2 mutations. We speculate that non-pathogenic COL11A2 variants might even contribute to the heritable variation in height.

  15. Laron Dwarfism and Non-Insulin-Dependent Diabetes Mellitus in the Hnf-1α Knockout Mouse

    Science.gov (United States)

    Lee, Ying-Hue; Sauer, Brian; Gonzalez, Frank J.

    1998-01-01

    Mice deficient in hepatocyte nuclear factor 1 alpha (HNF-1α) were produced by use of the Cre-loxP recombination system. HNF-1α-null mice are viable but sterile and exhibit a phenotype reminiscent of both Laron-type dwarfism and non-insulin-dependent diabetes mellitus (NIDDM). In contrast to an earlier HNF-1α-null mouse line that had been produced by use of standard gene disruption methodology (M. Pontoglio, J. Barra, M. Hadchouel, A. Doyen, C. Kress, J. P. Bach, C. Babinet, and M. Yaniv, Cell 84:575–585, 1996), these mice exhibited no increased mortality and only minimal renal dysfunction during the first 6 months of development. Both dwarfism and NIDDM are most likely due to the loss of expression of insulin-like growth factor I (IGF-I) and lower levels of insulin, resulting in stunted growth and elevated serum glucose levels, respectively. These results confirm the functional significance of the HNF-1α regulatory elements that had previously been shown to reside in the promoter regions of both the IGF-I and the insulin genes. PMID:9566924

  16. Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.

    Science.gov (United States)

    Reynolds, John J; Bicknell, Louise S; Carroll, Paula; Higgs, Martin R; Shaheen, Ranad; Murray, Jennie E; Papadopoulos, Dimitrios K; Leitch, Andrea; Murina, Olga; Tarnauskaitė, Žygimantė; Wessel, Sarah R; Zlatanou, Anastasia; Vernet, Audrey; von Kriegsheim, Alex; Mottram, Rachel M A; Logan, Clare V; Bye, Hannah; Li, Yun; Brean, Alexander; Maddirevula, Sateesh; Challis, Rachel C; Skouloudaki, Kassiani; Almoisheer, Agaadir; Alsaif, Hessa S; Amar, Ariella; Prescott, Natalie J; Bober, Michael B; Duker, Angela; Faqeih, Eissa; Seidahmed, Mohammed Zain; Al Tala, Saeed; Alswaid, Abdulrahman; Ahmed, Saleem; Al-Aama, Jumana Yousuf; Altmüller, Janine; Al Balwi, Mohammed; Brady, Angela F; Chessa, Luciana; Cox, Helen; Fischetto, Rita; Heller, Raoul; Henderson, Bertram D; Hobson, Emma; Nürnberg, Peter; Percin, E Ferda; Peron, Angela; Spaccini, Luigina; Quigley, Alan J; Thakur, Seema; Wise, Carol A; Yoon, Grace; Alnemer, Maha; Tomancak, Pavel; Yigit, Gökhan; Taylor, A Malcolm R; Reijns, Martin A M; Simpson, Michael A; Cortez, David; Alkuraya, Fowzan S; Mathew, Christopher G; Jackson, Andrew P; Stewart, Grant S

    2017-04-01

    To ensure efficient genome duplication, cells have evolved numerous factors that promote unperturbed DNA replication and protect, repair and restart damaged forks. Here we identify downstream neighbor of SON (DONSON) as a novel fork protection factor and report biallelic DONSON mutations in 29 individuals with microcephalic dwarfism. We demonstrate that DONSON is a replisome component that stabilizes forks during genome replication. Loss of DONSON leads to severe replication-associated DNA damage arising from nucleolytic cleavage of stalled replication forks. Furthermore, ATM- and Rad3-related (ATR)-dependent signaling in response to replication stress is impaired in DONSON-deficient cells, resulting in decreased checkpoint activity and the potentiation of chromosomal instability. Hypomorphic mutations in DONSON substantially reduce DONSON protein levels and impair fork stability in cells from patients, consistent with defective DNA replication underlying the disease phenotype. In summary, we have identified mutations in DONSON as a common cause of microcephalic dwarfism and established DONSON as a critical replication fork protein required for mammalian DNA replication and genome stability.

  17. Majewski osteodysplastic primordial dwarfism type II: clinical findings and dental management of a child patient.

    Science.gov (United States)

    Terlemez, Arslan; Altunsoy, Mustafa; Celebi, Hakki

    2015-01-01

    Majewski osteodysplastic primordial dwarfism type II (MOPD II) is an unusual autosomal recessive inherited form of primordial dwarfism, which is characterized by a small head diameter at birth, but which also progresses to severe microcephaly, progressive bony dysplasia, and characteristic facies and personality. This report presents a case of a five-year-old girl with MOPD II syndrome. The patient was referred to our clinic with the complaint of severe tooth pain at the left mandibular primary molar teeth. Clinical examination revealed that most of the primary teeth had been decayed and all primary teeth were hypoplastic. Patient's history revealed delayed development in the primary dentition and radiographic examination showed rootless primary molar teeth and short-rooted incisors. The treatment was not possible due to the lack of root of the left mandibular primary molars; so the teeth were extracted. Thorough and timely dental evaluation is crucial for the prevention of dental problems and the maintenance of oral health in patients with MOPD II syndrome is of utmost importance.

  18. Involvement of Auxin and Brassinosteroid in Dwarfism of Autotetraploid Apple (Malus × domestica).

    Science.gov (United States)

    Ma, Yue; Xue, Hao; Zhang, Lei; Zhang, Feng; Ou, Chunqing; Wang, Feng; Zhang, Zhihong

    2016-05-24

    The plant height is an important trait in fruit tree. However, the molecular mechanism on dwarfism is still poorly understood. We found that colchicine-induced autotetraploid apple plants (Malus × domestica) exhibited a dwarf phenotype. The vertical length of cortical parenchyma cells was shorter in autotetraploids than in diploids, by observing paraffin sections. Hormone levels of indoleacetic acid (IAA) and brassinosteroid (BR) were significantly decreased in 3- and 5-year-old autotetraploid plants. Digital gene expression (DGE) analysis showed that the differentially expressed genes were mainly involved in IAA and BR pathways. microRNA390 was significantly upregulated according to microarray analysis. Exogenous application of IAA and BR promoted stem elongation of both apple plants grown in medium. The results show that dwarfing in autotetraploid apple plants is most likely regulated by IAA and BR. The dwarf phenotype of autotetraploid apple plants could be due to accumulation of miR390 after genome doubling, leading to upregulation of apple trans-acting short-interfering RNA 3 (MdTAS3) expression, which in turn downregulates the expression of MdARF3. Overall, this leads to partial interruption of the IAA and BR signal transduction pathway. Our study provides important insights into the molecular mechanisms underlying dwarfism in autopolyploid apple plants.

  19. Osteological evidence of short-limbed dwarfism in a nineteenth century Dutch family: Achondroplasia or hypochondroplasia.

    Science.gov (United States)

    Waters-Rist, Andrea L; Hoogland, Menno L P

    2013-12-01

    An opportunity to explore osteological features of a form of disproportionate dwarfism is presented by a recent archaeological discovery. Excavation of a predominately nineteenth century Dutch cemetery from the rural, agricultural village of Middenbeemster revealed an older adult female with skeletal changes consistent with achondroplasia. The most marked features are a rhizomelic pattern of shortened and thickened upper and lower limbs, frontal bossing and a moderately depressed nasal bridge, small lumbar neural canals with short pedicles, bowing of the femora and tibiae, and short stature (130.0±5cm). However, some common features of achondroplasia like cranial base reduction and shortened fingers and toes are absent. The alternative diagnosis of a more mild form of short-limbed dwarfism, hypochondroplasia, is explored and aided by archival identification of the individual and her offspring. Five offspring, including three perinates, a 10-year-old daughter, and a 21-year-old son, are analysed for evidence of an inherited skeletal dysplasia. The unique addition of family history to the paleopathological diagnostic process supports a differential outcome of hypochondroplasia. This combination of osteological and archival data creates a unique opportunity to track the inheritance and manifestation of a rare disease in a past population. Copyright © 2013 Elsevier Inc. All rights reserved.

  20. MAJEWSKI OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II: CLINICAL FINDINGS AND DENTAL MANAGEMENT OF A CHILD PATIENT

    Directory of Open Access Journals (Sweden)

    Arslan Terlemez

    2015-01-01

    Full Text Available Majewski osteodysplastic primordial dwarfism type II (MOPD II is an unusual autosomal recessive inherited form of primordial dwarfism, which is characterized by a small head diameter at birth, but which also progresses to severe microcephaly, progressive bony dysplasia, and characteristic facies and personality. This report presents a case of a five-year-old girl with MOPD II syndrome. The patient was referred to our clinic with the complaint of severe tooth pain at the left mandibular primary molar teeth. Clinical examination revealed that most of the primary teeth had been decayed and all primary teeth were hypoplastic. Patient’s history revealed delayed development in the primary dentition and radiographic examination showed rootless primary molar teeth and short-rooted incisors. The treatment was not possible due to the lack of root of the left mandibular primary molars; so the teeth were extracted. Thorough and timely dental evaluation is crucial for the prevention of dental problems and the maintenance of oral health in patients with MOPD II syndrome is of utmost importance.

  1. Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7

    NARCIS (Netherlands)

    Leegwater, Peter A|info:eu-repo/dai/nl/074236539; Vos-Loohuis, Manon; Ducro, Bart J; Boegheim, Iris J; van Steenbeek, Frank G|info:eu-repo/dai/nl/314417958; Nijman, Isaac J; Monroe, Glen R; Bastiaansen, John W M; Dibbits, Bert W; van de Goor, Leanne H; Hellinga, Ids; Back, Willem|info:eu-repo/dai/nl/125023707; Schurink, Anouk

    2016-01-01

    BACKGROUND: Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back appear normal. A striking feature of the condition

  2. Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7

    NARCIS (Netherlands)

    Leegwater, Peter A.; Vos-Loohuis, Manon; Ducro, Bart J.; Boegheim, Iris J.; Bastiaansen, John W.M.; Dibbits, Bert W.; Schurink, Anouk

    2016-01-01

    Background: Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back appear normal. A striking feature of the

  3. Thyroid-stimulating hormone pituitary adenomas.

    Science.gov (United States)

    Clarke, Michelle J; Erickson, Dana; Castro, M Regina; Atkinson, John L D

    2008-07-01

    Thyroid-stimulating hormone (TSH)-secreting pituitary adenomas are rare, representing secreting or clinically silent TSH-immunostaining pituitary tumors among all pituitary adenomas followed at their institution between 1987 and 2003. Patient records, including clinical, imaging, and pathological and surgical characteristics were reviewed. Twenty-one patients (6 women and 15 men; mean age 46 years, range 26-73 years) were identified. Of these, 10 patients had a history of clinical hyperthyroidism, of whom 7 had undergone ablative thyroid procedures (thyroid surgery/(131)I ablation) prior to the diagnosis of pituitary adenoma. Ten patients had elevated TSH preoperatively. Seven patients presented with headache, and 8 presented with visual field defects. All patients underwent imaging, of which 19 were available for imaging review. Sixteen patients had macroadenomas. Of the 21 patients, 18 underwent transsphenoidal surgery at the authors' institution, 2 patients underwent transsphenoidal surgery at another facility, and 1 was treated medically. Patients with TSH-secreting tumors were defined as in remission after surgery if they had no residual adenoma on imaging and had biochemical evidence of hypo-or euthyroidism. Patients with TSH-immunostaining tumors were considered in remission if they had no residual tumor. Of these 18 patients, 9 (50%) were in remission following surgery. Seven patients had residual tumor; 2 of these patients underwent further transsphenoidal resection, 1 underwent a craniotomy, and 4 underwent postoperative radiation therapy (2 conventional radiation therapy, 1 Gamma Knife surgery, and 1 had both types of radiation treatment). Two patients had persistently elevated TSH levels despite the lack of evidence of residual tumor. On pathological analysis and immunostaining of the surgical specimen, 17 patients had samples that stained positively for TSH, 8 for alpha-subunit, 10 for growth hormone, 7 for prolactin, 2 for adrenocorticotrophic hormone

  4. Mortality in patients with pituitary disease.

    LENUS (Irish Health Repository)

    Sherlock, Mark

    2010-06-01

    Pituitary disease is associated with increased mortality predominantly due to vascular disease. Control of cortisol secretion and GH hypersecretion (and cardiovascular risk factor reduction) is key in the reduction of mortality in patients with Cushing\\'s disease and acromegaly, retrospectively. For patients with acromegaly, the role of IGF-I is less clear-cut. Confounding pituitary hormone deficiencies such as gonadotropins and particularly ACTH deficiency (with higher doses of hydrocortisone replacement) may have a detrimental effect on outcome in patients with pituitary disease. Pituitary radiotherapy is a further factor that has been associated with increased mortality (particularly cerebrovascular). Although standardized mortality ratios in pituitary disease are falling due to improved treatment, mortality for many conditions are still elevated above that of the general population, and therefore further measures are needed. Craniopharyngioma patients have a particularly increased risk of mortality as a result of the tumor itself and treatment to control tumor growth; this is a key area for future research in order to optimize the outcome for these patients.

  5. Application of image guidance in pituitary surgery

    Science.gov (United States)

    de Lara, Danielle; Filho, Leo F. S. Ditzel; Prevedello, Daniel M.; Otto, Bradley A.; Carrau, Ricardo L.

    2012-01-01

    Background: Surgical treatment of pituitary pathologies has evolved along the years, adding safety and decreasing morbidity related to the procedure. Advances in the field of radiology, coupled with stereotactic technology and computer modeling, have culminated in the contemporary and widespread use of image guidance systems, as we know them today. Image guidance navigation has become a frequently used technology that provides continuous three-dimensional information for the accurate performance of neurosurgical procedures. We present a discussion about the application of image guidance in pituitary surgeries. Methods: Major indications for image guidance neuronavigation application in pituitary surgery are presented and demonstrated with illustrative cases. Limitations of this technology are also presented. Results: Patients presenting a history of previous transsphenoidal surgeries, anatomical variances of the sphenoid sinus, tumors with a close relation to the internal carotid arteries, and extrasellar tumors are the most important indications for image guidance in pituitary surgeries. The high cost of the equipment, increased time of surgery due to setup time, and registration and the need of specific training for the operating room personnel could be pointed as limitations of this technology. Conclusion: Intraoperative image guidance systems provide real-time images, increasing surgical accuracy and enabling safe, minimally invasive interventions. However, the use of intraoperative navigation is not a replacement for surgical experience and a systematic knowledge of regional anatomy. It must be recognized as a tool by which the neurosurgeon can reduce the risk associated with surgical approach and treatment of pituitary pathologies. PMID:22826819

  6. Lymphocytic hypophysitis masquerading as pituitary adenoma

    Directory of Open Access Journals (Sweden)

    Rajneesh Mittal

    2012-01-01

    Full Text Available Introduction: Pituitary hypophysitis (PH is characterized by pituitary infiltration of lymphocytes, macrophages, and plasma cells that could lead to loss of pituitary function. Hypophysitis may be autoimmune or secondary to systemic diseases or infections. Based on the histopathological findings PH is classified into lymphocytic, granulomatous, xanthomatous, mixed forms (lymphogranulomatous, xanthogranulomatous, necrotizing and Immunoglobulin- G4 (IgG4 plasmacytic types. Objective: To report a case of lymphocytic hypophysitis (LH. Case Report: A 15-year-old girl presented with history of headache, amenorrhea, and history of polyuria for past 4 months. Initial evaluation had suppressed follicular stimulating hormone (<0.01 mIU/ml, high prolactin levels (110.85 ng/ml and diabetes insipidus (DI. Magnetic resonance imaging of sella was suggestive of pituitary macroadenoma with partial compression over optic chiasma. Patient underwent surgical decompression. Yellowish firm tissue was evacuated and xanthochromic fluid was aspirated. Histopathology was suggestive of LH. She resumed her cycles postoperatively after 4 months, prolactin levels normalized, however, she continues to have DI and is on desmopressin spray. This case has been presented here for its rare presentation in an adolescent girl because it is mostly seen in young females and postpartum period and its unique presentation as an expanding pituitary mass with optic chiasma compression. Conclusion: Definitive diagnosis of LH is based on histopathological evaluation. Therapeutic approach should be based on the grade of suspicion and clinical manifestations of LH.

  7. Radiation and the hypothalamic-pituitary axis

    International Nuclear Information System (INIS)

    Littley, M.D.; Shalet, S.M.; Beardwell, C.G.

    1991-01-01

    This paper reports on radiation therapy which is an essential treatment in the management of many conditions. It is important to appreciate the high incidence of subsequent endocrine morbidity, however, if the hypothalamic pituitary region is within the radiation fields. This is very much more common with external radiation therapy than with other forms of radiation treatment. The dose and fractional of administered radiation are important determinants of the endocrine deficits, their time on onset, and severity. Irradiation of large volumes of brain and hypothalamus may increase the risk of hormonal abnormalities as may preceding surgery in the treatment of pituitary disease. The phenomena observed in children and adults illustrate that there may be damage to pituitary, hypothalamus, and higher centers. In patients who have received a significant radiation dose to the hypothalamic-pituitary region, regular follow-up is mandatory. In adults, surveillance will include pituitary function testing on an annual basis for at least 10 years. In children careful monitoring of growth and pubertal development and early treatment of radiation-induced GH deficiency are vital

  8. Radiotherapy for pituitary adenomas: an endocrinologist`s perspective

    Energy Technology Data Exchange (ETDEWEB)

    O`Halloran, D.J.; Shalet, S.M. [Christie Hospital and Holt Radium Inst., Manchester (United Kingdom)

    1996-10-01

    A brief review is given of the clinical management of patients with pituitary adenomas such as prolactinomas, adenomasin acromegoly and Leushin`s disease, and non-functioning pituitary adenomas. In particular the complications of radiotherapy are explored. (UK).

  9. Growth hormone receptor expression and function in pituitary adenomas

    DEFF Research Database (Denmark)

    Clausen, Lene R; Kristiansen, Mikkel T; Rasmussen, Lars M

    2004-01-01

    OBJECTIVE AND DESIGN: Hypopituitarism, in particular GH deficiency, is prevalent in patients with clinically nonfunctioning pituitary adenomas (NFPAs) both before and after surgery. The factors regulating the growth of pituitary adenomas in general and residual tumour tissue in particular...

  10. Polymicrobial Pituitary Abscess Predominately Involving Escherichia coli in the Setting of an Apoplectic Pituitary Prolactinoma

    Directory of Open Access Journals (Sweden)

    Norman Beatty

    2016-01-01

    Full Text Available Pituitary abscess is a rare intracranial infection that can be life-threatening if not appropriately diagnosed and treated upon presentation. The most common presenting symptoms include headache, anterior pituitary hypofunction, and visual field disturbances. Brain imaging with either computed tomography or magnetic resonance imaging usually reveals intra- or suprasellar lesion(s. Diagnosis is typically confirmed intra- or postoperatively when pathological analysis is done. Clinicians should immediately start empiric antibiotics and request a neurosurgical consult when pituitary abscess is suspected. Escherichia coli (E. coli causing intracranial infections are not well understood and are uncommon in adults. We present an interesting case of an immunocompetent male with a history of hypogonadism presenting with worsening headache and acute right eye vision loss. He was found to have a polymicrobial pituitary abscess predominantly involving E.   coli in addition to Actinomyces odontolyticus and Prevotella melaninogenica in the setting of an apoplectic pituitary prolactinoma. The definitive etiology of this infection was not determined but an odontogenic process was suspected. A chronic third molar eruption and impaction in close proximity to the pituitary gland likely led to contiguous spread of opportunistic oral microorganisms allowing for a polymicrobial pituitary abscess formation.

  11. Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency.

    Science.gov (United States)

    Pfäffle, R; Klammt, J

    2011-02-01

    The somatotropic axis is the central postnatal regulator of longitudinal growth. One of its major components--growth hormone--is produced by the anterior lobe of the pituitary, which also expresses and secretes five additional hormones (prolactin, thyroid stimulating hormone, follicle stimulating hormone, luteinizing hormone, adrenocorticotropic hormone). Proper development of the pituitary assures the regulation of critical processes such as metabolic control, puberty and reproduction, stress response and lactation. Ontogeny of the adenohypophysis is orchestrated by inputs from neighbouring tissues, cellular signalling molecules and transcription factors. Perturbation of expression or function of these factors has been implicated in the aetiology of combined pituitary hormone deficiency (CPHD). Mutations within the genes encoding for the transcription factors LHX3, LHX4, PROP1, and POU1F1 (PIT1) that act at different stages of pituitary development result in unique patterns of hormonal deficiencies reflecting their differential expression during organogenesis. In the case of LHX3 and LHX4 the phenotype may include extra-pituitary manifestations due to the function of these genes/proteins outside the pituitary gland. The remarkable variability in the clinical presentation of affected patients indicates the influence of the genetic background, environmental factors and possibly stochastic events. However, in the majority of CPHD cases the aetiology of this heterogeneous disease remains unexplained, which further suggests the involvement of additional genes. Identification of these factors might also help to close the gaps in our understanding of pituitary development, maintenance and function. Copyright © 2010 Elsevier Ltd. All rights reserved.

  12. A case of pituitary abscess presenting without a source of infection or prior pituitary pathology

    Directory of Open Access Journals (Sweden)

    Derick Adams

    2016-08-01

    Full Text Available Pituitary abscess is a relatively uncommon cause of pituitary hormone deficiencies and/or a suprasellar mass. Risk factors for pituitary abscess include prior surgery, irradiation and/or pathology of the suprasellar region as well as underlying infections. We present the case of a 22-year-old female presenting with a spontaneous pituitary abscess in the absence of risk factors described previously. Her initial presentation included headache, bitemporal hemianopia, polyuria, polydipsia and amenorrhoea. Magnetic resonance imaging (MRI of her pituitary showed a suprasellar mass. As the patient did not have any risk factors for pituitary abscess or symptoms of infection, the diagnosis was not suspected preoperatively. She underwent transsphenoidal resection and purulent material was seen intraoperatively. Culture of the surgical specimen showed two species of alpha hemolytic Streptococcus, Staphylococcus capitis and Prevotella melaninogenica. Urine and blood cultures, dental radiographs and transthoracic echocardiogram failed to show any source of infection that could have caused the pituitary abscess. The patient was treated with 6 weeks of oral metronidazole and intravenous vancomycin. After 6 weeks of transsphenoidal resection and just after completion of antibiotic therapy, her headache and bitemporal hemianopsia resolved. However, nocturia and polydipsia from central diabetes insipidus and amenorrhoea from hypogonadotrophic hypogonadism persisted.

  13. Perioperative management of patients with pituitary tumours

    Directory of Open Access Journals (Sweden)

    Mary Abraham

    2016-01-01

    Full Text Available Management of pituitary tumours can be very challenging for the anaesthesiologist. These patients require a thorough pre-operative assessment in view of underlying endocrine disturbances, which could cause anatomic and physiological disturbances. This needs to be optimized prior to surgery and the anaesthetic technique planned accordingly. The main intraoperative problems that could be encountered by the anaesthesiologist are airway problems, haemodynamic disturbances and potential for bleeding during surgery. The postoperative concerns are related to the endocrine system and fluid and water balance and this needs to be monitored closely and managed appropriately. The advent of minimally invasive surgery along with neuroimaging has considerably decreased perioperative morbidity and mortality following pituitary surgery. A team approach and close coordination between the endocrinologist, neurosurgeon and anaesthesiologist is imperative for a favourable outcome in patients undergoing pituitary surgery.

  14. Computed tomography of the pituitary gland

    International Nuclear Information System (INIS)

    Bonneville, J.F.; Cattin, F.; Dietemann, J.L.

    1986-01-01

    This book is written entirely to include the imaging of the pituitary gland by computed tomography (CT). The first three chapters illustrated technical aspects of scanning, anatomic depiction of the gland by CT, and the use of dynamic CT scanning for detecting and displaying abnormalities. The chapters discuss and illustrate various types of pathologic processes in and around the pituitary gland. One short but very helpful chapter demonstrates potential pitfalls due to the combination of anatomic variants and the geometry of CT sections. Some illustrations of disease processed are depicted by magnetic resonance imaging. All major types of pituitary diseases are illustrated. Lists of readily available English-language references are available. A small subject index is provided at the end of the book in which the illustrations are identified by use of a special numeric front

  15. MRI of pituitary adenomas in acromegaly

    International Nuclear Information System (INIS)

    Marro, B.; Zouaoui, A.; Sahel, M.; Crozat, N.; Gerber, S.; Sourour, N.; Sag, K.; Marsault, C.

    1997-01-01

    Adenomas causing acromegaly represent at least a quarter of pituitary adenomas. We studied 12 patients presenting with active acromegaly due to a pituitary adenoma with a 1.5 T superconductive MRI unit. All had T1-weighted sagittal and coronal sections before and after Gd-DTPA; six had coronal T2-weighted images. Surgical correlation was obtained in seven patients. Histologically, there were eight growth hormone (GH)-secreting and three mixed [GH and prolactin (PRL) secreting[ adenomas, and one secreting GH, PRL and follicle-stimulating hormone. Macroadenomas (10) were more frequent than microadenomas (2). No correlation was found between serum GH and tumour size. There were nine adenomas in the lateral part of the pituitary gland; seven showed lateral or infrasellar invasion. Homogeneous, isointense signal on T1-and T2-weighted images was observed in six cases. Heterogeneous adenomas had cystic or necrotic components. (orig.). With 5 figs., 3 tabs

  16. MRI of pituitary adenomas in acromegaly

    Energy Technology Data Exchange (ETDEWEB)

    Marro, B. [Service de Neuroradiologie, Batiment Babinsky, Hopital Salpetriere, 47, Bd de l`Hopital, F-75013 Paris (France); Zouaoui, A. [Service de Neuroradiologie, Batiment Babinsky, Hopital Salpetriere, 47, Bd de l`Hopital, F-75013 Paris (France); Sahel, M. [Service de Neuroradiologie, Batiment Babinsky, Hopital Salpetriere, 47, Bd de l`Hopital, F-75013 Paris (France); Crozat, N. [Service de Neuroradiologie, Batiment Babinsky, Hopital Salpetriere, 47, Bd de l`Hopital, F-75013 Paris (France); Gerber, S. [Service de Neuroradiologie, Batiment Babinsky, Hopital Salpetriere, 47, Bd de l`Hopital, F-75013 Paris (France); Sourour, N. [Service de Neuroradiologie, Batiment Babinsky, Hopital Salpetriere, 47, Bd de l`Hopital, F-75013 Paris (France); Sag, K. [Service de Neuroradiologie, Batiment Babinsky, Hopital Salpetriere, 47, Bd de l`Hopital, F-75013 Paris (France); Marsault, C. [Service de Neuroradiologie, Batiment Babinsky, Hopital Salpetriere, 47, Bd de l`Hopital, F-75013 Paris (France)

    1997-06-01

    Adenomas causing acromegaly represent at least a quarter of pituitary adenomas. We studied 12 patients presenting with active acromegaly due to a pituitary adenoma with a 1.5 T superconductive MRI unit. All had T1-weighted sagittal and coronal sections before and after Gd-DTPA; six had coronal T2-weighted images. Surgical correlation was obtained in seven patients. Histologically, there were eight growth hormone (GH)-secreting and three mixed [GH and prolactin (PRL) secreting] adenomas, and one secreting GH, PRL and follicle-stimulating hormone. Macroadenomas (10) were more frequent than microadenomas (2). No correlation was found between serum GH and tumour size. There were nine adenomas in the lateral part of the pituitary gland; seven showed lateral or infrasellar invasion. Homogeneous, isointense signal on T1- and T2-weighted images was observed in six cases. Heterogeneous adenomas had cystic or necrotic components. (orig.). With 5 figs., 3 tabs.

  17. Focused surface coil for MR imaging of the pituitary

    International Nuclear Information System (INIS)

    Harms, S.E.; Sherry, C.S.; Youshimura, L.; Lokken, R.; Hyde, J.S.

    1987-01-01

    A specially designed surface coil for pituitary MR imaging results in improved image quality over that achieved with conventional pituitary Mr imaging. The coil consists of connected planar pair coils with a variable intercoil distance to accommodate differences in head size. The sensitive field is focused deep to the surface between the two planar pairs. This arrangement optimizes the signal-to-noise ratio and allows better gradient magnification of the pituitary region. Fifteen subjects with a variety of pituitary disorders were imaged

  18. Influence of the social context on use of surgical-lengthening and group-empowering coping strategies among people with dwarfism.

    Science.gov (United States)

    Fernández, Saulo; Branscombe, Nyla R; Gómez, Angel; Morales, J Francisco

    2012-08-01

    To assess the role that social contextual factors exert on the way people with disproportionate short stature (dwarfism) cope with the negative consequences of discrimination. Using multigroup structural equation modeling, we compare the coping process of people with dwarfism from Spain (N = 63) and the USA (N = 145), two countries that differ in the role played by organizations offering support to people with dwarfism. In Spain, where organizational support is recent, a coping approach aimed at achieving integration with the majority group through limb-lengthening surgery prevails; in the USA, where the long-standing organization of people with dwarfism encourages pride in being a "little person" and positive intragroup contact, a coping strategy based on empowering the minority group dominates. Both strategies, each in its own context, are effective at protecting psychological well-being from the negative consequences of stigmatization; however, they exert their positive effects through different processes.

  19. Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)

    DEFF Research Database (Denmark)

    Krøigård, Anne Bruun; Frost, Morten; Larsen, Martin Jakob

    2016-01-01

    Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1), or Taybi-Linder syndrome is characterized by distinctive skeletal dysplasia, severe intrauterine and postnatal growth retardation, microcephaly, dysmorphic features, and neurological malformations. It is an autosomal recessive...

  20. Identification of a single nucleotide polymorphism of the pituitary ...

    African Journals Online (AJOL)

    Pit-1 is a pituitary-specific transcriptional factor that has been shown to play a critical role both in cell differentiation during organogenesis of the anterior pituitary and as a transcriptional activator for pituitary gene transcription. This study was designed to investigate the associations of Pit-1 gene polymorphism on chicken ...

  1. An acute adrenal insufficiency revealing pituitary metastases of lung ...

    African Journals Online (AJOL)

    A 69-year-old men presented with vomiting, low blood pressure and hypoglycemia. Hormonal exploration confirmed a hypopituitarism. Appropriate therapy was initiated urgently. The hypothalamic-pituitary MRI showed a pituitary hypertrophy, a nodular thickening of the pituitary stalk. The chest X Rays revealed pulmonary ...

  2. Value of pituitary MRI in children with short stat

    Directory of Open Access Journals (Sweden)

    Huan ZHOU

    2013-11-01

    Full Text Available Objective To explore the value of pituitary MRI in diagnosis of etiology and prognosis in children with short stature. Methods The MRI data of 130 children with short stature admitted from Jan. to Dec. 2012 were retrospectively analyzed. Of the 130 children, 79 were males and 51 were females, aged 3 to 18 years with mean of 9.8 years. Results Of the 130 children, 82 cases (63.1% were shown to have normal pituitary morphology and signal manifestation, and in 48 cases (36.9% pituitary morphology and signal manifestation were abnormal, and among them pituitary dysplasia was found in 30 cases, deficiency of bright signals in posterior pituitary lobe was found in 4 cases, in whom pituitary stalk deficiency was found in 2 cases. Pituitary microadenoma was found in 3 cases, and pituitary cystic lesions were found in 6 cases. Suprasellar cistern hernia was found in 4 cases, and empty sella was found in one case. The height of pituitary glands was 3.00-7.00mm in children with normal pituitary morphology and signal manifestation. Conclusion MRI pituitary examination can clearly display the anatomy and the signal of the pituitary gland, therefore MR imaging is of important value in the diagnosis of the etiology diagnosis, treatment, and prognosis of children with short stature. It should be the preferred examination. DOI: 10.11855/j.issn.0577-7402.2013.11.008

  3. MR of pituitary micro-adenomas

    International Nuclear Information System (INIS)

    Le Marec, E.; Ait Ameur, A.; David, H.; Pharaboz, C.

    1997-01-01

    Most of the time, rationales to look for pituitary micro-adenomas are based on endocrinal disorder. MRI is often helpful to confirm diagnosis. It gives information about micro-adenomas size and localisation. If conventional sequence are inadequate, a dynamic sequence has then to be performed after Gadolinium injection. Any disorder observed from the pituitary gland must be correlated with the clinical observation and results from biochemistry analysis. False positive happens quite open because of gland morphological variation, incidentalomas and partial volumes. MRI offers the possibility to follow-up treated micro-adenomas evolution especially to detect recurrence. (author)

  4. High dose radiotherapy for pituitary tumours

    International Nuclear Information System (INIS)

    Mead, K.W.

    1981-01-01

    The results of treatment of 120 pituitary tumours are presented. Based on this experience operable chromophobe adenomas are now treated with 5,000 rads in 4 weeks and inoperable ones receive an additional central dose to 7,500 rads. Pituitary Cushing's tumours are given 10,000 rads in 5 weeks using small fields and acromegalics 5,000 rads to the whole sella and 7,500 to its lower half. The absence of complications at these dose levels is attributed to the use of small fields and the precise application of treatment

  5. High dose radiotherapy for pituitary tumours

    Energy Technology Data Exchange (ETDEWEB)

    Mead, K.W. (Queensland Radium Inst., Herston (Australia))

    1981-11-01

    The results of treatment of 120 pituitary tumours are presented. Based on this experience operable chromophobe adenomas are now treated with 5,000 rads in 4 weeks and inoperable ones receive an additional central dose to 7,500 rads. Pituitary Cushing's tumours are given 10,000 rads in 5 weeks using small fields and acromegalics 5,000 rads to the whole sella and 7,500 to its lower half. The absence of complications at these dose levels is attributed to the use of small fields and the precise application of treatment.

  6. Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean Population.

    Directory of Open Access Journals (Sweden)

    Eun Jin Woo

    Full Text Available Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease. The diffused deformities in the upper-limb bones and several coarsened features of the craniofacial bones indicate the most likely diagnosis to have been a certain type of lysosomal storage disease. The skeletal remains of EP-III-4-No.107 from the Eunpyeong site, although incomplete and fragmented, provide important clues to the paleopathological diagnosis of skeletal dysplasias.

  7. Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations.

    Science.gov (United States)

    Waldron, James S; Hetts, Steven W; Armstrong-Wells, Jennifer; Dowd, Christopher F; Fullerton, Heather J; Gupta, Nalin; Lawton, Michael T

    2009-11-01

    Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare genetic syndrome characterized by extremely small stature and microcephaly, and is associated in 25% of patients with intracranial aneurysms and moyamoya disease. Although aneurysmal subarachnoid hemorrhage and stroke are leading causes of morbidity and death in these patients, MOPD II is rarely examined in the neurosurgical literature. The authors report their experience with 3 patients who presented with MOPD II, which includes a patient with 8 aneurysms (the most aneurysms reported in the literature), and the first report of a patient with both moyamoya disease and multiple aneurysms. The poor natural history of these lesions indicates aggressive microsurgical and/or endovascular therapy. Microsurgery, whether for aneurysm clip placement or extracranial-intracranial bypass, is challenging due to tight surgical corridors and diminutive arteries in these patients, but is technically feasible and strongly indicated when multiple aneurysms must be treated or cerebral revascularization is needed.

  8. Dwarfism and age-associated spinal degeneration of heterozygote cmd mice defective in aggrecan

    Science.gov (United States)

    Watanabe, Hideto; Nakata, Ken; Kimata, Koji; Nakanishi, Isao; Yamada, Yoshihiko

    1997-01-01

    Mouse cartilage matrix deficiency (cmd) is an autosomal recessive disorder caused by a genetic defect of aggrecan, a large chondroitin sulfate proteoglycan in cartilage. The homozygotes (−/−) are characterized by cleft palate and short limbs, tail, and snout. They die just after birth because of respiratory failure, and the heterozygotes (+/−) appear normal at birth. Here we report that the heterozygotes show dwarfism and develop spinal misalignment with age. Within 19 months of age, they exhibit spastic gait caused by misalignment of the cervical spine and die because of starvation. Histological examination revealed a high incidence of herniation and degeneration of vertebral discs. Electron microscopy showed a degeneration of disc chondrocytes in the heterozygotes. These findings may facilitate the identification of mutations in humans predisposed to spinal degeneration. PMID:9192671

  9. Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.

    Science.gov (United States)

    Nagy, R; Wang, H; Albrecht, B; Wieczorek, D; Gillessen-Kaesbach, G; Haan, E; Meinecke, P; de la Chapelle, A; Westman, J A

    2012-08-01

    Microcephalic osteodysplastic primordial dwarfism type I (MOPD I) is a rare autosomal recessive developmental disorder characterized by extreme intrauterine growth retardation, severe microcephaly, central nervous system abnormalities, dysmorphic facial features, skin abnormalities, skeletal changes, limb deformations, and early death. Recently, mutations in the RNU4ATAC gene, which encodes U4atac, a small nuclear RNA that is a crucial component of the minor spliceosome, were found to cause MOPD I. MOPD I is the first disease known to be associated with a defect in small nuclear RNAs. We describe here the clinical and molecular data for 17 cases of MOPD I, including 15 previously unreported cases, all carrying biallelic mutations in the RNU4ATAC gene. © 2011 John Wiley & Sons A/S.

  10. Mandible shape and dwarfism in squirrels (Mammalia, Rodentia): interaction of allometry and adaptation

    Science.gov (United States)

    Hautier, Lionel; Fabre, Pierre-Henri; Michaux, Jacques

    2009-06-01

    Squirrels include several independent lineages of dwarf forms distributed into two ecological groups: the dwarf tree and flying squirrels. The mandible of dwarf tree squirrels share a highly reduced coronoid process and a condylar process drawn backwards. Dwarf flying squirrels on the other hand, have an elongated coronoid process and a well-differentiated condylar process. To interpret such a difference, Elliptic Fourier Transform was used to evaluate how mandible shape varies with dwarfism in sciurids. The results obtained show that this clear-cut difference cannot be explained by a simple allometric relationship in relation with size decrease. We concluded that the retention of anteriorly positioned eye sockets, in relation with distance estimation, allowed the conservation of a well-differentiated coronoid process in all flying species, despite the trend towards its reduction observed among sciurids as their size decreases.

  11. Radiolical findings in the hand in Seckel syndrome (bird-headed dwarfism)

    International Nuclear Information System (INIS)

    Poznanski, A.K.; Northwestern Univ., Chicago, IL; Iannaccone, G.; Pasquino, A.M.; Boscherini, B.

    1983-01-01

    Two patients with severe intrauterine growth retardation and bird-headed appearance are described. These two children had most of the clinical features of the so-called Seckel dwarfism. The radiological findings included: (1) ivory epiphyses affecting all phalanges in one patient and many phalanges in another; (2) cone-shaped epiphyses in the proximal phalanges; (3) marked disharmonic bone maturation between carpals and phalanges, between individual carpals, and from side to side; (4) alteration in the length of the hand bones, with considerable similarity of the metacarpophalangeal pattern between the two children; (5) relatively small carpals, which have an angular configuration; and (6) relatively normal or increased cortical thickness of the metacarpals. (orig.)

  12. Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism

    Directory of Open Access Journals (Sweden)

    Harshithaa Thavarajah

    2017-01-01

    Full Text Available Background. This case report discusses the pregnancy outcome of a patient with cartilage-hair hypoplasia, a rare form of dwarfism, and multiple previous orthopedic surgeries. Literature on pregnancy outcomes in patients with cartilage-hair hypoplasia is limited. Case. A 32-year-old patient with cartilage-hair hypoplasia presented at 12 weeks’ gestation to the high-risk obstetrics clinic for care. Preterm labor resulted in cesarean delivery at 34 weeks’ gestation with general anesthetic. Breastfeeding was stopped at 6 weeks due to neonatal complications. Conclusion. Pregnancy and delivery were uncomplicated. A multidisciplinary approach allowed for effective management during pregnancy and postnatal care. This is the first known documented case of prenatal care, delivery, and breastfeeding in a woman with this rare disorder.

  13. Common atrium associated with polydactily and dwarfism in middle age male patient.

    Science.gov (United States)

    Gorani, Daut R; Kamberi, Lulzim S; Gorani, Nora S

    2011-01-01

    Polydactyly associated with dwarfism may serve as a hint for the presence of additional congenital cardiac abnormalities, thus rousing the demand for a detailed cardiac and genetic investigation. In our case, echocardiography findings led to the diagnosis of most likely Ellis-van Creveld syndrome. We may conclude that prenatal diagnosis of the syndrome can be readily achieved by fetoscopy, fetal echocardiography, and molecular genetic testing by amniocentesis or DNA extracted from chorionic villus samples. Prenatal diagnosis can also be established using mutation analysis of EVC gene from fetal DNA. These cases emphasis the importance of fetal examination for accurate diagnosis of rare syndromes. Education of the general public, especially parents, on congenital anomalies as well as improvement of medical and diagnostic facilities is therefore suggested, if not demanded.

  14. Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.

    Science.gov (United States)

    Woo, Eun Jin; Lee, Won-Joon; Hu, Kyung-Seok; Hwang, Jae Joon

    2015-01-01

    Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease. The diffused deformities in the upper-limb bones and several coarsened features of the craniofacial bones indicate the most likely diagnosis to have been a certain type of lysosomal storage disease. The skeletal remains of EP-III-4-No.107 from the Eunpyeong site, although incomplete and fragmented, provide important clues to the paleopathological diagnosis of skeletal dysplasias.

  15. Radiological findings in the hand in Seckel syndrome (bird-headed dwarfism)

    Energy Technology Data Exchange (ETDEWEB)

    Poznanski, A.K.; Iannaccone, G.; Pasquino, A.M.; Boscherini, B.

    1983-02-01

    Two patients with severe intrauterine growth retardation and bird-headed appearance are described. These two children had most of the clinical features of the so-called Seckel dwarfism. The radiological findings included: (1) ivory epiphyses affecting all phalanges in one patient and many phalanges in another; (2) cone-shaped epiphyses in the proximal phalanges; (3) marked disharmonic bone maturation between carpals and phalanges, between individual carpals, and from side to side; (4) alteration in the length of the hand bones, with considerable similarity of the metacarpophalangeal pattern between the two children; (5) relatively small carpals, which have an angular configuration; and (6) relatively normal or increased cortical thickness of the metacarpals.

  16. Pituitary tuberculoma: A consideration in the differential diagnosis in a patient manifesting with pituitary apoplexy-like syndrome

    Directory of Open Access Journals (Sweden)

    Sasima Srisukh

    2016-01-01

    Full Text Available Pituitary tuberculoma is extremely rare, even in endemic regions of tuberculosis and much less frequently as a presentation of pituitary apoplexy. We describe a 25-year-old female presented with sudden onset of headache and vision loss of left eye which mimicking symptoms of pituitary apoplexy. MRI of the pituitary gland showed a rim-enhancing lesion at the intrasellar region extending into the suprasellar area, but absence of posterior bright spot with enhancement of the pituitary stalk. Pituitary hormonal evaluation revealed panhypopituitarism and diabetes insipidus. An urgent transphenoidal surgery of the pituitary gland was undertaken for which the histopathology showed necrotizing granulomatous inflammation with infarcted adjacent pituitary tissue. Despite negative fungal and AFB staining, pituitary tuberculoma was presumptively diagnosed based on imaging, pathology and the high incidence of tuberculosis in the country. After the course of anti-tuberculosis therapy, the clinical findings were dramatically improved, supporting the diagnosis. Pituitary tuberculoma is extremely rare in particular with an apoplexy-like presentation but should be one of the differential diagnosis list of intrasellar lesions in the patient presenting with sudden onset of headache and visual loss. The presence of diabetes insipidus and thickened with enhancement of pituitary stalk on MRI were very helpful in diagnosing pituitary tuberculosis.

  17. Diagnosis of pituitary adenoma by dynamic CT scanning

    International Nuclear Information System (INIS)

    Tanabe, Sumiyoshi; Uede, Teiji; Daibo, Masahiko; Niwa, Jun; Hashi, Kazuo

    1988-01-01

    The advantage of high resolution CT in the diagnosis of pituitary microadenomas has been established, but the diagnosis becomes more difficult when the pituitary microadenoma is less than 5 mm in diameter. We have studied the usefulness of dynamic CT scans particularly for diagnosis of small microadenomas. The dynamic CT scans were performed for 61 normal pituitary glands and 68 pituitary adenomas (36 microadenomas, 32 macroadenomas) with a GECT/T 9800 scanner. Coronal sections of 1.5 mm thickness were taken at the plane just in front of the pituitary stalk of the pituitary gland. Following a bolus intra-venous injection of 40 - 60 ml of contrast media using an automatic injector, ten consecutive CT scans of 2 seconds scan time were obtained, beginning 2 seconds from the start of intravenous injection. The first seven scans were taken with an interval of 2.3 seconds, and the last three scans with an interval of 10 seconds. Then, time-density curves were obtained at the ROI which were set on the anterior pituitary gland, the vascular bed of the pituitary gland, the pituitary stalk and the area of the pituitary adenoma respectively. In a normal pituitary gland, the density increases gradually and makes an S shaped curve, then attains the maximum density value (92.3 CT number) approximately 60 seconds after the administration of contrast media. The pituitary vascular bed is located in midline on the upper surface of the pituitary gland, and shows a symmetrical square, triangular or rhomboid shape. In case of pituitary adenoma, the time-density curve makes a plateau curve and attains the maximum density value (60.1 CT number) approximately 60 seconds after the administration of contrast media. In microadenoma, the pituitary vascular bed is either deformed or compressed, showing an asymmetrical shape. (author)

  18. Conditional expression of Wnt4 during chondrogenesis leads to dwarfism in mice.

    Directory of Open Access Journals (Sweden)

    Hu-Hui Lee

    Full Text Available Wnts are expressed in the forming long bones, suggesting roles in skeletogenesis. To examine the action of Wnts in skeleton formation, we developed a genetic system to conditionally express Wnt4 in chondrogenic tissues of the mouse. A mouse Wnt4 cDNA was introduced into the ubiquitously expressed Rosa26 (R26 locus by gene targeting in embryonic stem (ES cells. The expression of Wnt4 from the R26 locus was blocked by a neomycin selection cassette flanked by loxP sites (floxneo that was positioned between the Rosa26 promoter and the Wnt4 cDNA, creating the allele designated R26(floxneoWnt4. Wnt4 expression was activated during chondrogenesis using Col2a1-Cre transgenic mice that express Cre recombinase in differentiating chondrocytes. R26(floxneoWnt4; Col2a1-Cre double heterozygous mice exhibited a growth deficiency, beginning approximately 7 to 10 days after birth, that resulted in dwarfism. In addition, they also had craniofacial abnormalities, and delayed ossification of the lumbar vertebrae and pelvic bones. Histological analysis revealed a disruption in the organization of the growth plates and a delay in the onset of the primary and secondary ossification centers. Molecular studies showed that Wnt4 overexpression caused decreased proliferation and altered maturation of chondrocytes. In addition, R26(floxneoWnt4; Col2a1-Cre mice had decreased expression of vascular endothelial growth factor (VEGF. These studies demonstrate that Wnt4 overexpression leads to dwarfism in mice. The data indicate that Wnt4 levels must be regulated in chondrocytes for normal growth plate development and skeletogenesis. Decreased VEGF expression suggests that defects in vascularization may contribute to the dwarf phenotype.

  19. Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism)

    Energy Technology Data Exchange (ETDEWEB)

    Daughaday, W.H.; Trivedi, B.

    1987-07-01

    It has recently been recognized that human serum contains a protein that specifically binds human growth hormone (hGH). This protein has the same restricted specificity for hGH as the membrane-bound GH receptor. To determine whether the GH-binding protein is a derivative of, or otherwise related to, the GH receptor, the authors have examined the serum of three patients with Laron-type dwarfism, a condition in which GH refractoriness has been attributed to a defect in the GH receptor. The binding of /sup 125/I-labeled hGH incubated with serum has been measured after gel filtration of the serum through an Ultrogel AcA 44 minicolumn. Results are expressed as percent of specifically bound /sup 125/I-hGH and as specific binding relative to that of a reference serum after correction is made for endogenous GH. The mean +/- SEM of specific binding of sera from eight normal adults (26-46 years of age) was 21.6 +/- 0.45%, and the relative specific binding was 101.1 +/- 8.6%. Sera from 11 normal children had lower specific binding of 12.5 +/- 1.95% and relative specific binding of 56.6 +/- 9.1%. Sera from three children with Laron-type dwarfism lacked any demonstrable GH binding, whereas sera from 10 other children with other types of nonpituitary short stature had normal relative specific binding. They suggest that the serum GH-binding protein is a soluble derivative of the GH receptor. Measurement of the serum GH-binding protein may permit recognition of other abnormalities of the GH receptor.

  20. Adaptive Stress Response in Segmental Progeria Resembles Long-Lived Dwarfism and Calorie Restriction in Mice

    Science.gov (United States)

    Holcomb, Valerie B; von Lindern, Marieke; Jong, Willeke M. C; Zeeuw, Chris I. De; Suh, Yousin; Hasty, Paul; Hoeijmakers, Jan H. J; van der Horst, Gijsbertus T. J; Mitchell, James R

    2006-01-01

    How congenital defects causing genome instability can result in the pleiotropic symptoms reminiscent of aging but in a segmental and accelerated fashion remains largely unknown. Most segmental progerias are associated with accelerated fibroblast senescence, suggesting that cellular senescence is a likely contributing mechanism. Contrary to expectations, neither accelerated senescence nor acute oxidative stress hypersensitivity was detected in primary fibroblast or erythroblast cultures from multiple progeroid mouse models for defects in the nucleotide excision DNA repair pathway, which share premature aging features including postnatal growth retardation, cerebellar ataxia, and death before weaning. Instead, we report a prominent phenotypic overlap with long-lived dwarfism and calorie restriction during postnatal development (2 wk of age), including reduced size, reduced body temperature, hypoglycemia, and perturbation of the growth hormone/insulin-like growth factor 1 neuroendocrine axis. These symptoms were also present at 2 wk of age in a novel progeroid nucleotide excision repair-deficient mouse model (XPDG602D/R722W/XPA−/−) that survived weaning with high penetrance. However, despite persistent cachectic dwarfism, blood glucose and serum insulin-like growth factor 1 levels returned to normal by 10 wk, with hypoglycemia reappearing near premature death at 5 mo of age. These data strongly suggest changes in energy metabolism as part of an adaptive response during the stressful period of postnatal growth. Interestingly, a similar perturbation of the postnatal growth axis was not detected in another progeroid mouse model, the double-strand DNA break repair deficient Ku80 −/− mouse. Specific (but not all) types of genome instability may thus engage a conserved response to stress that evolved to cope with environmental pressures such as food shortage. PMID:17173483

  1. Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism)

    International Nuclear Information System (INIS)

    Daughaday, W.H.; Trivedi, B.

    1987-01-01

    It has recently been recognized that human serum contains a protein that specifically binds human growth hormone (hGH). This protein has the same restricted specificity for hGH as the membrane-bound GH receptor. To determine whether the GH-binding protein is a derivative of, or otherwise related to, the GH receptor, the authors have examined the serum of three patients with Laron-type dwarfism, a condition in which GH refractoriness has been attributed to a defect in the GH receptor. The binding of 125 I-labeled hGH incubated with serum has been measured after gel filtration of the serum through an Ultrogel AcA 44 minicolumn. Results are expressed as percent of specifically bound 125 I-hGH and as specific binding relative to that of a reference serum after correction is made for endogenous GH. The mean +/- SEM of specific binding of sera from eight normal adults (26-46 years of age) was 21.6 +/- 0.45%, and the relative specific binding was 101.1 +/- 8.6%. Sera from 11 normal children had lower specific binding of 12.5 +/- 1.95% and relative specific binding of 56.6 +/- 9.1%. Sera from three children with Laron-type dwarfism lacked any demonstrable GH binding, whereas sera from 10 other children with other types of nonpituitary short stature had normal relative specific binding. They suggest that the serum GH-binding protein is a soluble derivative of the GH receptor. Measurement of the serum GH-binding protein may permit recognition of other abnormalities of the GH receptor

  2. Conditional Expression of Wnt4 during Chondrogenesis Leads to Dwarfism in Mice

    Science.gov (United States)

    Lee, Hu-Hui; Behringer, Richard R.

    2007-01-01

    Wnts are expressed in the forming long bones, suggesting roles in skeletogenesis. To examine the action of Wnts in skeleton formation, we developed a genetic system to conditionally express Wnt4 in chondrogenic tissues of the mouse. A mouse Wnt4 cDNA was introduced into the ubiquitously expressed Rosa26 (R26) locus by gene targeting in embryonic stem (ES) cells. The expression of Wnt4 from the R26 locus was blocked by a neomycin selection cassette flanked by loxP sites (floxneo) that was positioned between the Rosa26 promoter and the Wnt4 cDNA, creating the allele designated R26floxneoWnt4. Wnt4 expression was activated during chondrogenesis using Col2a1-Cre transgenic mice that express Cre recombinase in differentiating chondrocytes. R26floxneoWnt4; Col2a1-Cre double heterozygous mice exhibited a growth deficiency, beginning approximately 7 to 10 days after birth, that resulted in dwarfism. In addition, they also had craniofacial abnormalities, and delayed ossification of the lumbar vertebrae and pelvic bones. Histological analysis revealed a disruption in the organization of the growth plates and a delay in the onset of the primary and secondary ossification centers. Molecular studies showed that Wnt4 overexpression caused decreased proliferation and altered maturation of chondrocytes. In addition, R26floxneoWnt4; Col2a1-Cre mice had decreased expression of vascular endothelial growth factor (VEGF). These studies demonstrate that Wnt4 overexpression leads to dwarfism in mice. The data indicate that Wnt4 levels must be regulated in chondrocytes for normal growth plate development and skeletogenesis. Decreased VEGF expression suggests that defects in vascularization may contribute to the dwarf phenotype. PMID:17505543

  3. Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.

    Science.gov (United States)

    Mirzaa, Ghayda M; Vitre, Benjamin; Carpenter, Gillian; Abramowicz, Iga; Gleeson, Joseph G; Paciorkowski, Alex R; Cleveland, Don W; Dobyns, William B; O'Driscoll, Mark

    2014-08-01

    Defects in centrosome, centrosomal-associated and spindle-associated proteins are the most frequent cause of primary microcephaly (PM) and microcephalic primordial dwarfism (MPD) syndromes in humans. Mitotic progression and segregation defects, microtubule spindle abnormalities and impaired DNA damage-induced G2-M cell cycle checkpoint proficiency have been documented in cell lines from these patients. This suggests that impaired mitotic entry, progression and exit strongly contribute to PM and MPD. Considering the vast protein networks involved in coordinating this cell cycle stage, the list of potential target genes that could underlie novel developmental disorders is large. One such complex network, with a direct microtubule-mediated physical connection to the centrosome, is the kinetochore. This centromeric-associated structure nucleates microtubule attachments onto mitotic chromosomes. Here, we described novel compound heterozygous variants in CENPE in two siblings who exhibit a profound MPD associated with developmental delay, simplified gyri and other isolated abnormalities. CENPE encodes centromere-associated protein E (CENP-E), a core kinetochore component functioning to mediate chromosome congression initially of misaligned chromosomes and in subsequent spindle microtubule capture during mitosis. Firstly, we present a comprehensive clinical description of these patients. Then, using patient cells we document abnormalities in spindle microtubule organization, mitotic progression and segregation, before modeling the cellular pathogenicity of these variants in an independent cell system. Our cellular analysis shows that a pathogenic defect in CENP-E, a kinetochore-core protein, largely phenocopies PCNT-mutated microcephalic osteodysplastic primordial dwarfism-type II patient cells. PCNT encodes a centrosome-associated protein. These results highlight a common underlying pathomechanism. Our findings provide the first evidence for a kinetochore-based route to

  4. Dwarfism in homozygous Agc1CreERT mice is associated with decreased expression of aggrecan.

    Science.gov (United States)

    Rashid, Harunur; Chen, Haiyan; Hassan, Quamarul; Javed, Amjad

    2017-10-01

    Aggrecan (Acan), a large proteoglycan is abundantly expressed in cartilage tissue. Disruption of Acan gene causes dwarfism and perinatal lethality of homozygous mice. Because of sustained expression of Acan in the growth plate and articular cartilage, Agc Cre model has been developed for the regulated ablation of target gene in chondrocytes. In this model, the IRES-CreERT-Neo-pgk transgene is knocked-in the 3'UTR of the Acan gene. We consistently noticed variable weight and size among the Agc Cre littermates, prompting us to examine the cause of this phenotype. Wild-type, Cre-heterozygous (Agc +/Cre ), and Cre-homozygous (Agc Cre/Cre ) littermates were indistinguishable at birth. However, by 1-month, Agc Cre/Cre mice showed a significant reduction in body weight (18-27%) and body length (19-22%). Low body weight and dwarfism was sustained through adulthood and occurred in both genders. Compared with wild-type and Agc +/Cre littermates, long bones and vertebrae were shorter in Agc Cre/Cre mice. Histological analysis of Agc Cre/Cre mice revealed a significant reduction in the length of the growth plate and the thickness of articular cartilage. The amount of proteoglycan deposited in the cartilage of Agc Cre/Cre mice was nearly half of the WT littermates. Analysis of gene expression indicates impaired differentiation of chondrocyte in hyaline cartilage of Agc Cre/Cre mice. Notably, both Acan mRNA and protein was reduced by 50% in Agc Cre/Cre mice. A strong correlation was noted between the level of Acan mRNA and the body length. Importantly, Agc +/Cre mice showed no overt skeletal phenotype. Thus to avoid misinterpretation of data, only the Agc +/Cre mice should be used for conditional deletion of a target gene in the cartilage tissue. © 2017 Wiley Periodicals, Inc.

  5. Dwarfism and insulin resistance in male offspring caused by α1-adrenergic antagonism during pregnancy.

    Science.gov (United States)

    Oelkrug, Rebecca; Herrmann, Beate; Geissler, Cathleen; Harder, Lisbeth; Koch, Christiane; Lehnert, Hendrik; Oster, Henrik; Kirchner, Henriette; Mittag, Jens

    2017-10-01

    Maternal and environmental factors control the epigenetic fetal programming of the embryo, thereby defining the susceptibility for metabolic or endocrine disorders in the offspring. Pharmacological interventions required as a consequence of gestational problems, e.g. hypertension, can potentially interfere with correct fetal programming. As epigenetic alterations are usually only revealed later in life and not detected in studies focusing on early perinatal outcomes, little is known about the long-term epigenetic effects of gestational drug treatments. We sought to test the consequences of maternal α1-adrenergic antagonism during pregnancy, which can occur e.g. during hypertension treatment, for the endocrine and metabolic phenotype of the offspring. We treated C57BL/6NCrl female mice with the α1-adrenergic antagonist prazosin during pregnancy and analyzed the male and female offspring for endocrine and metabolic abnormalities. Our data revealed that maternal α1-adrenergic blockade caused dwarfism, elevated body temperature, and insulin resistance in male offspring, accompanied by reduced IGF-1 serum concentrations as the result of reduced hepatic growth hormone receptor (Ghr) expression. We subsequently identified increased CpG DNA methylation at the transcriptional start site of the alternative Ghr promotor caused by the maternal treatment, which showed a strong inverse correlation to hepatic Ghr expression. Our results demonstrate that maternal α1-adrenergic blockade can constitute an epigenetic cause for dwarfism and insulin resistance. The findings are of immediate clinical relevance as combined α/β-adrenergic blockers are first-line treatment of maternal hypertension. Copyright © 2017 The Authors. Published by Elsevier GmbH.. All rights reserved.

  6. Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.

    Science.gov (United States)

    Bober, Michael B; Niiler, Tim; Duker, Angela L; Murray, Jennie E; Ketterer, Tara; Harley, Margaret E; Alvi, Sabah; Flora, Christina; Rustad, Cecilie; Bongers, Ernie M H F; Bicknell, Louise S; Wise, Carol; Jackson, Andrew P

    2012-11-01

    Microcephalic primordial dwarfism (MPD) is a class of disorders characterized by intrauterine growth restriction (IUGR), impaired postnatal growth and microcephaly. Majewski osteodysplastic primordial dwarfism type II (MOPD II) is one of the more common conditions within this group. MOPD II is caused by truncating mutations in pericentrin (PCNT) and is inherited in an autosomal recessive manner. Detailed growth curves for length, weight, and OFC are presented here and derived from retrospective data from 26 individuals with MOPD II confirmed by molecular or functional studies. Severe pre- and postnatal growth failure is evident in MOPD II patients. The length, weight, and OFC at term (when corrected for gestational age) were -7.0, -3.9, and -4.6 standard deviation (SD) below the population mean and equivalent to the 50th centile of a 28-29-, 31-32-, and 30-31-week neonate, respectively. While at skeletal maturity, the height, weight, and OFC were -10.3, -14.3, and -8.5 SD below the population mean and equivalent to the size of 3-year 10- to 11-month-old, a 5-year 2- to 3-month-old, and 5- to 6-month-old, respectively. During childhood, MOPD II patients grow with slowed, but fairly constant growth velocities and show no evidence of any pubertal growth spurt. Treatment with human growth hormone (n = 11) did not lead to any significant improvement in final stature. The growth charts presented here will be of assistance with diagnosis and management of MOPD II, and should have particular utility in nutritional management of MOPD II during infancy. Copyright © 2012 Wiley Periodicals, Inc.

  7. A novel two-step method for screening shade tolerant mutant plants via dwarfism

    Directory of Open Access Journals (Sweden)

    Wei Li

    2016-10-01

    Full Text Available When subjected to shade, plants undergo rapid shoot elongation, which often makes them more prone to disease and mechanical damage. Shade-tolerant plants can be difficult to breed; however, they offer a substantial benefit over other varieties in low-light areas. Although perennial ryegrass (Lolium perenne L. is a popular species of turf grasses because of their good appearance and fast establishment, the plant normally does not perform well under shade conditions. It has been reported that, in turfgrass, induced dwarfism can enhance shade tolerance. Here we describe a two-step procedure for isolating shade tolerant mutants of perennial ryegrass by first screening for dominant dwarf mutants, and then screening dwarf plants for shade tolerance. The two-step screening process to isolate shade tolerant mutants can be done efficiently with limited space at early seedling stages, which enables quick and efficient isolation of shade tolerant mutants, and thus facilitates development of shade tolerant new cultivars of turfgrasses. Using the method, we isolated 136 dwarf mutants from 300,000 mutagenized seeds, with 65 being shade tolerant (0.022%. When screened directly for shade tolerance, we recovered only four mutants from a population of 150,000 (0.003% mutagenized seeds. One shade tolerant mutant, shadow-1, was characterized in detail. In addition to dwarfism, shadow-1 and its sexual progeny displayed high degrees of tolerance to both natural and artificial shade. We showed that endogenous gibberellin (GA content in shadow-1 was higher than wild-type controls, and shadow-1 was also partially GA insensitive. Our novel, simple and effective two-step screening method should be applicable to breeding shade tolerant cultivars of turfgrasses, ground covers, and other economically important crop plants that can be used under canopies of existing vegetation to increase productivity per unit area of land.

  8. Adaptive stress response in segmental progeria resembles long-lived dwarfism and calorie restriction in mice.

    Science.gov (United States)

    van de Ven, Marieke; Andressoo, Jaan-Olle; Holcomb, Valerie B; von Lindern, Marieke; Jong, Willeke M C; De Zeeuw, Chris I; Suh, Yousin; Hasty, Paul; Hoeijmakers, Jan H J; van der Horst, Gijsbertus T J; Mitchell, James R

    2006-12-15

    How congenital defects causing genome instability can result in the pleiotropic symptoms reminiscent of aging but in a segmental and accelerated fashion remains largely unknown. Most segmental progerias are associated with accelerated fibroblast senescence, suggesting that cellular senescence is a likely contributing mechanism. Contrary to expectations, neither accelerated senescence nor acute oxidative stress hypersensitivity was detected in primary fibroblast or erythroblast cultures from multiple progeroid mouse models for defects in the nucleotide excision DNA repair pathway, which share premature aging features including postnatal growth retardation, cerebellar ataxia, and death before weaning. Instead, we report a prominent phenotypic overlap with long-lived dwarfism and calorie restriction during postnatal development (2 wk of age), including reduced size, reduced body temperature, hypoglycemia, and perturbation of the growth hormone/insulin-like growth factor 1 neuroendocrine axis. These symptoms were also present at 2 wk of age in a novel progeroid nucleotide excision repair-deficient mouse model (XPD(G602D/R722W)/XPA(-/-)) that survived weaning with high penetrance. However, despite persistent cachectic dwarfism, blood glucose and serum insulin-like growth factor 1 levels returned to normal by 10 wk, with hypoglycemia reappearing near premature death at 5 mo of age. These data strongly suggest changes in energy metabolism as part of an adaptive response during the stressful period of postnatal growth. Interestingly, a similar perturbation of the postnatal growth axis was not detected in another progeroid mouse model, the double-strand DNA break repair deficient Ku80(-/-) mouse. Specific (but not all) types of genome instability may thus engage a conserved response to stress that evolved to cope with environmental pressures such as food shortage.

  9. Adaptive stress response in segmental progeria resembles long-lived dwarfism and calorie restriction in mice.

    Directory of Open Access Journals (Sweden)

    Marieke van de Ven

    2006-12-01

    Full Text Available How congenital defects causing genome instability can result in the pleiotropic symptoms reminiscent of aging but in a segmental and accelerated fashion remains largely unknown. Most segmental progerias are associated with accelerated fibroblast senescence, suggesting that cellular senescence is a likely contributing mechanism. Contrary to expectations, neither accelerated senescence nor acute oxidative stress hypersensitivity was detected in primary fibroblast or erythroblast cultures from multiple progeroid mouse models for defects in the nucleotide excision DNA repair pathway, which share premature aging features including postnatal growth retardation, cerebellar ataxia, and death before weaning. Instead, we report a prominent phenotypic overlap with long-lived dwarfism and calorie restriction during postnatal development (2 wk of age, including reduced size, reduced body temperature, hypoglycemia, and perturbation of the growth hormone/insulin-like growth factor 1 neuroendocrine axis. These symptoms were also present at 2 wk of age in a novel progeroid nucleotide excision repair-deficient mouse model (XPD(G602D/R722W/XPA(-/- that survived weaning with high penetrance. However, despite persistent cachectic dwarfism, blood glucose and serum insulin-like growth factor 1 levels returned to normal by 10 wk, with hypoglycemia reappearing near premature death at 5 mo of age. These data strongly suggest changes in energy metabolism as part of an adaptive response during the stressful period of postnatal growth. Interestingly, a similar perturbation of the postnatal growth axis was not detected in another progeroid mouse model, the double-strand DNA break repair deficient Ku80(-/- mouse. Specific (but not all types of genome instability may thus engage a conserved response to stress that evolved to cope with environmental pressures such as food shortage.

  10. Impaired Pituitary Axes Following Traumatic Brain Injury

    Directory of Open Access Journals (Sweden)

    Robert A. Scranton

    2015-07-01

    Full Text Available Pituitary dysfunction following traumatic brain injury (TBI is significant and rarely considered by clinicians. This topic has received much more attention in the last decade. The incidence of post TBI anterior pituitary dysfunction is around 30% acutely, and declines to around 20% by one year. Growth hormone and gonadotrophic hormones are the most common deficiencies seen after traumatic brain injury, but also the most likely to spontaneously recover. The majority of deficiencies present within the first year, but extreme delayed presentation has been reported. Information on posterior pituitary dysfunction is less reliable ranging from 3%–40% incidence but prospective data suggests a rate around 5%. The mechanism, risk factors, natural history, and long-term effect of treatment are poorly defined in the literature and limited by a lack of standardization. Post TBI pituitary dysfunction is an entity to recognize with significant clinical relevance. Secondary hypoadrenalism, hypothyroidism and central diabetes insipidus should be treated acutely while deficiencies in growth and gonadotrophic hormones should be initially observed.

  11. MRI of pituitary adenomas following treatment

    Energy Technology Data Exchange (ETDEWEB)

    Gouliamos, A. [Dept. of Radiology, CT and MRI Section, Areteion Hospital, Univ. of Athens (Greece); Athanassopoulou, A. [Dept. of Radiology, CT and MRI Section, Areteion Hospital, Univ. of Athens (Greece); Rologis, D. [Neurosurgical Clinic, Athens General Hospital (Greece); Kalovidouris, A. [Dept. of Radiology, CT and MRI Section, Areteion Hospital, Univ. of Athens (Greece); Kotoulas, G. [Dept. of Radiology, CT and MRI Section, Areteion Hospital, Univ. of Athens (Greece); Vlahos, L. [Dept. of Radiology, CT and MRI Section, Areteion Hospital, Univ. of Athens (Greece); Papavassiliou, C. [Dept. of Radiology, CT and MRI Section, Areteion Hospital, Univ. of Athens (Greece)

    1993-10-01

    The purpose of this study was to assess pituitary adenomas following surgical and/or medical treatment in 28 patients. All patients were evaluated with both computed tomography (CT) and magnetic resonance imaging (MRI). The results were correlated with the clinical findings. Apart from the visualization of the adenoma itself (either residual or recurrent) other findings and in particular, morphological changes of the optic chiasm, the pituitary stalk and the sellar floor were evaluated with both imaging modalities. By comparing the two imaging modalities it was found that MRI was superior to CT in demonstrating residual/recurrent adenoma as well as evaluating the morphological changes of the optic chiasm and optic nerves. CT was superior or equal to MR in demonstrating the sellar floor changes. The intra-operatively implanted fat was equally seen by CT and MR. In conclusion, the anatomical variations of the optic chiasm and pituitary stalk are better visualized by MRI and allow a more precise evaluation of changes attributed to surgical or medical treatment of pituitary adenomas. (orig.)

  12. MRI of pituitary adenomas following treatment

    International Nuclear Information System (INIS)

    Gouliamos, A.; Athanassopoulou, A.; Rologis, D.; Kalovidouris, A.; Kotoulas, G.; Vlahos, L.; Papavassiliou, C.

    1993-01-01

    The purpose of this study was to assess pituitary adenomas following surgical and/or medical treatment in 28 patients. All patients were evaluated with both computed tomography (CT) and magnetic resonance imaging (MRI). The results were correlated with the clinical findings. Apart from the visualization of the adenoma itself (either residual or recurrent) other findings and in particular, morphological changes of the optic chiasm, the pituitary stalk and the sellar floor were evaluated with both imaging modalities. By comparing the two imaging modalities it was found that MRI was superior to CT in demonstrating residual/recurrent adenoma as well as evaluating the morphological changes of the optic chiasm and optic nerves. CT was superior or equal to MR in demonstrating the sellar floor changes. The intra-operatively implanted fat was equally seen by CT and MR. In conclusion, the anatomical variations of the optic chiasm and pituitary stalk are better visualized by MRI and allow a more precise evaluation of changes attributed to surgical or medical treatment of pituitary adenomas. (orig.)

  13. Pituitary gland imaging in Cushing's disease

    International Nuclear Information System (INIS)

    Bonneville, J.F.; Cattin, F.; Bonneville, F.; Schillo, F.; Jacquet, G.

    2003-01-01

    Specific MR techniques are r-required for optimal detection of adrenocorticotropic hormone secreting adenomas responsible for Cushing's disease. Adequate MR sequences, high resolution coronal T1 and T2 - weighted images, dynamic MR imaging, post-gadolinium delayed images, dose of gadolinium adjusted for each sequence can routinely demonstrate pituitary adenomas less than 3 mm in Cushing's disease. (authors)

  14. Pituitary and mammary growth hormone in dogs

    NARCIS (Netherlands)

    Bhatti, Sofie Fatima Mareyam

    2006-01-01

    Several pathological (e.g. obesity and chronic hypercortisolism) and non-pathological (e.g. ageing) states in humans are characterized by a reduction in pituitary growth hormone (GH) secretion. Chronic hypercortisolism in humans is also associated with an impaired GH response to various stimuli.

  15. Molecular genetics of pituitary development in zebrafish.

    Science.gov (United States)

    Pogoda, Hans-Martin; Hammerschmidt, Matthias

    2007-08-01

    The pituitary gland of vertebrates consists of two major parts, the neurohypophysis (NH) and the adenohypophysis (AH). As a central part of the hypothalamo-hypophyseal system (HHS), it constitutes a functional link between the nervous and the endocrine system to regulate basic body functions, such as growth, metabolism and reproduction. The development of the AH has been intensively studied in mouse, serving as a model for organogenesis and differential cell specification. However, given that the AH is a relatively recent evolutionary advance of the chordate phylum, it is also interesting to understand its development in lower chordate systems. In recent years, the zebrafish has emerged as a powerful lower vertebrate system for developmental studies, being amenable for large-scale genetic approaches, embryological manipulations, and in vivo imaging. Here, we present an overview of current knowledge of the mechanisms and genetic control of pituitary formation during zebrafish development. First, we describe the components of the zebrafish HHS, and the different pituitary cell types and hormones, followed by a description of the different steps of normal pituitary development. The central part of the review deals with the genes found to be essential for zebrafish AH development, accompanied by a description of the corresponding mutant phenotypes. Finally, we discuss future directions, with particular focus on evolutionary aspects, and some novel functional aspects with growing medical and social relevance.

  16. pituitary tumours, epidemiology, pathogenesis and management ...

    African Journals Online (AJOL)

    The management of pituitary tumours has advanced considerably over the last decade. A variety of novel dopamine agonists has revolutionised the management of prolactinomas, while the availability of effective somatostatin analogues has raised the possibility of primary medical treatment of acromegaly. Furthermore, the ...

  17. T3 receptors in human pituitary tumors.

    Science.gov (United States)

    Machiavelli, Gloria A; Pauni, Micaela; Heredia Sereno, Gastón M; Szijan, Irene; Basso, Armando; Burdman, José A

    2009-11-01

    The purpose of this work was to investigate the synthesis of T3 receptors in human tumors of the anterior pituitary gland, its relationship with the hormone synthesized and/or secreted by the tumor and the post-surgical evolution of the patient. Patients were evaluated clinically and by magnetic nuclear resonance to classify the adenoma according to their size. Hormonal concentrations in sera were determined by radioimmunoassay. Immunohistochemistry of the pituitary hormones was performed in the tumors. Tumors were obtained at surgery and immediately frozen in ice, transported to the laboratory and stored at -70 degrees C. Reverse transcription was performed with purified RNA from the tumors. Out of 33 pituitary tumors, 29 had RNA for T3 receptors synthesis (88%). They were present in different histological specimens, the tumors were grades 1-4 according to their size, and there was no relationship between the size of the tumor and the presence of T3 receptor RNAs. The post-surgical evolution of the patient was mostly dependent on the size and not on the presence of T3 receptors. The presence of thyroid hormone receptors in pituitary tumors is in line with two important characteristics of these tumors: they are histologically benign and well differentiated.

  18. Pituitary diseases : long-term psychological consequences

    NARCIS (Netherlands)

    Tiemensma, Jitske

    2012-01-01

    Nowadays, pituitary adenomas can be appropriately treated, but patients continue to report impaired quality of life (QoL) despite long-term remission or cure. In patients with Cushing’s disease, Cushing’s syndrome or acromegaly, doctors should be aware of subtle cognitive impairments and the

  19. Criteria for the definition of Pituitary Tumor Centers of Excellence (PTCOE): A Pituitary Society Statement.

    Science.gov (United States)

    Casanueva, Felipe F; Barkan, Ariel L; Buchfelder, Michael; Klibanski, Anne; Laws, Edward R; Loeffler, Jay S; Melmed, Shlomo; Mortini, Pietro; Wass, John; Giustina, Andrea

    2017-10-01

    With the goal of generate uniform criteria among centers dealing with pituitary tumors and to enhance patient care, the Pituitary Society decided to generate criteria for developing Pituitary Tumors Centers of Excellence (PTCOE). To develop that task, a group of ten experts served as a Task Force and through two years of iterative work an initial draft was elaborated. This draft was discussed, modified and finally approved by the Board of Directors of the Pituitary Society. Such document was presented and debated at a specific session of the Congress of the Pituitary Society, Orlando 2017, and suggestions were incorporated. Finally the document was distributed to a large group of global experts that introduced further modifications with final endorsement. After five years of iterative work a document with the ideal criteria for a PTCOE is presented. Acknowledging that very few centers in the world, if any, likely fulfill the requirements here presented, the document may be a tool to guide improvements of care delivery to patients with pituitary disorders. All these criteria must be accommodated to the regulations and organization of Health of a given country.

  20. How effective is external pituitary irradiation for growth hormone-secreting pituitary tumours

    International Nuclear Information System (INIS)

    Feek, C.M.; McLelland, J.; Seth, J.; Toft, A.D.; Irvine, W.J.; Padfield, P.L.; Edwards, C.R.W.

    1984-01-01

    Forty-six patients with GH-secreting pituitary tumours were treated with external pituitary irradiation through two opposed fields to a total dose of 3750 cGy over 15 fractions. Thirty-patients received external radiotherapy as primary treatment; 16 received radiotherapy combined with pituitary surgery. The mean (+- SD) serum GH in the former group was 74.3 +- 74.8 mU/l before treatment, falling by 28% per year over 0-5 years and by 16% per year over 0-20 years. The mean (+- SD) serum GH in the latter group was 265.4 +- 209.3 mU/l before treatment, falling by 76% in the first year-a direct result of surgery-then by 30% per year over 1-5 years and 16% per year over 1-20 years. Progressive failure of normal anterior pituitary function developed by 10 years, with variable loss of gonadotrophin, corticotrophin and thyrotrophin function. The respective figures for patients treated with radiotherapy alone were 47.4, 29.6 and 16.0% and for the combined group 70.2, 53.9 and 38.1%. Whilst external pituitary irradiation appears to reduce serum GH concentrations in patients with GH-secreting pituitary tumours the major disadvantages are the time taken to achieve a cure and the high incidence of hypopituitarism. (author)

  1. G protein abnormalities in pituitary adenomas.

    Science.gov (United States)

    Spada, A; Lania, A; Ballarè, E

    1998-07-25

    It has been demonstrated that the majority of secreting and nonsecreting adenomas is monoclonal in origin suggesting that these neoplasia arise from the replication of a single mutated cell, in which growth advantage results from either activation of protooncogenes or inactivation of antioncogenes. Although a large number of genes has been screened for mutations, only few genetic abnormalities have been found in pituitary tumors such as allelic deletion of chromosome 11q13 where the MEN-1 gene has been localised, and mutations in the gene encoding the alpha subunit of the stimulatory Gs and Gi2 protein. These mutations constitutively activate the alpha subunit of the Gs and Gi2 protein by inhibiting their intrinsic GTPase activity. Both Gs alpha and Gi2alpha can be considered products of protooncogenes (gsp and gip2, respectively) since gain of function mutations that activate mitogenic signals have been recognized in human tumors. Gsp oncogene is found in 30-40% of GH-secreting adenomas, in a low percentage of nonfunctioning and ACTH-secreting pituitary adenomas, in toxic thyroid adenomas and differentiated thyroid carcinomas. The same mutations, occurred early in embriogenesis, have been also identified in tissues from patients affected with the McCune Albright syndrome. These mutations result in an increased cAMP production and in the subsequent overactivation of specific pathways involved in both cell growth and specific programmes of cell differentiation. By consequence, the endocrine tumors expressing gsp oncogene retain differentiated functions. The gip2 oncogene has been identified in about 10% of nonfunctioning pituitary adenomas, in tumors of the ovary and the adrenal cortex. However, it remains to be established whether Gi proteins activate mitogenic signals in pituitary cells. Since Gi proteins are involved in mediating the effect of inhibitory neurohormones on intracellular effectors, it has been proposed that in pituitary tumors the low expression of

  2. MRI study of pituitary in girls with central precocious puberty

    International Nuclear Information System (INIS)

    Ye Zhiqiu; Guo Qinglu; Feng Changzheng; Wei Beiyang; Liu Yongxi; Zhang Yan

    2008-01-01

    Objective: To study the shape, size and signal intensity of pituitary gland in girls aged 3-10 year old with central precocious puberty. Methods: MRI data of pituitary glands in 40 girls aged 3-10 years old with central precocious puberty were selected. The shape, height and the appearances of pituitary glands were measured and observed on sagittal T 1 WI. Results: Quantitative data about size, shape and single intensity changes of pituitary glands in central precocious puberty were obtained in two groups, including girls aged from 3-5 and 5-10. The convex pituitary gland were 85.0% in former group. The height of pituitary gland were 6.1±0.2mm (former group) and 6.4± 0.4mm (latter one) respectively. The width of pituitary stalk was 1.93±0.50mm. The posterior pituitary gland demonstrated high signal intensity in all cases. Conclusion: Obvious changes of the size and shape of pituitary glands were found in central precocious puberty of girls aged from 3-10. The pituitary glands manifested physiologic hypertrophy with more convex in central precocious puberty girls than in normal ones. The changes on MRI could reflect the function of hypothalamus-pituitary-gonadal axis. It is of important value and significance in the diagnosis of central precocious puberty. (authors)

  3. Pituitary abscess: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Apostolos K A Karagiannis

    2016-06-01

    Full Text Available Pituitary abscess is a rare life-threating entity that is usually misdiagnosed as a pituitary tumor with a definite diagnosis only made postoperatively. Over the last several decades, advances in healthcare have led to a significant decrease in morbidity and mortality due to pituitary abscess. We report a case of a 34-year-old woman who was admitted to our department for investigation of a pituitary mass and with symptoms of pituitary dysfunction, headaches and impaired vision. During her admission, she developed meningitis-like symptoms and was treated with antibiotics. She eventually underwent transsphenoidal surgery for excision of the pituitary mass. A significant amount of pus was evident intraoperatively; however, no pathogen was isolated. Six months later, the patient was well and had full recovery of the anterior pituitary function. Her menses returned, and she was only on treatment with desmopressin for diabetes insipidus that developed postoperatively.

  4. MRI evaluation of pituitary hyperplasia due to primary hypothyroidism

    International Nuclear Information System (INIS)

    Jiang Chunjing; Shu Jin'er; Li Huimin; Sheng Sanlan; Lu Jinhua

    2010-01-01

    Objective: To analyze the MRI manifestations of the pituitary hyperplasia due to primary hypothyroidism and to improve the differential diagnosis of secondary pituitary hyperplasia and pituitary tumors. Methods: The MRI findings of pituitary hyperplasia in 10 documented primary hypothyroidism patients (male 3, female 7; age range: 9-15 years) were reviewed. The pulse sequences using a 1.0T MR scanner included coronal and sagittal T 1 W, coronal T 2 W and coronal contrast-enhanced T 1 W in all patients. Results: The pituitary gland was markedly enlarged with mean height of 15.5 mm (11-23 mm). Central bulging of pituitary gland was seen in all 10 patients with mild displacement of the infundibulum in 3 and sellar enlargement in 5. All glands had homogeneous MR signal intensities and contrast enhancement. Conclusion: Pituitary hyperplasia due to primary hypothyroidism has characteristic MR features of central bulging with homogeneous signal intensities and contrast enhancement. (authors)

  5. Hypopituitarism after stereotactic radiosurgery for pituitary adenomas.

    Science.gov (United States)

    Xu, Zhiyuan; Lee Vance, Mary; Schlesinger, David; Sheehan, Jason P

    2013-04-01

    Studies of new-onset Gamma Knife stereotactic radiosurgery (SRS)-induced hypopituitarism in large cohort of pituitary adenoma patients with long-term follow-up are lacking. We investigated the outcomes of SRS for pituitary adenoma patients with regard to newly developed hypopituitarism. This was a retrospective review of patients treated with SRS at the University of Virginia between 1994 and 2006. A total of 262 patients with a pituitary adenoma treated with SRS were reviewed. Thorough endocrine assessment was performed immediately before SRS and in regular follow-ups. Assessment consisted of 24-hour urine free cortisol (patients with Cushing disease), serum adrenocorticotropic hormone, cortisol, follicle-stimulating hormone, luteinizing hormone, insulin-like growth factor-1, growth hormone, testosterone (men), prolactin, thyroid-stimulating hormone, and free T(4). Endocrine remission occurred in 144 of 199 patients with a functioning adenoma. Tumor control rate was 89%. Eighty patients experienced at least 1 axis of new-onset SRS-induced hypopituitarism. The new hypopituitarism rate was 30% based on endocrine follow-up ranging from 6 to 150 months; the actuarial rate of new pituitary hormone deficiency was 31.5% at 5 years after SRS. On univariate and multivariate analyses, variables regarding the increased risk of hypopituitarism included suprasellar extension and higher radiation dose to the tumor margin; there were no correlations among tumor volume, prior transsphenoidal adenomectomy, prior radiation therapy, and age at SRS. SRS provides an effective and safe treatment option for patients with a pituitary adenoma. Higher margin radiation dose to the adenoma and suprasellar extension were 2 independent predictors of SRS-induced hypopituitarism.

  6. Structural Pituitary Abnormalities Associated With CHARGE Syndrome

    Science.gov (United States)

    Gregory, Louise C.; Gevers, Evelien F.; Baker, Joanne; Kasia, Tessa; Chong, Kling; Josifova, Dragana J.; Caimari, Maria; Bilan, Frederic; McCabe, Mark J.

    2013-01-01

    Introduction: CHARGE syndrome is a multisystem disorder that, in addition to Kallmann syndrome/isolated hypogonadotrophic hypogonadism, has been associated with anterior pituitary hypoplasia (APH). However, structural abnormalities such as an ectopic posterior pituitary (EPP) have not yet been described in such patients. Objective: The aims of the study were: 1) to describe the association between CHARGE syndrome and a structurally abnormal pituitary gland; and 2) to investigate whether CHD7 variants, which are identified in 65% of CHARGE patients, are common in septo-optic dysplasia /hypopituitarism. Methods: We describe 2 patients with features of CHARGE and EPP. CHD7 was sequenced in these and other patients with septo-optic dysplasia/hypopituitarism. Results: EPP, APH, and GH, TSH, and probable LH/FSH deficiency were present in 1 patient, and EPP and APH with GH, TSH, LH/FSH, and ACTH deficiency were present in another patient, both of whom had features of CHARGE syndrome. Both had variations in CHD7 that were novel and undetected in control cohorts or in the international database of CHARGE patients, but were also present in their unaffected mothers. No CHD7 variants were detected in the patients with septo-optic dysplasia/hypopituitarism without additional CHARGE features. Conclusion: We report a novel association between CHARGE syndrome and structural abnormalities of the pituitary gland in 2 patients with variations in CHD7 that are of unknown significance. However, CHD7 mutations are an uncommon cause of septo-optic dysplasia or hypopituitarism. Our data suggest the need for evaluation of pituitary function/anatomy in patients with CHARGE syndrome. PMID:23526466

  7. A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Angus cattle.

    Science.gov (United States)

    Koltes, James E; Mishra, Bishnu P; Kumar, Dinesh; Kataria, Ranjit S; Totir, Liviu R; Fernando, Rohan L; Cobbold, Rowland; Steffen, David; Coppieters, Wouter; Georges, Michel; Reecy, James M

    2009-11-17

    Historically, dwarfism was the major genetic defect in U.S. beef cattle. Aggressive culling and sire testing were used to minimize its prevalence; however, neither of these practices can eliminate a recessive genetic defect. We assembled a 4-generation pedigree to identify the mutation underlying dwarfism in American Angus cattle. An adaptation of the Elston-Steward algorithm was used to overcome small pedigree size and missing genotypes. The dwarfism locus was fine-mapped to BTA6 between markers AFR227 and BM4311. Four candidate genes were sequenced, revealing a nonsense mutation in exon 15 of cGMP-dependant type II protein kinase (PRKG2). This C/T transition introduced a stop codon (R678X) that truncated 85 C-terminal amino acids, including a large portion of the kinase domain. Of the 75 mutations discovered in this region, only this mutation was 100% concordant with the recessive pattern of inheritance in affected and carrier individuals (log of odds score = 6.63). Previous research has shown that PRKG2 regulates SRY (sex-determining region Y) box 9 (SOX9)-mediated transcription of collagen 2 (COL2). We evaluated the ability of wild-type (WT) or R678X PRKG2 to regulate COL2 expression in cell culture. Real-time PCR results confirmed that COL2 is overexpressed in cells that overexpressed R678X PRKG2 as compared with WT PRKG2. Furthermore, COL2 and COL10 mRNA expression was increased in dwarf cattle compared with unaffected cattle. These experiments indicate that the R678X mutation is functional, resulting in a loss of PRKG2 regulation of COL2 and COL10 mRNA expression. Therefore, we present PRKG2 R678X as a causative mutation for dwarfism cattle.

  8. Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7

    OpenAIRE

    Leegwater, Peter A.; Vos-Loohuis, Manon; Ducro, Bart J.; Boegheim, Iris J.; van Steenbeek, Frank G.; Nijman, Isaac J.; Monroe, Glen R.; Bastiaansen, John W. M.; Dibbits, Bert W.; van de Goor, Leanne H.; Hellinga, Ids; Back, Willem; Schurink, Anouk

    2016-01-01

    Background Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back appear normal. A striking feature of the condition is the flexor tendon laxity that leads to hyperextension of the fetlock joints. The growth plates of dwarfs display disorganized and thickened chondrocyte columns. The aim of this study was to ident...

  9. Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7

    OpenAIRE

    Leegwater, Peter A.; Vos-Loohuis, Manon; Ducro, Bart J.; Boegheim, Iris J.; Bastiaansen, John W.M.; Dibbits, Bert W.; Schurink, Anouk

    2016-01-01

    Background: Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back appear normal. A striking feature of the condition is the flexor tendon laxity that leads to hyperextension of the fetlock joints. The growth plates of dwarfs display disorganized and thickened chondrocyte columns. The aim of this study was to iden...

  10. Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?

    Science.gov (United States)

    Fryns, J P; Moerman, P

    1993-01-01

    A male newborn with acromesomelic short limbed dwarfism, genital hypoplasia, and vertebral anomalies is reported. As the child had an important number of clinical and radiological symptoms seen in patients with Ellis-van Creveld syndrome, we raise the question of whether he may represent a variant example of this syndrome despite the absence of cardinal symptoms such as postaxial polydactyly and ectodermal changes (nail hypoplasia). Images PMID:8487282

  11. Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?

    OpenAIRE

    Fryns, J P; Moerman, P

    1993-01-01

    A male newborn with acromesomelic short limbed dwarfism, genital hypoplasia, and vertebral anomalies is reported. As the child had an important number of clinical and radiological symptoms seen in patients with Ellis-van Creveld syndrome, we raise the question of whether he may represent a variant example of this syndrome despite the absence of cardinal symptoms such as postaxial polydactyly and ectodermal changes (nail hypoplasia).

  12. Short beak and dwarfism syndrome (SBDS) of mule duck is caused by a distinct lineage of Goose parvovirus

    OpenAIRE

    Palya , Vilmos; Zolnai , Anna; Benyeda , Zsofia; Kovács , Edit; Kardi , Veronika; Mató , Tamás

    2009-01-01

    Abstract From early `70s till now numerous cases of ?short beak and dwarfism syndrome? have been reported in mule ducks from France. The animals showed strong growth retardation with smaller beak and tarsus. The syndrome was suggested to be caused by goose parvovirus on the basis of serological investigation, but the causative agent has not been isolated and the disease has not been reproduced by experimental infection so far. The aim of the present study was to characterize the vi...

  13. A novel mutation in the thyroglobulin gene that causes goiter and dwarfism in Wistar Hannover GALAS rats.

    Science.gov (United States)

    Sato, Akira; Abe, Kuniya; Yuzuriha, Misako; Fujii, Sakiko; Takahashi, Naofumi; Hojo, Hitoshi; Teramoto, Shoji; Aoyama, Hiroaki

    2014-04-01

    Outbred stocks of rats have been used extensively in biomedical, pharmaceutical and/or toxicological studies as a model of genetically heterogeneous human populations. One of such stocks is the Wistar Hannover GALAS rat. However, the colony of Wistar Hannover GALAS rat has been suspected of keeping a problematic mutation that manifests two distinct spontaneous abnormalities, goiter and dwarfism, which often confuses study results. We have successfully identified the responsible mutation, a guanine to thymine transversion at the acceptor site (3' end) of intron 6 in the thyroglobulin (Tg) gene (Tgc.749-1G>T), that induces a complete missing of exon 7 from the whole Tg transcript by mating experiments and subsequent molecular analyses. The following observations confirmed that Tgc.749-1G>T/Tgc.749-1G>T homozygotes manifested both dwarfism and goiter, while Tgc.749-1G>T/+ heterozygotes had only a goiter with normal appearance, suggesting that the mutant phenotypes inherit as an autosomal semi-dominant trait. The mutant phenotypes, goiter and dwarfism, mimicked those caused by typical endocrine disrupters attacking the thyroid. Hence a simple and reliable diagnostic methodology has been developed for genomic DNA-based genotyping of animals. The diagnostic methodology reported here would allow users of Wistar Hannover GALAS rats to evaluate their study results precisely by carefully interpreting the data obtained from Tgc.749-1G>T/+ heterozygotes having externally undetectable thyroidal lesions. Copyright © 2014 Elsevier B.V. All rights reserved.

  14. Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice.

    Science.gov (United States)

    Zhang, Honghao; Kamiya, Nobuhiro; Tsuji, Takehito; Takeda, Haruko; Scott, Greg; Rajderkar, Sudha; Ray, Manas K; Mochida, Yoshiyuki; Allen, Benjamin; Lefebvre, Veronique; Hung, Irene H; Ornitz, David M; Kunieda, Tetsuo; Mishina, Yuji

    2016-12-01

    Ellis-van Creveld (EvC) syndrome is a skeletal dysplasia, characterized by short limbs, postaxial polydactyly, and dental abnormalities. EvC syndrome is also categorized as a ciliopathy because of ciliary localization of proteins encoded by the two causative genes, EVC and EVC2 (aka LIMBIN). While recent studies demonstrated important roles for EVC/EVC2 in Hedgehog signaling, there is still little known about the pathophysiological mechanisms underlying the skeletal dysplasia features of EvC patients, and in particular why limb development is affected, but not other aspects of organogenesis that also require Hedgehog signaling. In this report, we comprehensively analyze limb skeletogenesis in Evc2 mutant mice and in cell and tissue cultures derived from these mice. Both in vivo and in vitro data demonstrate elevated Fibroblast Growth Factor (FGF) signaling in Evc2 mutant growth plates, in addition to compromised but not abrogated Hedgehog-PTHrP feedback loop. Elevation of FGF signaling, mainly due to increased Fgf18 expression upon inactivation of Evc2 in the perichondrium, critically contributes to the pathogenesis of limb dwarfism. The limb dwarfism phenotype is partially rescued by inactivation of one allele of Fgf18 in the Evc2 mutant mice. Taken together, our data uncover a novel pathogenic mechanism to understand limb dwarfism in patients with Ellis-van Creveld syndrome.

  15. Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice.

    Directory of Open Access Journals (Sweden)

    Honghao Zhang

    2016-12-01

    Full Text Available Ellis-van Creveld (EvC syndrome is a skeletal dysplasia, characterized by short limbs, postaxial polydactyly, and dental abnormalities. EvC syndrome is also categorized as a ciliopathy because of ciliary localization of proteins encoded by the two causative genes, EVC and EVC2 (aka LIMBIN. While recent studies demonstrated important roles for EVC/EVC2 in Hedgehog signaling, there is still little known about the pathophysiological mechanisms underlying the skeletal dysplasia features of EvC patients, and in particular why limb development is affected, but not other aspects of organogenesis that also require Hedgehog signaling. In this report, we comprehensively analyze limb skeletogenesis in Evc2 mutant mice and in cell and tissue cultures derived from these mice. Both in vivo and in vitro data demonstrate elevated Fibroblast Growth Factor (FGF signaling in Evc2 mutant growth plates, in addition to compromised but not abrogated Hedgehog-PTHrP feedback loop. Elevation of FGF signaling, mainly due to increased Fgf18 expression upon inactivation of Evc2 in the perichondrium, critically contributes to the pathogenesis of limb dwarfism. The limb dwarfism phenotype is partially rescued by inactivation of one allele of Fgf18 in the Evc2 mutant mice. Taken together, our data uncover a novel pathogenic mechanism to understand limb dwarfism in patients with Ellis-van Creveld syndrome.

  16. Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II).

    Science.gov (United States)

    Kılıç, Esra; Utine, Eda; Unal, Sule; Haliloğlu, Göknur; Oğuz, Kader Karli; Cetin, Mualla; Boduroğlu, Koray; Alanay, Yasemin

    2012-10-01

    We report an infant diagnosed with Majewski osteodysplastic primordial dwarfism type II at age 8 months, who experienced cerebrovascular morbidities related to this entity. Molecular analysis identified c.2609+1 G>A, intron 14, homozygous splice site mutation in the pericentrin gene. At age 18 months, she developed recurrent strokes and hemiparesis. Brain magnetic resonance imaging and magnetic resonance angiography showed abnormal gyral pattern, cortical acute infarcts, bilateral stenosis of the internal carotid arteries and reduced flow on the cerebral arteries, consistent with moyamoya disease. In Majewski osteodysplastic primordial dwarfism type II, life expectancy is reduced because of high risk of stroke secondary to cerebral vascular anomalies (aneurysms, moyamoya disease). Periodic screening for vascular events is recommended in individuals with Majewski osteodysplastic primordial dwarfism type II every 12-18 months following diagnosis. Our patient was medically managed with low molecular weight heparin followed with aspirin prophylaxis, in addition to carbamazepine and physical rehabilitation. We report an infant with moyamoya disease and recurrent stroke presenting 10 months after diagnosis (at age 18 months), and discuss the outcome of nonsurgical medical management. The presented case is the second youngest case developing stroke and moyamoya disease.

  17. Trabecular bone microarchitecture analysis, a way for an early detection of genetic dwarfism? Case study of a dwarf mother's offspring.

    Science.gov (United States)

    Colombo, Antony; Hoogland, Menno; Coqueugniot, Hélène; Dutour, Olivier; Waters-Rist, Andrea

    2018-03-01

    A 66 year-old woman with a disproportionate dwarfism and who bore seven children was discovered at the Middenbeemster archaeological site (The Netherlands). Three are perinates and show no macroscopic or radiological evidence for a FGFR3 mutation causing hypo-or achondroplasia. This mutation induces dysfunction of the growth cartilage, leading to abnormalities in the development of trabecular bone. Because the mutation is autosomal dominant, these perinates have a 50% risk of having been affected. This study determines whether trabecular bone microarchitecture (TBMA) analysis is useful for detecting genetic dwarfism. Proximal metaphyses of humeri were μCT-scanned with a resolution of 7-12 μm. Three volumes of interest were segmented from each bone with TIVMI© software. The TBMA was quantified in BoneJ© using six parameters on which a multivariate analysis was then performed. Two of the Middenbeemster perinates show a quantitatively different TBMA organization. These results and the family's medical history suggest a diagnosis of genetic dwarfism for this two perinates. This study provides evidence to support the efficacy of μCT for diagnosing early-stage bone disease. Copyright © 2017 Elsevier Inc. All rights reserved.

  18. Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice

    Science.gov (United States)

    Zhang, Honghao; Kamiya, Nobuhiro; Tsuji, Takehito; Takeda, Haruko; Scott, Greg; Ray, Manas K.; Mochida, Yoshiyuki; Lefebvre, Veronique; Hung, Irene H.; Kunieda, Tetsuo; Mishina, Yuji

    2016-01-01

    Ellis-van Creveld (EvC) syndrome is a skeletal dysplasia, characterized by short limbs, postaxial polydactyly, and dental abnormalities. EvC syndrome is also categorized as a ciliopathy because of ciliary localization of proteins encoded by the two causative genes, EVC and EVC2 (aka LIMBIN). While recent studies demonstrated important roles for EVC/EVC2 in Hedgehog signaling, there is still little known about the pathophysiological mechanisms underlying the skeletal dysplasia features of EvC patients, and in particular why limb development is affected, but not other aspects of organogenesis that also require Hedgehog signaling. In this report, we comprehensively analyze limb skeletogenesis in Evc2 mutant mice and in cell and tissue cultures derived from these mice. Both in vivo and in vitro data demonstrate elevated Fibroblast Growth Factor (FGF) signaling in Evc2 mutant growth plates, in addition to compromised but not abrogated Hedgehog-PTHrP feedback loop. Elevation of FGF signaling, mainly due to increased Fgf18 expression upon inactivation of Evc2 in the perichondrium, critically contributes to the pathogenesis of limb dwarfism. The limb dwarfism phenotype is partially rescued by inactivation of one allele of Fgf18 in the Evc2 mutant mice. Taken together, our data uncover a novel pathogenic mechanism to understand limb dwarfism in patients with Ellis-van Creveld syndrome. PMID:28027321

  19. Trophic and neurotrophic factors in human pituitary adenomas (Review).

    Science.gov (United States)

    Spoletini, Marialuisa; Taurone, Samanta; Tombolini, Mario; Minni, Antonio; Altissimi, Giancarlo; Wierzbicki, Venceslao; Giangaspero, Felice; Parnigotto, Pier Paolo; Artico, Marco; Bardella, Lia; Agostinelli, Enzo; Pastore, Francesco Saverio

    2017-10-01

    The pituitary gland is an organ that functionally connects the hypothalamus with the peripheral organs. The pituitary gland is an important regulator of body homeostasis during development, stress, and other processes. Pituitary adenomas are a group of tumors arising from the pituitary gland: they may be subdivided in functional or non-functional, depending on their hormonal activity. Some trophic and neurotrophic factors seem to play a key role in the development and maintenance of the pituitary function and in the regulation of hypothalamo-pituitary-adrenocortical axis activity. Several lines of evidence suggest that trophic and neurotrophic factors may be involved in pituitary function, thus suggesting a possible role of the trophic and neurotrophic factors in the normal development of pituitary gland and in the progression of pituitary adenomas. Additional studies might be necessary to better explain the biological role of these molecules in the development and progression of this type of tumor. In this review, in light of the available literature, data on the following neurotrophic factors are discussed: ciliary neurotrophic factor (CNTF), transforming growth factors β (TGF‑β), glial cell line-derived neurotrophic factor (GDNF), nerve growth factor (NGF), vascular endothelial growth factor (VEGF), vascular endothelial growth inhibitor (VEGI), fibroblast growth factors (FGFs) and epidermal growth factor (EGF) which influence the proliferation and growth of pituitary adenomas.

  20. Altered Pituitary Gland Structure and Function in Posttraumatic Stress Disorder.

    Science.gov (United States)

    Cooper, Odelia; Bonert, Vivien; Moser, Franklin; Mirocha, James; Melmed, Shlomo

    2017-06-01

    Posttraumatic stress disorder (PTSD) is associated with hypothalamus-pituitary-adrenal (HPA) axis response to stressors, but links to neurophysiological and neuroanatomical changes are unclear. The purpose of this study was to determine whether stress-induced cortisol alters negative feedback on pituitary corticotroph function and pituitary volume. Prospective controlled study in an outpatient clinic. Subjects with PTSD and matched control subjects underwent pituitary volume measurement on magnetic resonance imaging, with pituitary function assessed by 24-hour urine free cortisol (UFC), 8:00 am cortisol, and adrenocorticotropic hormone (ACTH) levels, and ACTH levels after 2-day dexamethasone/corticotropin-releasing hormone test. Primary outcome was pituitary volume; secondary outcomes were ACTH area under the curve (AUC) and 24-hour UFC. Thirty-nine subjects were screened and 10 subjects with PTSD were matched with 10 healthy control subjects by sex and age. Mean pituitary volume was 729.7 mm 3 [standard deviation (SD), 227.3 mm 3 ] in PTSD subjects vs 835.2 mm 3 (SD, 302.8 mm 3 ) in control subjects. ACTH AUC was 262.5 pg/mL (SD, 133.3 pg/mL) L in PTSD vs 244.0 pg/mL (SD, 158.3 pg/mL) in control subjects ( P = 0.80). In PTSD subjects, UFC levels and pituitary volume inversely correlated with PTSD duration; pituitary volume correlated with ACTH AUC in control subjects (Pearson correlation coefficient, 0.88, P = 0.0009) but not in PTSD subjects. The HPA axis may be downregulated and dysregulated in people with PTSD, as demonstrated by discordant pituitary corticotroph function and pituitary volume vs intact HPA feedback and correlation of pituitary volume with ACTH levels in healthy control subjects. The results suggest a link between pituitary structure and function in PTSD, which may point to endocrine targeted therapeutic approaches.

  1. Altered Pituitary Gland Structure and Function in Posttraumatic Stress Disorder

    Science.gov (United States)

    Bonert, Vivien; Moser, Franklin; Mirocha, James; Melmed, Shlomo

    2017-01-01

    Objectives: Posttraumatic stress disorder (PTSD) is associated with hypothalamus-pituitary-adrenal (HPA) axis response to stressors, but links to neurophysiological and neuroanatomical changes are unclear. The purpose of this study was to determine whether stress-induced cortisol alters negative feedback on pituitary corticotroph function and pituitary volume. Design: Prospective controlled study in an outpatient clinic. Methods: Subjects with PTSD and matched control subjects underwent pituitary volume measurement on magnetic resonance imaging, with pituitary function assessed by 24-hour urine free cortisol (UFC), 8:00 am cortisol, and adrenocorticotropic hormone (ACTH) levels, and ACTH levels after 2-day dexamethasone/corticotropin-releasing hormone test. Primary outcome was pituitary volume; secondary outcomes were ACTH area under the curve (AUC) and 24-hour UFC. Results: Thirty-nine subjects were screened and 10 subjects with PTSD were matched with 10 healthy control subjects by sex and age. Mean pituitary volume was 729.7 mm3 [standard deviation (SD), 227.3 mm3] in PTSD subjects vs 835.2 mm3 (SD, 302.8 mm3) in control subjects. ACTH AUC was 262.5 pg/mL (SD, 133.3 pg/mL) L in PTSD vs 244.0 pg/mL (SD, 158.3 pg/mL) in control subjects (P = 0.80). In PTSD subjects, UFC levels and pituitary volume inversely correlated with PTSD duration; pituitary volume correlated with ACTH AUC in control subjects (Pearson correlation coefficient, 0.88, P = 0.0009) but not in PTSD subjects. Conclusions: The HPA axis may be downregulated and dysregulated in people with PTSD, as demonstrated by discordant pituitary corticotroph function and pituitary volume vs intact HPA feedback and correlation of pituitary volume with ACTH levels in healthy control subjects. The results suggest a link between pituitary structure and function in PTSD, which may point to endocrine targeted therapeutic approaches. PMID:29264511

  2. Progression of an Invasive ACTH Pituitary Macroadenoma with Cushing’s Disease to Pituitary Carcinoma

    Directory of Open Access Journals (Sweden)

    Clarissa Groberio Borba

    2015-01-01

    Full Text Available Pituitary carcinomas are very rare tumors that in most cases produce prolactin and adrenocorticotropic hormone (ACTH. It is a challenge to diagnosis of a pituitary carcinoma before disclosed symptomatic metastasis. We report the case of a female patient with Cushing’s disease who underwent three transsphenoidal surgeries, with pathological findings of common ACTH pituitary adenoma including Ki-67 expression <3%. She achieved hypocortisolism after the 3rd surgery although ACTH levels remained slightly elevated. The patient returned some time later with fast worsening of hypercortisolism. Magnetic resonance imaging showed clivus invasion, which led to a fourth surgery and radiation. This time, immunohistochemistry revealed strong Ki-67 (10% to 15% and p53 expression. Liver and lumbar spine metastases were found on workup. The patient died after few months due to lung infection. Pituitary carcinomas are rare, and the transformation of an ACTH-secreting pituitary adenoma into a carcinoma is exceptional. The difficulty of defining markers for the diagnosis of carcinoma, before metastasis diagnosis, in order to change the management of the disease, is a challenge.

  3. Atypical pituitary macroadenoma; a case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Tae Hee; Lee, Seoung Ro; Park, Dong Woo; Hahm, Chang Kok; Park, Choong Ki; Kim, Yong Su; Paik, Seung Sam; Hong, Eun Kyung [Hanyang Univ. College of Medicine, Seoul (Korea, Republic of)

    1996-01-01

    A 34-year-old man who for two months had experienced headaches and blurred vision showed a 6 x 5 x 4 cm-sized sellar and suprasellar mass with mainly cystic and partially solid portions on both brain CT and MRI. Peripheral, rim-like calcification of the cystic mass was clearly visible on non-enhanced CT and pituitary acidophil stem cell adenoma was confirmed. This is an immature neoplasm which is shown by immunohistochemical study and electromicrocopy to be derived from the common progenitor of growth hormone and prolactin cells. We recently encountered one case, involving unusual radiographic findings, in which pituitary macroadenoma mimicked craniopharyngioma, and we report the CT and MR findings of this tumor.

  4. CT of sella after pituitary surgery

    International Nuclear Information System (INIS)

    Frank, W.; Imhof, H.; Schratter, M.; Knosp, E.

    1986-01-01

    A CT control scan of 32 patients after transsphenoidal resection of a pituitary tumour revealed sellar contents of different density and varying extent. Additional criteria were used to differentiate the intrasellar structures (size, extent, shape, structure, contrast enhancement, bone changes). CT made the definite diagnosis in 6 patients with pituitary tumour recurrence. Hormonal measurements were superior to CT in identifying recurrent tumours in another 3 patients. It is concluded that hormonal methods should be used in evaluating patients after surgery of a hormone-producing tumour. However, CT is the most useful method in detecting tumour recurrence in patients with non-functioning adenomas, and, if an adequate technique is used (coronal scanning, iv-contrast), even clinical asymptomatic tumours can be identified. (orig.) [de

  5. Endoscopic surgery of pituitary adenomas. Historical overview

    Directory of Open Access Journals (Sweden)

    V N Azizyan

    2015-06-01

    Full Text Available Over the past century pituitary surgery has undergone multiple revolutions in surgical technique and technological advancements that have resulted in what is now recognized as modern transsphenoidal surgery. Although the procedure is well established in the current neurosurgical literature, the historical maze that led to its development continues to be of interest because it allows us to appreciate better the unique contributions made by the pioneers of the technique as well as the innovative spirit that continues to fuel neurosurgery.

  6. The result of radiotherapy for pituitary adenoma

    International Nuclear Information System (INIS)

    Lee, H. J.; Yang, K. M.; Suh, S. H.

    1997-01-01

    To evaluate the prognostic factors for disease-free survival and long-term results of radiotherapy for pituitary adenoma. The study involved a retrospective review of outcome in a series of 27 patients with pituitary adenoma, between 1984 and 1995 at Paik hospital. The study included 20 patients treated with surgery and postoperative radiotherapy and 7 with radiotherapy alone. The patients were followed for 12-146 months (median: 97 months). Seventeen were men and 10 were women. The numbers of functioning and non-functioning pituitary adenoma were 22 and 5 respectively and those of microadenoma and macroadenoma were 4 and 23 respectively. The radiation doses of 5040-5580cGy(median: 5040cGy) were delivered over 5-7 weeks, using 4MV LINAC. The prognostic factors were analyzed by log-rank test. For radiation therapy alone, the 5 YSR was 100% and progression free survival rate was 85.8%. The tumor was controlled in 6/7 (85.8%). For surgery and postoperative radiotherapy , the 5YSR, progression free survival rate and local control rate were 95%, 84.8%, and 89.5% respectively. The parameters of tumor size, hormone secretion, radiation dose, radiotherapy field size were evaluated in a uni- and multivariate analysis and all the factors were not statistically significant (P>0.05). Eleven of 12 (92%) with visual field defect experienced normalization or improvement, and 5 for 7 evaluable patients with hyperprolactinoma achieved normalization in 4 and decrement in 5 patients. Only 2 patients developed mild degree of panhypopituitarism. The radiotherapy appears to be effective in controlling clinical symptoms and signs resulting from pituitary adenoma. Local control rate with radiotherapy alone or with surgery and postoperative radiotherapy was comparable. There was a trend toward high recurrence rate in patients with nonfunctioning or prolactin secreting tumor and larger radiation field sizes. (author)

  7. The result of radiotherapy for pituitary adenoma

    Energy Technology Data Exchange (ETDEWEB)

    Lee, H. J.; Yang, K. M.; Suh, S. H. [Inje Univ., Seoul (Korea, Republic of). Coll. of Medicine; Cho, H. L.; Shon, S. C. [Pusan Paik Hospital, Pusan (Korea, Republic of)

    1997-12-01

    To evaluate the prognostic factors for disease-free survival and long-term results of radiotherapy for pituitary adenoma. The study involved a retrospective review of outcome in a series of 27 patients with pituitary adenoma, between 1984 and 1995 at Paik hospital. The study included 20 patients treated with surgery and postoperative radiotherapy and 7 with radiotherapy alone. The patients were followed for 12-146 months (median: 97 months). Seventeen were men and 10 were women. The numbers of functioning and non-functioning pituitary adenoma were 22 and 5 respectively and those of microadenoma and macroadenoma were 4 and 23 respectively. The radiation doses of 5040-5580cGy(median: 5040cGy) were delivered over 5-7 weeks, using 4MV LINAC. The prognostic factors were analyzed by log-rank test. For radiation therapy alone, the 5 YSR was 100% and progression free survival rate was 85.8%. The tumor was controlled in 6/7 (85.8%). For surgery and postoperative radiotherapy , the 5YSR, progression free survival rate and local control rate were 95%, 84.8%, and 89.5% respectively. The parameters of tumor size, hormone secretion, radiation dose, radiotherapy field size were evaluated in a uni- and multivariate analysis and all the factors were not statistically significant (P>0.05). Eleven of 12 (92%) with visual field defect experienced normalization or improvement, and 5 for 7 evaluable patients with hyperprolactinoma achieved normalization in 4 and decrement in 5 patients. Only 2 patients developed mild degree of panhypopituitarism. The radiotherapy appears to be effective in controlling clinical symptoms and signs resulting from pituitary adenoma. Local control rate with radiotherapy alone or with surgery and postoperative radiotherapy was comparable. There was a trend toward high recurrence rate in patients with nonfunctioning or prolactin secreting tumor and larger radiation field sizes. (author).

  8. Pituitary apoplexy presenting as myocardial infarction

    Directory of Open Access Journals (Sweden)

    Vishal Gupta

    2014-01-01

    Full Text Available We describe a male patient who presented with sudden onset severe headache and right sided ptosis that was diagnosed to be secondary to pituitary apoplexy on the background of diabetes mellitus. This was complicated by left ventricular failure and acute coronary syndrome. The case highlights the importance of considering hypocortisolism/hypopituitarism as an important and rare precipitant of an acute coronary event as occurred in the case.

  9. Duplication of the pituitary gland - plus syndrome

    International Nuclear Information System (INIS)

    Sen, Debraj; Arora, Vijinder

    2016-01-01

    Duplication of the pituitary gland (DPG) is a very rare developmental anomaly that is often associated with other anomalies – the DPG-plus syndrome and occurs due to splitting of the rostral notochord and prechordal plate during blastogenesis. DPG with the constellation of associated anomalies as in our patient has not been reported previously. This article illustrates the importance of imaging the brain in all patients with obvious midline facial anomalies and the complementary role of MRI and CT in such cases

  10. Pituitary gland volumes in bipolar disorder.

    Science.gov (United States)

    Clark, Ian A; Mackay, Clare E; Goodwin, Guy M

    2014-12-01

    Bipolar disorder has been associated with increased Hypothalamic-Pituitary-Adrenal axis function. The mechanism is not well understood, but there may be associated increases in pituitary gland volume (PGV) and these small increases may be functionally significant. However, research investigating PGV in bipolar disorder reports mixed results. The aim of the current study was twofold. First, to assess PGV in two novel samples of patients with bipolar disorder and matched healthy controls. Second, to perform a meta-analysis comparing PGV across a larger sample of patients and matched controls. Sample 1 consisted of 23 established patients and 32 matched controls. Sample 2 consisted of 39 medication-naïve patients and 42 matched controls. PGV was measured on structural MRI scans. Seven further studies were identified comparing PGV between patients and matched controls (total n; 244 patients, 308 controls). Both novel samples showed a small (approximately 20mm(3) or 4%), but non-significant, increase in PGV in patients. Combining the two novel samples showed a significant association of age and PGV. Meta-analysis showed a trend towards a larger pituitary gland in patients (effect size: .23, CI: -.14, .59). While results suggest a possible small difference in pituitary gland volume between patients and matched controls, larger mega-analyses with sample sizes greater even than those used in the current meta-analysis are still required. There is a small but potentially functionally significant increase in PGV in patients with bipolar disorder compared to controls. Results demonstrate the difficulty of finding potentially important but small effects in functional brain disorders. Copyright © 2014 Elsevier B.V. All rights reserved.

  11. Pituitary-hormone secretion by thyrotropinomas

    OpenAIRE

    Roelfsema, Ferdinand; Kok, Simon; Kok, Petra; Pereira, Alberto M.; Biermasz, Nienke R.; Smit, Jan W.; Frolich, Marijke; Keenan, Daniel M.; Veldhuis, Johannes D.; Romijn, Johannes A.

    2008-01-01

    Hormone secretion by somatotropinomas, corticotropinomas and prolactinomas exhibits increased pulse frequency, basal and pulsatile secretion, accompanied by greater disorderliness. Increased concentrations of growth hormone (GH) or prolactin (PRL) are observed in about 30% of thyrotropinomas leading to acromegaly or disturbed sexual functions beyond thyrotropin (TSH)-induced hyperthyroidism. Regulation of non-TSH pituitary hormones in this context is not well understood. We there therefore ev...

  12. Autocrine IL-6 mediates pituitary tumor senescence

    Science.gov (United States)

    Fuertes, Mariana; Ajler, Pablo; Carrizo, Guillermo; Cervio, Andrés; Sevlever, Gustavo; Stalla, Günter K.; Arzt, Eduardo

    2017-01-01

    Cellular senescence is a stable proliferative arrest state. Pituitary adenomas are frequent and mostly benign, but the mechanism for this remains unknown. IL-6 is involved in pituitary tumor progression and is produced by the tumoral cells. In a cell autonomous fashion, IL-6 participates in oncogene-induced senescence in transduced human melanocytes. Here we prove that autocrine IL-6 participates in pituitary tumor senescence. Endogenous IL-6 inhibition in somatotroph MtT/S shRNA stable clones results in decreased SA-β-gal activity and p16INK4a but increased pRb, proliferation and invasion. Nude mice injected with IL-6 silenced clones develop tumors contrary to MtT/S wild type that do not, demonstrating that clones that escape senescence are capable of becoming tumorigenic. When endogenous IL-6 is silenced, cell cultures derived from positive SA-β-gal human tumor samples decrease the expression of the senescence marker. Our results establish that IL-6 contributes to maintain senescence by its autocrine action, providing a natural model of IL-6 mediated benign adenoma senescence. PMID:27902467

  13. Diabetes insipidus following resection of pituitary tumors.

    Science.gov (United States)

    Schreckinger, Matthew; Szerlip, Nicholas; Mittal, Sandeep

    2013-02-01

    Diabetes insipidus (DI) is a common complication following pituitary surgery and can be transient or permanent. Neurogenic DI occurs following injury to the magnocellular neurons in the hypothalamus that produce and transport arginine vasopressin (AVP) and form the hypothalamo-hypophyseal tract. DI is defined by a constellation of signs and symptoms resulting in dilute high-volume urine output and increasing serum osmolality. The body's inability to concentrate urine leaves the patient dehydrated and leads to metabolic abnormalities that can be life threatening if not recognized and treated in a timely manner with an exogenous AVP analog. The reported incidence of postsurgical central DI varies from 1 to 67%. This wide range likely reflects inconsistencies in the working definition of DI across the literature. Factors affecting the rate of DI include pituitary tumor size, adherence to surrounding structures, surgical approach, and histopathology of pituitary lesion. The likelihood of postoperative DI can be reduced by careful preservation of the neurovascular structures of the hypothalamus, infundibulum, and neurohypophysis. Vigilance and meticulous surgical technique are essential to minimize injury to these critical regions that can lead to postsurgical DI. Copyright © 2012 Elsevier B.V. All rights reserved.

  14. Fractionated proton beam irradiation of pituitary adenomas

    International Nuclear Information System (INIS)

    Ronson, Brian B.; Schulte, Reinhard W.; Han, Khanh P.; Loredo, Lilia N.; Slater, James M.; Slater, Jerry D.

    2006-01-01

    Purpose: Various radiation techniques and modalities have been used to treat pituitary adenomas. This report details our experience with proton treatment of these tumors. Methods and Materials: Forty-seven patients with pituitary adenomas treated with protons, who had at least 6 months of follow-up, were included in this analysis. Forty-two patients underwent a prior surgical resection; 5 were treated with primary radiation. Approximately half the tumors were functional. The median dose was 54 cobalt-gray equivalent. Results: Tumor stabilization occurred in all 41 patients available for follow-up imaging; 10 patients had no residual tumor, and 3 had greater than 50% reduction in tumor size. Seventeen patients with functional adenomas had normalized or decreased hormone levels; progression occurred in 3 patients. Six patients have died; 2 deaths were attributed to functional progression. Complications included temporal lobe necrosis in 1 patient, new significant visual deficits in 3 patients, and incident hypopituitarism in 11 patients. Conclusion: Fractionated conformal proton-beam irradiation achieved effective radiologic, endocrinological, and symptomatic control of pituitary adenomas. Significant morbidity was uncommon, with the exception of postradiation hypopituitarism, which we attribute in part to concomitant risk factors for hypopituitarism present in our patient population

  15. Stem cell therapy and its potential role in pituitary disorders.

    Science.gov (United States)

    Lara-Velazquez, Montserrat; Akinduro, Oluwaseun O; Reimer, Ronald; Woodmansee, Whitney W; Quinones-Hinojosa, Alfredo

    2017-08-01

    The pituitary gland is one of the key components of the endocrine system. Congenital or acquired alterations can mediate destruction of cells in the gland leading to hormonal dysfunction. Even though pharmacological treatment for pituitary disorders is available, exogenous hormone replacement is neither curative nor sustainable. Thus, alternative therapies to optimize management and improve quality of life are desired. An alternative modality to re-establish pituitary function is to promote endocrine cell regeneration through stem cells that can be obtained from the pituitary parenchyma or pluripotent cells. Stem cell therapy has been successfully applied to a plethora of other disorders, and is a promising alternative to hormonal supplementation for resumption of normal hormone homeostasis. In this review, we describe the common causes for pituitary deficiencies and the advances in cellular therapy to restore the physiological pituitary function.

  16. Pituitary adenoma with adipose tissue: A new metaplastic variant.

    Science.gov (United States)

    Caporalini, Chiara; Buccoliero, Anna Maria; Pansini, Luigi; Moscardi, Selene; Novelli, Luca; Baroni, Gianna; Bordi, Lorenzo; Ammannati, Franco; Taddei, Gian Luigi

    2017-08-01

    Pituitary adenomas are benign tumors representing approximately 15-20% of intracranial neoplasms. There have been few reports of metaplastic osseous transformation and about 60 cases of neuronal metaplasia in pituitary adenoma but adipose metaplasia has not been previously described in the English literature. Here we report a case of pituitary adenoma with metaplastic adipose tissue in a 58-year-old male patient. Histologically this case fulfilled the criteria of a non-functioning pituitary adenoma, and moreover a central area of adipose tissue, made by mature adipocytes, and many tumor cells, containing fat droplet were evident. Lipomatous transformation of tumor cells in the CNS has been previously observed but, to the best of our knowledge, our case is the first pituitary adenoma with such change. The histogenesis of the adipose element in pituitary adenoma is not well understood, and could be a result of a metaplastic change or divergent differentiation from a common progenitor cell. © 2017 Japanese Society of Neuropathology.

  17. Pituitary fossa: a correlative anatomic and MR study

    International Nuclear Information System (INIS)

    Mark, L.; Pech, P.; Daniels, D.; Charles, C.; Williams, A.; Haughton, V.

    1984-01-01

    This study characterizes the normal appearance of the pituitary fossa in partial saturation magnetic resonance (MR) images. In sagittal images, the pituitary fossa appears inhomogeneous. Correlation of sagittal MR images in normal subjects with sagittal cryomicrotomic images in cadavers suggests that the highest intensity signal from the posterior-inferior pituitary fossa is due to a fat pad. This conclusion was supported by MR images and postmortem cryotome sections obtained in normal subhuman primates

  18. Astrocytoma of the pituitary gland (pituicytoma): case report

    International Nuclear Information System (INIS)

    Uesaka, T.; Miyazono, M.; Nishio, S.; Iwaki, T.

    2002-01-01

    A 34-year-old man presented with a 4-month history of visual obscuration. Magnetic resonance imaging showed a solid, discrete, contrast-enhancing pituitary mass with suprasellar extension. Surgery, which was performed via a transsphenoidal approach, disclosed the pituitary tumor to be a fibrillary astrocytoma (pituicytoma). This case report contains the clinical and neuroimaging features of this rare tumor of the neurohypophysis, which masqueraded as a pituitary adenoma. (orig.)

  19. Plurihormonal cells of normal anterior pituitary: Facts and conclusions

    OpenAIRE

    Mitrofanova, Lubov B.; Konovalov, Petr V.; Krylova, Julia S.; Polyakova, Victoria O.; Kvetnoy, Igor M.

    2017-01-01

    Introduction plurihormonality of pituitary adenomas is an ability of adenoma cells to produce more than one hormone. After the immunohistochemical analysis had become a routine part of the morphological study, a great number of adenomas appeared to be multihormonal in actual practice. We hypothesize that the same cells of a normal pituitary gland releases several hormones simultaneously. Objective To analyse a possible co-expression of hormones by the cells of the normal anterior pituitary of...

  20. Evaluation of pituitary lesions on magnetic resonance imaging

    International Nuclear Information System (INIS)

    Sakurai, Takashi; Sakamoto, Tatsuo; Sekino, Hiroaki; Inada, Yoichi; Ishikawa, Toru; Sato, Mitsuya

    1994-01-01

    We evaluated the magnetic resonance imaging (MRI) of seventeen patients with pituitary adenomas (10 cases of prolactin secreting ; 2, growth hormone secreting and 5, non-functioning adenomas) and three patients with pituitary enlargement due to hypothyroidism. The volume of the functional adenomas or the enlarged pituitary glands correlated by MRI correlated with the level of serum pituitary hormone. We evaluated the points of differences on the T 1 weighted images of MRI between microadenomas and pituitary enlargements. The microadenomas appeared as the enlarged pituitary gland with isointensity area, but following administration of Gd-DTPA, the adenomas were recognized as a low intensity area (mass) with in an enhanced high intensity area of the normal gland with a shift of the pituitary stalk. On the other hand, the pituitary enlargements appeared as a large iso intensity area on T 1 weighted images, and were homogeneously enhanced as a high intensity area after Gd-DTPA administration, but without a shift of the pituitary stalk. Signal intensity ratios (SIR) and contrast enhancement ratios (CER) of all cases with pituitary adenomas were calculated using MRI. Differences in SIR and CER could not be demonstrated among the hormone-secreting adenomas. Thus, it is difficult to differentiate the various types of adenomas by using the differences in SIR or CER, since there are many, interfering factors, including hemorrhage, cyst, and necrosis. Postoperative permanent diabetes insipidus (DI) appeared in the cases that had no visualization of posterior high signal intensity area and a tumoral mass effect on the hypothalamus on preoperative MRI. The reason for postoperative permanent DI is thought to be the result of a disturbance of blood circulation in the pituitary gland due to a mass effect and surgical burden to the proximal pituitary stalk or the hypothalamus. (author)

  1. Pituitary oncocytoma presenting as Cushing′s disease

    Directory of Open Access Journals (Sweden)

    M K Garg

    2013-01-01

    Full Text Available A 19-year-old girl presented with classical features of Cushing′s syndrome. Endocrinal evaluation was consistent with pituitary source of ACTH; but imaging showed normal pituitary. Bilateral inferior petrosal sinus sampling confirmed the diagnosis. A successful remission was achieved after adenomectomy by transphenoidal route. Histopathological examination was consistent with pituitary oncocytoma and immunohistochemistry was positive for synaptophysin, chromogranin, neuron specific enolase, S-100, ACTH, prolactin, and GH.

  2. Epistaxis and pituitary apoplexy due to ruptured internal carotid artery aneurysm embedded within pituitary adenoma.

    Science.gov (United States)

    Peng, Zesheng; Tian, Daofeng; Wang, Hongliu; Kong, Derek Kai; Zhang, Shenqi; Liu, Baohui; Deng, Gang; Xu, Zhou; Wu, Liquan; Ji, Baowei; Wang, Long; Cai, Qiang; Li, Mingchang; Wang, Junmin; Zhang, Aimin; Chen, Qianxue

    2015-01-01

    Epistaxis due to ruptured internal carotid artery (ICA) aneurysm embedded within a pituitary adenoma (PA) has seldom been reported in the literature. Here we want to elaborate the incidence, mechanisms, clinical manifestations, and treatment strategy for this condition. The first survived case of a patient with epistaxis and pituitary apoplexy due to ruptured aneurysm embedded within PA was reported and the literature was reviewed. A 53-year-old male patient presented to our institution with sudden onset epistaxis and progressive vision loss. Neurological examination revealed bilateral ptosis and dilated unresponsive pupils. A CT scan showed a large mass in the pituitary fossa with bony erosion. MRI revealed a large pituitary tumor and abnormal signal intensity in the tumor. No aneurysm was noted during the pre-operative MR angiography. Abundant arterial bleeding suddenly occurred during urgent transsphenoidal surgery. Digital subtraction angiography confirmed the presence of a 14 mm unexpected saccular aneurysm of right ICA in the cavernous sinus with the dome protruding into the sella turcica. Balloon test occlusion of the right ICA was undertaken and permanent occlusion was performed. The patient recovered well and received bromocriptine and thyroid hormone replacement therapy during the follow-up period. At 14-month followup, the patient had no neurological deficits, no features of ischaemia relating to the right ICA therapeutic occlusion. Our case indicated that epistaxis and pituitary apoplexy could be due to the rupture of an ICA aneurysm embedded in a PA. Clinical suspicion should remain high when evaluating any case of epistaxis and pituitary apoplexy. Optimal treatment should take into consideration individual features of the tumor, aneurysm, and patient. Making the correct diagnosis as well as identifying an appropriate management strategy is critical in the care of such patients.

  3. Magnetic resonance imaging of normal pituitary gland

    International Nuclear Information System (INIS)

    Yamanaka, Masami; Uozumi, Tohru; Sakoda, Katsuaki; Ohta, Masahiro; Kagawa, Yoshihiro; Kajima, Toshio.

    1986-01-01

    Magnetic resonance imaging (MRI) is a suitable procedure for diagnosing such midline-positioned lesions as pituitary adenomas. To differentiate them from microadenomas fifty-seven cases (9 - 74 years old, 29 men and 28 women), including 50 patients without any sellar or parasellar diseases and seven normal volunteers, were studied in order to clarify the MR findings of the shape, height, and signal intensity of the normal pituitary gland, especially at the median sagittal section. The height of a normal pituitary gland varied from 2 to 9 mm (mean: 5.7 mm); the upper surface of the gland was convex in 19.3 %, flat in 49.1 %, and concave in 31.6 %. The mean height of the gland in women in their twenties was 7.5 mm, and the upper convex shape appeared exclusively in women of the second to fourth decades. Nine intrasellar pituitary adenomas (PRL-secreting: 4, GH-secreting: 4, ACTH-secreting: 1), all verified by surgery, were diagnosed using a resistive MR system. The heights of the gland in these cases were from 7 to 15 mm (mean: 11.3 mm); the upper surface was convex in 7 cases. A localized bulging of the upper surface of the gland and a localized depression of the sellar floor were depicted on the coronal and sagittal sections in most cases. Although the GH- and ACTH-secreting adenoma cases showed homogeneous intrasellar contents, in all the PRL-secreting adenoma cases a low-signal-intensity area was detected in the IR images. The mean T1 values of the intrasellar content of the normal volunteers, the PRL-, GH-, and ACTH-secreting adenoma cases, were 367, 416, 355, and 411 ms respectively. However, in the PRL-secreting adenoma cases, the mean T1 value of the areas showing a low signal intensity on IR images was 455 ms; this was a significant prolongation in comparison with that of a normal pituitary gland. (J.P.N.)

  4. Transsphenoidal Surgery for Pituitary Tumors and Other Sellar Masses.

    Science.gov (United States)

    Owen, Tina J; Martin, Linda G; Chen, Annie V

    2018-01-01

    Transsphenoidal surgery is an option for dogs and cats with functional and nonfunctional pituitary masses or other sellar and parasellar masses. An adrenocorticotropic hormone-secreting tumor causing Cushing disease is the most common clinically relevant pituitary tumor in dogs, and the most common pituitary tumor seen in cats is a growth hormone-secreting tumor causing acromegaly. Transsphenoidal surgery can lead to rapid resolution of clinical signs and provide a cure for these patients. Because of the risks associated with this surgery, it should only be attempted by a cohesive pituitary surgery group with a sophisticated medical and surgical team. Copyright © 2017 Elsevier Inc. All rights reserved.

  5. Aspergillosis of the sphenoid sinus simulating a pituitary tumor

    Energy Technology Data Exchange (ETDEWEB)

    Larranaga, J.; Fandino, J.; Gomez-Bueno, J.; Botana, C.; Rodriguez, D.; Gonzalez-Carrero, J.

    1989-09-01

    Sphenoidal aspergillosis is an unusual cause of sella turcica enlargement. Pituitary abscess secondary to Aspergillus had been reported. In the present case, a woman with sphenoid sinus aspergillosis mimiced a pituitary tumor. This patient survived her infection with intact pituitary function following a transsphenoidal approach. No postoperative amphotericine-B and 5-fluorocytosine were necessary. CT scan revealed a mass occupying the sphenoid sinus extending to the sella turcica. Factors that should alert the clinican to the presence of a sphenoidal and pituitary abscess in a patient with sella turcica enlargement are prior episodes of sinusitis, meningitis and immunosuppression and, as in the present case, hyperglycemia. (orig.).

  6. Spontaneous regression of pituitary mass in temporal association with pregnancy

    Energy Technology Data Exchange (ETDEWEB)

    Ikeda, H.; Okudaira, Y.

    1987-09-01

    We have encountered a case of a pituitary mass which emerged and enlarged during pregnancy in a 29-year-old woman. On CT scanning the mass disappeared over the course of four months postpartum and was followed by pituitary hypofunction. The hypofunction was restricted to ACTH, GH, and PRL. The visual field defects, bitemporal hemianopsia, disappeared with disappearance of the pituitary mass on CT scanning, indicating that such deficits during this period were reversible. Based on the clinical course and laboratory data, this case is thought to have been lymphocytic adenohypophysitis. It was concluded that among pituitary tumors developing during pregnancy there are some such cases which do not require surgical therapy.

  7. MRI of the hypothalamic-pituitary axis in children

    International Nuclear Information System (INIS)

    Argyropoulou, Maria I.; Kiortsis, Dimitrios Nikiforos

    2005-01-01

    In childhood, the MR characteristics of the normal pituitary gland are well established. During the first 2 months of life the adenohypophysis demonstrates high signal. Pituitary gland height (PGH) decreases during the 1st year of life and then increases, reaching a plateau after puberty. The magnetization transfer ratio (MTR) increases in both sexes up to the age of 20 years. On dynamic contrast-enhanced studies, the posterior pituitary lobe enhances simultaneously with the straight sinus, and the adenohypophysis later, but within 30 s. In genetically determined dysfunctional states, the adenohypophysis may be normal, hypoplastic, or enlarged. Pituitary enlargement, observed in Prop 1 gene mutations, is characterized by a mass interposed between the anterior and posterior lobes. An ectopic posterior lobe (EPP), associated with a hypoplastic or absent pituitary stalk, may be observed in patients with hypopituitarism. Tumors of the hypothalamic-pituitary (HP) axis may be the origin of adenohypophyseal deficiencies. A small hypointense adenohypophysis is found in iron overload states and is often associated with hypogonadotrophic hypogonadism. Absence of the posterior lobe bright signal, with or without a thick pituitary stalk or a mass at any site from the median eminence to the posterior pituitary lobe, may be found in diabetes insipidus. Hydrocephalus, suprasellar arachnoid cysts, hypothalamic hamartomas and craniopharyngiomas may result in central precocious puberty (CPP). Increased PGH in girls with idiopathic CPP is useful for its differential diagnosis from premature thelarche (PT). Pituitary adenomas, observed mainly in adolescents, present the same MR characteristics as those in adults. (orig.)

  8. MRI of the hypothalamic-pituitary axis in children

    Energy Technology Data Exchange (ETDEWEB)

    Argyropoulou, Maria I. [University of Ioannina, Department of Radiology, Medical School, Ioannina (Greece); Kiortsis, Dimitrios Nikiforos [University of Ioannina, Department of Physiology, Medical School, Ioannina (Greece)

    2005-11-01

    In childhood, the MR characteristics of the normal pituitary gland are well established. During the first 2 months of life the adenohypophysis demonstrates high signal. Pituitary gland height (PGH) decreases during the 1st year of life and then increases, reaching a plateau after puberty. The magnetization transfer ratio (MTR) increases in both sexes up to the age of 20 years. On dynamic contrast-enhanced studies, the posterior pituitary lobe enhances simultaneously with the straight sinus, and the adenohypophysis later, but within 30 s. In genetically determined dysfunctional states, the adenohypophysis may be normal, hypoplastic, or enlarged. Pituitary enlargement, observed in Prop 1 gene mutations, is characterized by a mass interposed between the anterior and posterior lobes. An ectopic posterior lobe (EPP), associated with a hypoplastic or absent pituitary stalk, may be observed in patients with hypopituitarism. Tumors of the hypothalamic-pituitary (HP) axis may be the origin of adenohypophyseal deficiencies. A small hypointense adenohypophysis is found in iron overload states and is often associated with hypogonadotrophic hypogonadism. Absence of the posterior lobe bright signal, with or without a thick pituitary stalk or a mass at any site from the median eminence to the posterior pituitary lobe, may be found in diabetes insipidus. Hydrocephalus, suprasellar arachnoid cysts, hypothalamic hamartomas and craniopharyngiomas may result in central precocious puberty (CPP). Increased PGH in girls with idiopathic CPP is useful for its differential diagnosis from premature thelarche (PT). Pituitary adenomas, observed mainly in adolescents, present the same MR characteristics as those in adults. (orig.)

  9. Dwarfism and feeding behaviours in Oligo–Miocene crocodiles from Riversleigh, northwestern Queensland, Australia

    Directory of Open Access Journals (Sweden)

    Michael Stein

    2016-02-01

    Full Text Available Instances of dwarfism in the fossil record are of interest to palaeontologists because they often provide insight into aspects of palaeoecology. Fossil species of Australian-Pacific mekosuchine genus Mekosuchus have been described as dwarf, primarily terrestrial crocodiles, in contrast with the nearly ubiquitous semi-aquatic habitus of extant crocodilians (Willis 1997. This hypothesis has been difficult to test because of limited knowledge of the cranial and postcranial skeleton of extinct taxa and the continuous nature of crocodilian growth. New crocodilian vertebral material from Riversleigh, northwestern Queensland, tentatively referred to Mekosuchus whitehunterensis Willis, 1997, displays morphological maturity indicative of adult snout-vent length little over a half-meter, proportionally smaller than extant dwarf taxa. Further, this material displays morphology that indicates a relatively large epaxial neck musculature for its body-size. These attributes suggest this dwarf mekosuchine employed unusual feeding behaviours. The ability to perform normal death-roll, de-fleshing behaviours would be limited in a mekosuchine of such small size. Given the powerful neck muscles and other anatomical features, it is more likely that this mekosuchine killed and/or dismembered its prey using a relatively forceful lifting and shaking of the head.

  10. Smad6/Smurf1 overexpression in cartilage delays chondrocyte hypertrophy and causes dwarfism with osteopenia

    Science.gov (United States)

    Horiki, Mitsuru; Imamura, Takeshi; Okamoto, Mina; Hayashi, Makoto; Murai, Junko; Myoui, Akira; Ochi, Takahiro; Miyazono, Kohei; Yoshikawa, Hideki; Tsumaki, Noriyuki

    2004-01-01

    Biochemical experiments have shown that Smad6 and Smad ubiquitin regulatory factor 1 (Smurf1) block the signal transduction of bone morphogenetic proteins (BMPs). However, their in vivo functions are largely unknown. Here, we generated transgenic mice overexpressing Smad6 in chondrocytes. Smad6 transgenic mice showed postnatal dwarfism with osteopenia and inhibition of Smad1/5/8 phosphorylation in chondrocytes. Endochondral ossification during development in these mice was associated with almost normal chondrocyte proliferation, significantly delayed chondrocyte hypertrophy, and thin trabecular bone. The reduced population of hypertrophic chondrocytes after birth seemed to be related to impaired bone growth and formation. Organ culture of cartilage rudiments showed that chondrocyte hypertrophy induced by BMP2 was inhibited in cartilage prepared from Smad6 transgenic mice. We then generated transgenic mice overexpressing Smurf1 in chondrocytes. Abnormalities were undetectable in Smurf1 transgenic mice. Mating Smad6 and Smurf1 transgenic mice produced double-transgenic pups with more delayed endochondral ossification than Smad6 transgenic mice. These results provided evidence that Smurf1 supports Smad6 function in vivo. PMID:15123739

  11. Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.

    Science.gov (United States)

    Juric-Sekhar, Gordana; Kapur, Raj P; Glass, Ian A; Murray, Mitzi L; Parnell, Shawn E; Hevner, Robert F

    2011-04-01

    Microcephalic osteodysplastic primordial dwarfism (MOPD) is a rare microlissencephaly syndrome, with at least two distinct phenotypic and genetic types. MOPD type II is caused by pericentrin mutations, while types I and III appear to represent a distinct entity (MOPD I/III) with variably penetrant phenotypes and unknown genetic basis. The neuropathology of MOPD I/III is little understood, especially in comparison to other forms of lissencephaly. Here, we report postmortem brain findings in an 11-month-old female infant with MOPD I/III. The cerebral cortex was diffusely pachygyric, with a right parietal porencephalic lesion. Histologically, the cortex was abnormally thick and disorganized. Distinct malformations were observed in different cerebral lobes, as characterized using layer-specific neuronal markers. Frontal cortex was severely disorganized and coated with extensive leptomeningeal glioneuronal heterotopia. Temporal cortex had a relatively normal 6-layered pattern, despite cortical thickening. Occipital cortex was variably affected. The corpus callosum was extremely hypoplastic. Brainstem and cerebellar malformations were also present, as well as old necrotic foci. Findings in this case suggest that the cortical malformation in MOPD I/III is distinct from other forms of pachygyria-lissencephaly.

  12. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.

    Science.gov (United States)

    Shaheen, Ranad; Faqeih, Eissa; Shamseldin, Hanan E; Noche, Ramil R; Sunker, Asma; Alshammari, Muneera J; Al-Sheddi, Tarfa; Adly, Nouran; Al-Dosari, Mohammed S; Megason, Sean G; Al-Husain, Muneera; Al-Mohanna, Futwan; Alkuraya, Fowzan S

    2012-08-10

    Primordial dwarfism (PD) is a phenotype characterized by profound growth retardation that is prenatal in onset. Significant strides have been made in the last few years toward improved understanding of the molecular underpinning of the limited growth that characterizes the embryonic and postnatal development of PD individuals. These include impaired mitotic mechanics, abnormal IGF2 expression, perturbed DNA-damage response, defective spliceosomal machinery, and abnormal replication licensing. In three families affected by a distinct form of PD, we identified a founder truncating mutation in POC1A. This gene is one of two vertebrate paralogs of POC1, which encodes one of the most abundant proteins in the Chlamydomonas centriole proteome. Cells derived from the index individual have abnormal mitotic mechanics with multipolar spindles, in addition to clearly impaired ciliogenesis. siRNA knockdown of POC1A in fibroblast cells recapitulates this ciliogenesis defect. Our findings highlight a human ciliopathy syndrome caused by deficiency of a major centriolar protein. Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  13. Small body size and extreme cortical bone remodeling indicate phyletic dwarfism in Magyarosaurus dacus (Sauropoda: Titanosauria).

    Science.gov (United States)

    Stein, Koen; Csiki, Zoltan; Rogers, Kristina Curry; Weishampel, David B; Redelstorff, Ragna; Carballido, Jose L; Sander, P Martin

    2010-05-18

    Sauropods were the largest terrestrial tetrapods (>10(5) kg) in Earth's history and grew at rates that rival those of extant mammals. Magyarosaurus dacus, a titanosaurian sauropod from the Upper Cretaceous (Maastrichtian) of Romania, is known exclusively from small individuals (dwarfism (phyletic nanism) in dinosaurs, but a recent study suggested that the small Romanian titanosaurs actually represent juveniles of a larger-bodied taxon. Here we present strong histological evidence that M. dacus was indeed a dwarf (phyletic nanoid). Bone histological analysis of an ontogenetic series of Magyarosaurus limb bones indicates that even the smallest Magyarosaurus specimens exhibit a bone microstructure identical to fully mature or old individuals of other sauropod taxa. Comparison of histologies with large-bodied sauropods suggests that Magyarosaurus had an extremely reduced growth rate, but had retained high basal metabolic rates typical for sauropods. The uniquely decreased growth rate and diminutive body size in Magyarosaurus were adaptations to life on a Cretaceous island and show that sauropod dinosaurs were not exempt from general ecological principles limiting body size.

  14. Selection of male-sterile and dwarfism genetically modified zoysia japonica through gamma irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Bae, Tae Woong; Song, In Ja; Kang, Hong Gyu; Jeong, Ok Cheol; Sun, Hyeon Jin; Ko, Suk Min; Lim, Pyung Ok; Song, Pill Soon; Song, Sung Jun; Lee, Hyo Yeon [Jeju National University, Jeju (Korea, Republic of)

    2010-09-15

    The aim of this study is selection of the male-sterile plant for inhibiting transgene flow through gamma-irradiation ({sup 60}Co) at the pollination and fertilization cycle of herbicide-tolerant genetically modified (GM) zoysiagrass (Zoysia japonica Steud.). High frequencies of plant mutations were obtained about 18% from M{sub 1} generation at the doses (10 to 50 Gy). We also found that some M{sub 1} plants showed male-sterile plants using de-husked seeds and comparison of stainable pollen using KI-I{sub 2} solution. Besides the effects of irradiation on pollination and fertilization cycle, various other mutation like dwarf, cold tolerance, increasing grains and mass were observed. Four of dwarfism plants were selected through comparison of morphological characteristic between control and mutants during 4 years. These results demonstrated that the gamma-irradiation on pollination and fertilization cycle is very effective to induce the various mutations, and the male-sterile mutants are useful for controlling transgene flow and developing of high quality turfgasses.

  15. Primordial dwarfism gene maintains Lin28 expression to safeguard embryonic stem cells from premature differentiation.

    Science.gov (United States)

    Dai, Qian; Luan, Guangxin; Deng, Li; Lei, Tingjun; Kang, Han; Song, Xu; Zhang, Yujun; Xiao, Zhi-Xiong; Li, Qintong

    2014-05-08

    Primordial dwarfism (PD) is characterized by global growth failure, both during embryogenesis and postnatally. Loss-of-function germline mutations in La ribonucleoprotein domain family, member 7 (LAPR7) have recently been linked to PD. Paradoxically, LARP7 deficiency was previously assumed to be associated with increased cell growth and proliferation via activation of positive transcription elongation factor b (P-TEFb). Here, we show that Larp7 deficiency likely does not significantly increase P-TEFb activity. We further discover that Larp7 knockdown does not affect pluripotency but instead primes embryonic stem cells (ESCs) for differentiation via downregulation of Lin28, a positive regulator of organismal growth. Mechanistically, we show that Larp7 interacts with a poly(A) polymerase Star-PAP to maintain Lin28 mRNA stability. We propose that proper regulation of Lin28 and PTEFb is essential for embryonic cells to achieve a sufficient number of cell divisions prior to differentiation and ultimately to maintain proper organismal size. Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

  16. Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome.

    Science.gov (United States)

    Abdel-Salam, Ghada M H; Abdel-Hamid, Mohamed S; Saleem, Sahar N; Ahmed, Mahmoud K H; Issa, Mahmoud; Effat, Laila K; Kayed, Hisham F; Zaki, Maha S; Gaber, Khaled R

    2012-08-01

    We describe two sibs with a lethal form of profound congenital microcephaly, intrauterine and postnatal growth retardation, subtle skeletal changes, and poorly developed brain. The sibs had striking absent cranial vault with sloping of the forehead, large beaked nose, relatively large ears, and mandibular micro-retrognathia. Brain magnetic resonance imaging (MRI) revealed extremely simplified gyral pattern, large interhemispheric cyst and agenesis of corpus callosum, abnormally shaped hippocampus, and proportionately affected cerebellum and brainstem. In addition, fundus examination showed foveal hypoplasia with optic nerve atrophy. No abnormalities of the internal organs were found. This profound form of microcephaly was identified at 17 weeks gestation by ultrasound and fetal brain MRI helped in characterizing the developmental brain malformations in the second sib. Molecular analysis excluded mutations in potentially related genes such as RNU4ATAC, SLC25A19, and ASPM. These clinical and imaging findings are unlike that of any recognized severe forms of microcephaly which is believed to be a new microcephalic primordial dwarfism (MPD) with developmental brain malformations with most probably autosomal recessive inheritance based on consanguinity and similarly affected male and female sibs. Copyright © 2012 Wiley Periodicals, Inc.

  17. RB1CC1 Protein Suppresses Type II Collagen Synthesis in Chondrocytes and Causes Dwarfism*

    Science.gov (United States)

    Nishimura, Ichiro; Chano, Tokuhiro; Kita, Hiroko; Matsusue, Yoshitaka; Okabe, Hidetoshi

    2011-01-01

    RB1-inducible coiled-coil 1 (RB1CC1) functions in various processes, such as cell growth, differentiation, senescence, apoptosis, and autophagy. The conditional transgenic mice with cartilage-specific RB1CC1 excess that were used in the present study were made for the first time by the Cre-loxP system. Cartilage-specific RB1CC1 excess caused dwarfism in mice without causing obvious abnormalities in endochondral ossification and subsequent skeletal development from embryo to adult. In vitro and in vivo analysis revealed that the dwarf phenotype in cartilaginous RB1CC1 excess was induced by reductions in the total amount of cartilage and the number of cartilaginous cells, following suppressions of type II collagen synthesis and Erk1/2 signals. In addition, we have demonstrated that two kinds of SNPs (T-547C and C-468T) in the human RB1CC1 promoter have significant influence on the self-transcriptional level. Accordingly, human genotypic variants of RB1CC1 that either stimulate or inhibit RB1CC1 transcription in vivo may cause body size variations. PMID:22049074

  18. Epigenetic aging signatures in mice livers are slowed by dwarfism, calorie restriction and rapamycin treatment.

    Science.gov (United States)

    Wang, Tina; Tsui, Brian; Kreisberg, Jason F; Robertson, Neil A; Gross, Andrew M; Yu, Michael Ku; Carter, Hannah; Brown-Borg, Holly M; Adams, Peter D; Ideker, Trey

    2017-03-28

    Global but predictable changes impact the DNA methylome as we age, acting as a type of molecular clock. This clock can be hastened by conditions that decrease lifespan, raising the question of whether it can also be slowed, for example, by conditions that increase lifespan. Mice are particularly appealing organisms for studies of mammalian aging; however, epigenetic clocks have thus far been formulated only in humans. We first examined whether mice and humans experience similar patterns of change in the methylome with age. We found moderate conservation of CpG sites for which methylation is altered with age, with both species showing an increase in methylome disorder during aging. Based on this analysis, we formulated an epigenetic-aging model in mice using the liver methylomes of 107 mice from 0.2 to 26.0 months old. To examine whether epigenetic aging signatures are slowed by longevity-promoting interventions, we analyzed 28 additional methylomes from mice subjected to lifespan-extending conditions, including Prop1 df/df dwarfism, calorie restriction or dietary rapamycin. We found that mice treated with these lifespan-extending interventions were significantly younger in epigenetic age than their untreated, wild-type age-matched controls. This study shows that lifespan-extending conditions can slow molecular changes associated with an epigenetic clock in mice livers.

  19. Selection of male-sterile and dwarfism genetically modified zoysia japonica through gamma irradiation

    International Nuclear Information System (INIS)

    Bae, Tae Woong; Song, In Ja; Kang, Hong Gyu; Jeong, Ok Cheol; Sun, Hyeon Jin; Ko, Suk Min; Lim, Pyung Ok; Song, Pill Soon; Song, Sung Jun; Lee, Hyo Yeon

    2010-01-01

    The aim of this study is selection of the male-sterile plant for inhibiting transgene flow through gamma-irradiation ( 60 Co) at the pollination and fertilization cycle of herbicide-tolerant genetically modified (GM) zoysiagrass (Zoysia japonica Steud.). High frequencies of plant mutations were obtained about 18% from M 1 generation at the doses (10 to 50 Gy). We also found that some M 1 plants showed male-sterile plants using de-husked seeds and comparison of stainable pollen using KI-I 2 solution. Besides the effects of irradiation on pollination and fertilization cycle, various other mutation like dwarf, cold tolerance, increasing grains and mass were observed. Four of dwarfism plants were selected through comparison of morphological characteristic between control and mutants during 4 years. These results demonstrated that the gamma-irradiation on pollination and fertilization cycle is very effective to induce the various mutations, and the male-sterile mutants are useful for controlling transgene flow and developing of high quality turfgasses

  20. Physical basis behind achondroplasia, the most common form of human dwarfism.

    Science.gov (United States)

    He, Lijuan; Horton, William; Hristova, Kalina

    2010-09-24

    Fibroblast growth factor receptor 3 (FGFR3) is a receptor tyrosine kinase that plays an important role in long bone development. The G380R mutation in FGFR3 transmembrane domain is known as the genetic cause for achondroplasia, the most common form of human dwarfism. Despite many studies, there is no consensus about the exact mechanism underlying the pathology. To gain further understanding into the physical basis behind the disorder, here we measure the activation of wild-type and mutant FGFR3 in mammalian cells using Western blots, and we analyze the activation within the frame of a physical-chemical model describing dimerization, ligand binding, and phosphorylation probabilities within the dimers. The data analysis presented here suggests that the mutation does not increase FGFR3 dimerization, as proposed previously. Instead, FGFR3 activity in achondroplasia is increased due to increased probability for phosphorylation of the unliganded mutant dimers. This finding has implications for the design of targeted molecular treatments for achondroplasia.

  1. Cranial vault remodeling in microcephalic osteodysplastic primordial dwarfism type II and craniosynostosis.

    Science.gov (United States)

    Engel, Michael; Castrillon-Oberndorfer, Gregor; Hoffmann, Jürgen; Egermann, Marcus; Freudlsperger, Christian; Thiele, Oliver Christian

    2012-09-01

    This is a survey of the long-term result after various surgical treatments in a child with microcephalic osteodysplastic primordial dwarfism type II (MOPD II) and craniosynostosis. We report a 17-year-old patient with MOPD II but some unusual clinical signs including bilateral knee dislocation, a misplaced upper lobe bronchus, and hypoplasia of the anterior corpus callosum. Because of premature fusion of several cranial sutures, the child developed signs of increased intracranial pressure with somnolence and papilledema. Cranial vault remodeling with fronto-orbital advancement was performed twice at the age of 16 and 21 months to open the abnormally closed suture, increase the intracranial volume, and relieve the elevated intracranial pressure. Following this procedure, the child's neurologic situation recovered significantly. Surgical procedure of fronto-orbital advancement and the performed reoperation in our patient were safe with no major complications intraoperatively and postoperatively with good functional and satisfying aesthetic outcomes in the long-term follow-up, expressed by the patient, his parents, and the surgeons.

  2. Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwarfism in mouse model.

    Science.gov (United States)

    Komla-Ebri, Davide; Dambroise, Emilie; Kramer, Ina; Benoist-Lasselin, Catherine; Kaci, Nabil; Le Gall, Cindy; Martin, Ludovic; Busca, Patricia; Barbault, Florent; Graus-Porta, Diana; Munnich, Arnold; Kneissel, Michaela; Di Rocco, Federico; Biosse-Duplan, Martin; Legeai-Mallet, Laurence

    2016-05-02

    Achondroplasia (ACH) is the most frequent form of dwarfism and is caused by gain-of-function mutations in the fibroblast growth factor receptor 3-encoding (FGFR3-encoding) gene. Although potential therapeutic strategies for ACH, which aim to reduce excessive FGFR3 activation, have emerged over many years, the use of tyrosine kinase inhibitor (TKI) to counteract FGFR3 hyperactivity has yet to be evaluated. Here, we have reported that the pan-FGFR TKI, NVP-BGJ398, reduces FGFR3 phosphorylation and corrects the abnormal femoral growth plate and calvaria in organ cultures from embryos of the Fgfr3Y367C/+ mouse model of ACH. Moreover, we demonstrated that a low dose of NVP-BGJ398, injected subcutaneously, was able to penetrate into the growth plate of Fgfr3Y367C/+ mice and modify its organization. Improvements to the axial and appendicular skeletons were noticeable after 10 days of treatment and were more extensive after 15 days of treatment that started from postnatal day 1. Low-dose NVP-BGJ398 treatment reduced intervertebral disc defects of lumbar vertebrae, loss of synchondroses, and foramen-magnum shape anomalies. NVP-BGJ398 inhibited FGFR3 downstream signaling pathways, including MAPK, SOX9, STAT1, and PLCγ, in the growth plates of Fgfr3Y367C/+ mice and in cultured chondrocyte models of ACH. Together, our data demonstrate that NVP-BGJ398 corrects pathological hallmarks of ACH and support TKIs as a potential therapeutic approach for ACH.

  3. Mode of inheritance of irradiation induced dwarfism and male sterility in the tomato, Lycopersicon esculentum

    International Nuclear Information System (INIS)

    Garofalo, J.F.

    1975-01-01

    Seedlings of the Louisiana tomato cultivar ''Pelican'' were irradiated in the cotyledonary stage with 10,000 roentgen (R) of gamma radiation from 60 Co at 1.67 R/min by Dr. Milton J. Constantin, Comparative Animal Research Laboratory operated by the University of Tennessee for the Atomic Energy Commission. From these irradiated plants one dwarf and six stamenless mutants were selected and propagated. In 1973 to 1974 a genetic study was conducted to determine the mode of inheritance of these mutant characters. Also a combining ability study was conducted to determine the potential value of the dwarf mutant as a parent in the production of F 1 hybrid seed. The results of the genetic study showed that the induced dwarf character was simply inherited and recessive. Results indicate that this gene is probably located at a locus different from that of genes controlling dwarfism in other tomato lines. The combining ability study showed that this dwarf mutant is of little value as a breeding parent. The genetic study of the stamenless lines showed this character to be simply inherited and recessive. It was also shown that the gene controlling male sterility is located at the same locus in the lines L 39 and L 43, and it is assumed that the same locus is involved in all six lines. The stamenless lines have, as far as has been observed, retained the good combining ability of the original parent cultivar ''Pelican''

  4. Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.

    Science.gov (United States)

    Dieks, Jana-Katharina; Baumer, Alessandra; Wilichowski, Ekkehard; Rauch, Anita; Sigler, Matthias

    2014-09-01

    To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome. In microcephalic osteodysplastic primordial dwarfism type II (MOPD II; disproportionate short statue, microcephaly, facial abnormalities), however, cerebral aneurysms and other vascular abnormalities are frequent complications. MOPD II is a genetic disorder caused by mutations in the pericentrin (PCNT) gene (21q22). We report on a patient who came to our attention as a 22-year-old with subarachnoid bleeding due to a ruptured cranial aneurysm. Until then, the patient was thought and published to have Dubowitz syndrome; previously, he was treated with coronary bypass surgery for extensive coronary angiopathy. Consecutive genetic testing revealed MOPD II. After clinical stabilization, the patient was discharged to a specialized rehabilitation center where he died due to re-rupture of a cranial aneurysm. In patients with short stature-especially when clinical features are accompanied by vascular complications-MOPD II should be considered as a differential diagnosis leading to consecutive genetic testing. After detection of mutations in the PCNT gene, a full vascular status including cerebral imaging and cardiac evaluation needs to be determined in order to analyze vascular abnormalities and initiate prophylactic treatment.

  5. Midterm Survivorship and Complications of Total Knee Arthroplasty in Patients With Dwarfism.

    Science.gov (United States)

    Tan, Timothy L; Kheir, Michael M; Modi, Ronuk; Chen, Chi-Lung; Shao, Hongyi; Chen, Antonia F

    2017-11-01

    Dwarfism is associated with skeletal dysplasias and joint deformities that frequently result in osteoarthritis requiring treatment with total knee arthroplasty (TKA). These surgeries can be challenging because of alignment deformities, poor bone stock, and smaller components. This study aims to compare TKA implant survivorship and complications between dwarf and nondwarf patients. A retrospective case-control study was performed from 1997-2014 evaluating 115 TKAs in patients under the height threshold of 147.32 cm. This cohort was compared with 164 patients of normal height. Medical records were reviewed for demographics, surgical characteristics, and outcomes. All cases had 2-year minimum follow-up. The revision rate was 8.7% in dwarfs compared with 3.7% in controls (P = .08). The 2-, 5-, and 10-year implant survivorship in dwarfs was 96.4%, 92.5%, and 90.2%, respectively; and 96.6%, 95.6%, and 94.8% for controls, respectively (P = .24). Dwarfs underwent significantly more manipulations for arthrofibrosis (P = .002). There was greater femoral (17.4% vs 2.1%, P manipulation; the increased propensity for stiffness may be associated with oversized components, as evidenced by greater component overhang. Surgeons should be aware of this increased risk and may consider using smaller or customized implants to account for the morphological differences in this patient population. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. Forensic and family psychiatry in abuse dwarfism: Munchausen's syndrome by proxy, atonement, and addiction to abuse.

    Science.gov (United States)

    Money, J; Annecillo, C; Hutchison, J W

    1985-01-01

    The syndrome of abuse dwarfism is characterized by gross impairment of statural and intellectual growth and social maturation while the abused child remains in the domicile of abuse. The parents collude as child abusers, and are medical impostors regarding the symptoms of abuse. The syndrome as a whole is appropriately named Munchausen's syndrome by proxy. Though the mother typically initiates abuse, she cannot give a rational explanation for doing so. In her own history there is a sin that is expiated or atoned for symbolically by the sacrifice of the child--explainable in terms of the theory of opponent-process learning. In the two cases presented, the sin was the mother's own birth out of wedlock, in one case as a sequel to incest. The child's addiction to abuse is a challenge to the program of rehabilitation. With respect to parents at risk, the data of this paper are relevant to the prevention of a predisposition toward, or the actual implementation of child abuse, though a program of prevention needs still to be formulated. The sexological relevance of this paper is that the data demonstrate that the effects of sexual abuse may be transmitted to the next generation and manifested as child abuse which is not necessarily sexual in content.

  7. Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.

    Science.gov (United States)

    Hall, Judith G; Flora, Christina; Scott, Charles I; Pauli, Richard M; Tanaka, Kimi I

    2004-09-15

    A description of the clinical features of Majewski osteodysplastic primordial dwarfism type II (MOPD II) is presented based on 58 affected individuals (27 from the literature and 31 previously unreported cases). The remarkable features of MOPD II are: severe intrauterine growth retardation (IUGR), severe postnatal growth retardation; relatively proportionate head size at birth which progresses to true and disproportionate microcephaly; progressive disproportion of the short stature secondary to shortening of the distal and middle segments of the limbs; a progressive bony dysplasia with metaphyseal changes in the limbs; epiphyseal delay; progressive loose-jointedness with occasional dislocation or subluxation of the knees, radial heads, and hips; unusual facial features including a prominent nose, eyes which appear prominent in infancy and early childhood, ears which are proportionate, mildly dysplastic and usually missing the lobule; a high squeaky voice; abnormally, small, and often dysplastic or missing dentition; a pleasant, outgoing, sociable personality; and autosomal recessive inheritance. Far-sightedness, scoliosis, unusual pigmentation, and truncal obesity often develop with time. Some individuals seem to have increased susceptibility to infections. A number of affected individuals have developed dilation of the CNS arteries variously described as aneurysms and Moya Moya disease. These vascular changes can be life threatening, even in early years because of rupture, CNS hemorrhage, and strokes. There is variability between affected individuals even within the same family. Copyright 2004 Wiley-Liss, Inc.

  8. MR imaging in children with ectopic pituitary gland and anterior hypopituitarism.

    Directory of Open Access Journals (Sweden)

    Patkar D

    1999-07-01

    Full Text Available Posterior pituitary ectopia refers to an absent normal posterior pituitary bright spot within the sella with ectopic bright signal at another site (such as the median eminence on a weighted magnetic resonance. We describe two children with idiopathic anterior hypopituitarism who showed an ectopic posterior pituitary and absent pituitary stalk on imaging. We emphasize the association of the absent pituitary stalk in ectopic pituitary gland and low growth hormone levels.

  9. Hypopituitarism as the presenting feature of bronchogenic carcinoma with metastases to the pituitary gland

    Directory of Open Access Journals (Sweden)

    Philip C Johnston

    2013-01-01

    Full Text Available Tumours metastasizing to the pituitary gland are uncommon. Symptomatic patients with pituitary metastases can present with diabetes insipidus, headache, visual field defects and/or anterior pituitary hormonal dysfunction. Treatment options for pituitary metastases include, surgical resection, cranial or parasellar irradiation and/or chemotherapy, and hormonal replacement if indicated. The overall prognosis of pituitary metastases is poor. We present a case of hypopituitarism as the presenting feature of bronchogenic carcinoma with metastases to the pituitary gland.

  10. MR imaging in children with ectopic pituitary gland and anterior hypopituitarism.

    OpenAIRE

    Patkar D; Patankar T; Krishnan A; Prasad S; Shah J; Limdi J

    1999-01-01

    Posterior pituitary ectopia refers to an absent normal posterior pituitary bright spot within the sella with ectopic bright signal at another site (such as the median eminence) on a weighted magnetic resonance. We describe two children with idiopathic anterior hypopituitarism who showed an ectopic posterior pituitary and absent pituitary stalk on imaging. We emphasize the association of the absent pituitary stalk in ectopic pituitary gland and low growth hormone levels.

  11. Quantitative evaluation of indium-111 (In-111) octreotide pituitary activity: Comparison in patient with and without pituitary tumors

    Energy Technology Data Exchange (ETDEWEB)

    Gupta, P.; Waxman, A.; Nguyen, K. [Cedars-Sinai Medical Center, Los Angeles, CA (United States)] [and others

    1995-05-01

    Indium 111 Octreotide is known to detect pituitary tumors. Variable low level pituitary activity has been reported in pts. with no demonstrable pituitary tumors. To our knowledge, there have been no studies which quantitatively categorize pituitary activity with respect to distinguishing normal subject from pts. with pituitary tumors. 13 pts. with proven, treated acromegaly were included, as well as 15 pts. with no history of pituitary disorder. Both groups underwent SPECT In-111 scintigraphy 24 hours post-injection Average count per pixel ratios were obtained for the pituitary/calvarium (P/C) and pituitary/brain (P/B) regions. 10 pts. with acromegaly underwent growth hormone (GH) measurements 2 hours post-glucose load. Statistical correlation between growth hormone levels using P/C and P/B ratios were obtained. P/C ratios, as well as P/B ratios demonstrated high correlation with serum GH levels correlation coefficient(r)= .717 for P/C p<0.05, and correlation coefficient(r) = 0.828 for P/B ratios p<0.005. P/C ratios and P/B ratios for controls correlated closely with the upper level of normal predicted by P/C or P/B ratios as a function of serum growth hormone found in patients with acromegaly. Somatostatin receptor SPECT scintigraphy of the pituitary and appropriate quantitation can predict patients with growth hormone secreting tumors.

  12. Pituitary imaging findings in male patients with hypogonadotrophic hypogonadism.

    Science.gov (United States)

    Hirsch, Dania; Benbassat, Carlos; Toledano, Yoel; S'chigol, Irena; Tsvetov, Gloria; Shraga-Slutzky, Ilana; Eizenberg, Yoav; Shimon, Ilan

    2015-08-01

    Data on pituitary imaging in adult male patients presenting with hypogonadotrophic hypogonadism (HH) and no known pituitary disease are scarce. To assess the usefulness of pituitary imaging in the evaluation of men presenting with HH after excluding known pituitary disorders and hyperprolactinemia. A historical prospective cohort of males with HH. Men who presented for endocrine evaluation from 2011 to 2014 with testosterone levels pituitary disease. Seventy-five men were included in the analysis. Their mean age and BMI were 53.4 ± 14.8 years and 30.7 ± 5.2 kg/m2, respectively. Mean total testosterone, LH, and FSH were 6.2 ± 1.7 nmol/L, 3.4 ± 2 and 4.7 ± 3.1 mIU/L, respectively. Prolactin level within the normal range was obtained in all men (mean 161 ± 61, range 41-347 mIU/L). Sixty-two men had pituitary MRI and 13 performed CT. In 61 (81.3%) men pituitary imaging was normal. Microadenoma was found in 8 (10.7%), empty sella and thickened pituitary stalk in one patient (1.3%) each. In other four patients (5.3%) a small or mildly asymmetric pituitary gland was noted. No correlation was found between testosterone level and the presence of pituitary anomalies. This study suggests that the use of routine hypothalamic-pituitary imaging in the evaluation of IHH, in the absence of clinical characteristics of other hormonal loss or sellar compression symptoms, will not increase the diagnostic yield of sellar structural abnormalities over that reported in the general population.

  13. Diagnosis and treatment of pituitary adenomas.

    Science.gov (United States)

    Chanson, P; Salenave, S

    2004-12-01

    Pituitary tumors cause symptoms by secreting hormones (prolactin, PRL, responsible for amenorrhea-galactorrhea in women and decreased libido in men; growth hormone, GH, responsible for acromegaly; adrenocorticotropic hormone, ACTH, responsible for Cushing's syndrome; thyroid-stimulating hormone, TSH, responsible for hyperthyroidism), depressing the secretion of hormones (hypopituitarism), or by mass-related effects (headaches, visual field abnormalities...). All patients with pituitary tumors should be evaluated for gonadal, thyroid and adrenal function as well as PRL and GH secretion. Specific stimulation and suppression tests for pituitary hormones are performed in selected situations for detecting the type of hypersecretion or the response to treatment. Imaging procedures (mainly magnetic resonance imaging, MRI, nowadays) determine the presence, size and extent of the lesion. The classification of pituitary tumors is based on the staining properties of the cell cytoplasm viewed by light microscopy and immunocytochemistry revealing the secretory pattern of the adenoma. Treatment of pituitary adenomas consists of surgery (performed in more than 99% of cases via a transphenoidal route) and radiotherapy, generally fractionated or, in selected cases, using stereotactic techniques such as gamma-knife. The availability of medical treatment (dopamine, DA, agonists, somatostatin analogs, GH-receptor antagonists...) has profoundly modified the indications of radiotherapy, drugs being now generally used as a second-line treatment, after surgery (or even as first-line treatment). Based on the results of the different treatment modalities for each type of pituitary adenoma, recommendations will be proposed. They may be summarized as follows. For treatment of GH-secreting adenomas, trans-sphenoidal surgery is the first-line therapy except when the macroadenoma is giant or if surgery is contra-indicated; postoperative radiation therapy (fractionated, or by gamma-knife) is

  14. Endoscopic endonasal transsphenoidal surgery: surgical results of 228 pituitary adenomas treated in a pituitary center.

    Science.gov (United States)

    Gondim, Jackson A; Schops, Michele; de Almeida, João Paulo C; de Albuquerque, Lucas Alverne F; Gomes, Erika; Ferraz, Tânia; Barroso, Francisca Andréa C

    2010-01-01

    Pituitary tumors are challenging tumors in the sellar region. Surgical approaches to the pituitary have undergone numerous refinements over the last 100 years. The introduction of the endoscope have revolutionized pituitary surgery. The aim of this study is to report the results of a consecutive series of patients undergoing pituitary surgery using a pure endoscopic endonasal approach and to evaluate the efficacy and safety of this procedure. We reviewed the data of 228 consecutive patients who underwent endonasal transsphenoidal adenoma removal over an 10-year period. Pre- and post-operative hormonal status (at least 3 months after surgery) were analyzed and compared with clinical parameters presented by the patients. Tumor removal rate, endocrinological outcomes, and complications were retrospectively assessed in 228 patients with pituitary adenomas who underwent 251 procedures between December 1998 and December 2007. There were 93 nonfunctioning adenomas, 58 growth hormone-secreting, 41 prolactin-secreting, 28 adrenocorticotropin hormone secreting, 7 FSH-LH secreting and 1 thyroid-stimulating hormone-secreting adenomas. Gross total removal was achieved in 79.3% of the cases after a median follow-up of 61.5 months. The remission results for patients with nonfunctioning adenomas was 83% and for functioning adenomas were 76.3% (70.6% for GH hormone-secreting, 85.3% for prolactin hormone-secreting, 71.4% for ACTH hormone-secreting, 85.7% for FSH-LH hormone-secreting and 100% for TSH hormone-secreting), with no recurrence at the time of the last follow-up. Post-operative complications were present in 35 (13.9%) cases. The most frequent complications were temporary and permanent diabetes insipidus (six and two cases, respectively), syndrome of inappropriate antidiuretic hormone secretion (two cases) and CSF leaks (eight cases). There was no death related to the procedure in this series. The endoscopic endonasal approach for resection of pituitary adenomas, provides

  15. Using 15N-glycine trace technique to observe the influence of growth hormone on the rate of whole body protein metabolism in dwarfism

    International Nuclear Information System (INIS)

    Wu Jingchuan; Wu Zhen; Wu Jizong

    1993-01-01

    The changes of whole body protein metabolism was studied using one oral dose 15 N-glycine. Urine 15 N excretion 24 hours before and after injected growth hormone (GH) was measured in 9 cases of dwarfism. The results showed that in children with growth hormone deficiency (CHD) with low nitrogen balance, rate of protein syntheses and 15 N retention capability were significantly increased after treatment with GH. Children with constitutional growth delay (CGD) with normal parameters of nitrogen balance showed no difference before and after treatment of GH. It was concluded that 15 N trace might be a supplementary tool for the diagnosis and differential diagnosis of dwarfism

  16. Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype

    Directory of Open Access Journals (Sweden)

    Ali Al Kaissi

    2014-01-01

    Full Text Available We report on a female fetus noted to have severe malformative type of skeletal dysplasia on ultrasonography done at 35 weeks gestation. The girl died shortly after birth. Clinical examination showed a fetus with severe dwarfism, extensive long and short bones, and bone deficiencies associated with multiple dislocations. Computed tomography (CT scan-based phenotype showed a complex constellation of malformations consistent with the diagnosis of Grebe syndrome. Parents being first cousins (consanguineous marriage strongly suggests autosomal recessive pattern of inheritance. To our knowledge, this is the first report of neonatal death dwarfism of Grebe syndrome analyzed by CT scan-based phenotype.

  17. Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype.

    Science.gov (United States)

    Al Kaissi, Ali; Chehida, Farid Ben; Ganger, Rudolf; Grill, Franz

    2014-01-01

    We report on a female fetus noted to have severe malformative type of skeletal dysplasia on ultrasonography done at 35 weeks gestation. The girl died shortly after birth. Clinical examination showed a fetus with severe dwarfism, extensive long and short bones, and bone deficiencies associated with multiple dislocations. Computed tomography (CT) scan-based phenotype showed a complex constellation of malformations consistent with the diagnosis of Grebe syndrome. Parents being first cousins (consanguineous marriage) strongly suggests autosomal recessive pattern of inheritance. To our knowledge, this is the first report of neonatal death dwarfism of Grebe syndrome analyzed by CT scan-based phenotype.

  18. Hemorrhagic chondroid chordoma mimicking pituitary apoplexy

    Energy Technology Data Exchange (ETDEWEB)

    Lee, H.J.; Kalnin, A.J.; Holodny, A.I. [Dept. of Radiology, University Hospital, Newark, NJ (United States); Schulder, M.; Grigorian, A. [Dept. of Neurosurgery, University Hospital, Newark, NJ (United States); Sharer, L.R. [Dept. of Pathology, University Hospital, Newark, NJ (United States)

    1998-11-01

    We describe a hemorrhagic chondroid chordoma involving the sella turcica with suprasellar extension. The CT and MRI appearances mimiked a hemorrhagic pituitary adenoma. Chondroid chordoma is a variant composed of elements of both chordoma and cartilaginous tissue. An uncommon bone neoplasm, located almost exclusively in the spheno-occipital region, it is usually not considered in the differential diagnosis of a tumor with acute hemorrhage in the sellar region. We discuss the clinical and radiological characteristics which may allow one to differentiate chondroid chordoma from other tumors of this area. (orig.) With 3 figs., 9 refs.

  19. Duplication of the pituitary gland - plus syndrome

    Directory of Open Access Journals (Sweden)

    Debraj Sen

    2016-01-01

    Full Text Available Duplication of the pituitary gland (DPG is a very rare developmental anomaly that is often associated with other anomalies - the DPG-plus syndrome and occurs due to splitting of the rostral notochord and prechordal plate during blastogenesis. DPG with the constellation of associated anomalies as in our patient has not been reported previously. This article illustrates the importance of imaging the brain in all patients with obvious midline facial anomalies and the complementary role of MRI and CT in such cases.

  20. Colloid cyst in pituitary gland: a case report

    International Nuclear Information System (INIS)

    Koo, Hee Youn; Lee, Myung Jun; Lee, Chang Joon; Yoo, Jeong Hyun

    2001-01-01

    Colloid cyst is a congenital lesion which is thought to be derived from the primitive neuro epithelium, and is most frequently located in the anterior half of the third ventricle. Colloid cysts rarely occur in the pituitary gland, and we describe a case of pituitary colloid cyst, including the CT, MRI and pathologic findings

  1. Pituitary Volume Prospectively Predicts Internalizing Symptoms in Adolescence

    Science.gov (United States)

    Zipursky, Amy R.; Whittle, Sarah; Yucel, Murat; Lorenzetti, Valentina; Wood, Stephen J.; Lubman, Dan I.; Simmons, Julian G.; Allen, Nicholas B.

    2011-01-01

    Background: Early adolescence is a critical time for the development of both internalizing and externalizing disorders. We aimed to investigate whether pituitary volume, an index of hypothalamic-pituitary-adrenal (HPA) axis function, represents a vulnerability factor for the emergence of internalizing and externalizing symptoms during adolescence…

  2. Effects of endocrine disrupting heavy metals on pituitary and ...

    African Journals Online (AJOL)

    Association of hypogonadism and visceral obesity (VO) was recently demonstrated in male auto-mechanics occupationally exposed to endocrine disruptors (ED)-lead, cadmium, mercury and arsenic, known to alter the hypothalamic-pituitary-testicular axis. The effects of exposure to these EDs on pituitary and gonadal ...

  3. Volume of the adrenal and pituitary glands in depression

    DEFF Research Database (Denmark)

    Kessing, Lars Vedel; Willer, Inge Stoel; Knorr, Ulla

    2011-01-01

    Numerous studies have shown that the hypothalamic-pituitary-adrenal (HPA) axis is hyperactive in some depressed patients. It is unclear whether such hyperactivity results in changed volumes of the adrenal glands, pituitary gland and hypothalamus. We systematically reviewed all controlled studies ...

  4. MRI study of normal pituitary glands in stage of puberty

    International Nuclear Information System (INIS)

    Lin Guangwu; Zhang Tao; Yang Ning; Cai Feng; Shi Yifan; Deng Jieying; Zhang Luodong; Jiang Yayun

    2005-01-01

    Objective: To study the changes of shape, size and signal intensity of normal pituitary glands in adolescents and to correlate the size and shape of normal pituitary glands with the age, height and weight in stage of puberty. Methods: One hundred and fifty-five cases of MRI data of pituitary glands in normal adolescents range from 6.0 year to 18.9 year were used. Using high-field 1.5T MR scanner, the appearances of pituitary glands in 152 normal adolescents were analyzed on T 1 WI in standard median sagittal and coronal plane. Results: Three groups quantitative data of size, shape and single intensity changes of normal pituitary glands were obtained, which were divided into 6- m =0.74, t=3.624, P=0.004; r f =0.94, t=9.562, P=0.000), however, it was not markedly correlated with the height and weight (P>0.05). Conclusion: Obvious changes of the size and shape of pituitary glands were found in health adolescents. The pituitary glands manifest physiologic hypertrophy with more convex of upper border when age increased in stage of puberty. The spherical appearance of the pituitary glands is a normal developmental feature and should not warrant clinical investigation for the presence of an underlying micro-adenoma in teenage females. (authors)

  5. Cushing's Syndrome From Pituitary Microadenoma and Pulmonary Nodules.

    Science.gov (United States)

    Tating, Dan Louie Renz P; Montevirgen, Natasha Denise S; Cajucom, Loyda

    2016-03-01

    Cushing's syndrome is a state of cortisol excess, possibly from a tumor in the pituitary gland, the adrenal gland, or an ectopic nonpituitary ACTH-secreting source. The first form, pituitary in origin, was originally described by Harvey Cushing, MD, and was labeled as Cushing's disease. Long-term therapy with glucocorticoids also can lead to iatrogenic Cushing's syndrome.

  6. Pituitary tumors in patients with MEN1 syndrome

    Directory of Open Access Journals (Sweden)

    Luis V. Syro

    2012-01-01

    Full Text Available We briefly review the characteristics of pituitary tumors associated with multiple endocrine neoplasia type 1. Multiple endocrine neoplasia type 1 is an autosomal-dominant disorder most commonly characterized by tumors of the pituitary, parathyroid, endocrine-gastrointestinal tract, and pancreas. A MEDLINE search for all available publications regarding multiple endocrine neoplasia type 1 and pituitary adenomas was undertaken. The prevalence of pituitary tumors in multiple endocrine neoplasia type 1 may vary from 10% to 60% depending on the studied series, and such tumors may occur as the first clinical manifestation of multiple endocrine neoplasia type 1 in 25% of sporadic and 10% of familial cases. Patients were younger and the time between initial and subsequent multiple endocrine neoplasia type 1 endocrine lesions was significantly longer when pituitary disease was the initial manifestation of multiple endocrine neoplasia type 1. Tumors were larger and more invasive and clinical manifestations related to the size of the pituitary adenoma were significantly more frequent in patients with multiple endocrine neoplasia type 1 than in subjects with non-multiple endocrine neoplasia type 1. Normalization of pituitary hypersecretion was much less frequent in patients with multiple endocrine neoplasia type 1 than in subjects with non-multiple endocrine neoplasia type 1. Pituitary tumors in patients with multiple endocrine neoplasia type 1 syndrome tend to be larger, invasive and more symptomatic, and they tend to occur in younger patients when they are the initial presentation of multiple endocrine neoplasia type 1.

  7. Xanthomatosis, pituitary gland, Magnetic Resonance Imaging, Sella turcica

    International Nuclear Information System (INIS)

    Jang, Seok Jin; Kim, Eui Jong; Choi, Woo Seok; Park, Bong Jin

    2011-01-01

    Xanthomatous hypophysitis is a rare inflammatory disorder of the pituitary gland of unknown prevalence that causes pituitary dysfunction and a mass-like lesion. The authors report a case of 40-year-old man with a visual disturbance and a confirmed diagnosis of xanthomatous hypophysitis.

  8. MRI of normal pituitary glands and their surrounding structures

    International Nuclear Information System (INIS)

    Sato, Yoshiyuki

    1991-01-01

    Normal MRI appearances of the pituitary glands and their surrounding structures were evaluated in 332 patients without sellar and parasellar diseases. The height of the pituitary gland was maximum at 10-19 years of age reflecting hormonal activity. The width of the pituitary gland decreased, while that of the cavernous sinus increased with aging. This is probably due to atherosclerotic change of the internal carotid artery. Females younger than 30 years of age tended to show a convex upper surface of the pituitary gland and the displacement of the pituitary stalk was common after 50 years of age. Almost all of the anterior lobe of the pituitary gland showed isointensity relative to the pons or cerebral cortex and the majority (85.1%) of the posterior lobe showed hyperintensity. However, the anterior lobe in 2 newborns showed hyperintensity similar to the normal posterior lobe in adults. The posterior lobe was located off the midline in 19.1% of the subjects. One case of pars intermedia cyst was discovered among 14 subjects who were administered Gd-DTPA. The dural membrane between the pituitary gland and cavernous sinus was recognizable only in 8.6% on the right side and 7.5% on the left side. Primary empty sella was identified in 4.5%. Knowledge of the above normal ranges and variations of the pituitary gland and its surrounding structures is important in diagnosing sellar and parasellar lesions. (author) 52 refs

  9. Dominant dwarfism in transgenic rats by targeting human growth hormone (GH) expression to hypothalamic GH-releasing factor neurons.

    OpenAIRE

    Flavell, D M; Wells, T; Wells, S E; Carmignac, D F; Thomas, G B; Robinson, I C

    1996-01-01

    Expression of human growth hormone (hGH) was targeted to growth hormone-releasing (GRF) neurons in the hypothalamus of transgenic rats. This induced dominant dwarfism by local feedback inhibition of GRF. One line, bearing a single copy of a GRF-hGH transgene, has been characterized in detail, and has been termed Tgr (for Transgenic growth-retarded). hGH was detected by immunocytochemistry in the brain, restricted to the median eminence of the hypothalamus. Low levels were also detected in the...

  10. Progressive pituitary hormone deficiency following radiation therapy in adults

    International Nuclear Information System (INIS)

    Loureiro, Rafaela A.; Vaisman, Mario

    2004-01-01

    Hypopituitarism can be caused by radiation therapy, even when it is not directly applied on the hypothalamic-pituitary axis, and can lead to anterior pituitary deficiency mainly due to hypothalamic damage. The progressive loss of the anterior pituitary hormones usually occurs in the following order: growth hormone, gonadotropin hormones, adrenocorticotropic hormone and thyroid-stimulating hormone. Although there are several different tests available to confirm anterior pituitary deficiency, this paper will focus on the gold standard tests for patients submitted to radiation therapy. We emphasize that the decline of anterior pituitary function is time- and dose-dependent with some variability among the different axes. Therefore, awareness of the need of a joint management by endocrinologists and oncologists is essential to improve treatment and quality of life of the patients. (author)

  11. Stem/progenitor cells in pituitary organ homeostasis and tumourigenesis

    Science.gov (United States)

    Manshaei, Saba

    2018-01-01

    Evidence for the presence of pituitary gland stem cells has been provided over the last decade using a combination of approaches including in vitro clonogenicity assays, flow cytometric side population analysis, immunohistochemical analysis and genetic approaches. These cells have been demonstrated to be able to self-renew and undergo multipotent differentiation to give rise to all hormonal lineages of the anterior pituitary. Furthermore, evidence exists for their contribution to regeneration of the organ and plastic responses to changing physiological demand. Recently, stem-like cells have been isolated from pituitary neoplasms raising the possibility that a cytological hierarchy exists, in keeping with the cancer stem cell paradigm. In this manuscript, we review the evidence for the existence of pituitary stem cells, their role in maintaining organ homeostasis and the regulation of their differentiation. Furthermore, we explore the emerging concept of stem cells in pituitary tumours and their potential roles in these diseases. PMID:28855316

  12. Volume of the adrenal and pituitary glands in depression

    DEFF Research Database (Denmark)

    Kessing, Lars Vedel; Willer, Inge Stoel; Knorr, Ulla

    2011-01-01

    Numerous studies have shown that the hypothalamic-pituitary-adrenal (HPA) axis is hyperactive in some depressed patients. It is unclear whether such hyperactivity results in changed volumes of the adrenal glands, pituitary gland and hypothalamus. We systematically reviewed all controlled studies...... on the adrenal or pituitary glands or hypothalamus volume in unipolar depressive disorder published in PubMed 1966 to December 2009. We identified three studies that investigated the volume of the adrenal glands and eight studies that examined the volume of the pituitary gland, but no studies on hypothalamus...... were found. Two out of three studies found a statistically significant increase in adrenal volume in patients compared to controls. Four out of eight studies found a statistically significant increase in pituitary volume in patients compared to controls. Different methodological problems were...

  13. MR imaging of the pituitary gland in central precocious puberty

    International Nuclear Information System (INIS)

    Kao, S.C.S.; Cook, J.S.; Hansen, J.R.; Simonson, T.M.

    1992-01-01

    Cranial magnetic resonance imaging was performed in 17 children with central precocious puberty (CPP) and 19 aged-matched controls to compare the appearance of the pituitary gland. Gland size was measured on T1-weighted sagittal and coronal images. The gland was graded according to the concavity or convexity of the upper surface, and the signal intensity of the gland was assessed visually. The mean pituitary volume in 13 CPP children without hypothalamic tumor (292.6 mm 3 ) was significantly greater than that in normal controls (181.35 mm 3 ). The mean volume for the four CPP children with hypothalamic tumor was smaller (145.0 mm 3 ). Compared to controls, the upper pituitary surface in CPP patients appeared convex in a higher proportion. The anterior pituitary was isointense to pons in all patients and controls. Although the posterior pituitary bright spot was present in 14 controls and 11 CPP patients, none with hypothalamic tumor showed it. (orig.)

  14. Pituitary gland in psychiatric disorders: a review of neuroimaging findings.

    Science.gov (United States)

    Atmaca, Murad

    2014-08-01

    In this paper, it was reviewed neuroimaging results of the pituitary gland in psychiatric disorders, particularly schizophrenia, mood disorders, anxiety disorders, and somatoform disorders. The author made internet search in detail by using PubMed database including the period between 1980 and 2012 October. It was included in the articles in English, Turkish and French languages on pituitary gland in psychiatric disorders through structural or functional neuroimaging results. After searching mentioned in the Methods section in detail, investigations were obtained on pituitary gland neuroimaging in a variety of psychiatric disorders. There have been so limited investigations on pituitary neuroimaging in psychiatric disorders including major psychiatric illnesses like schizophrenia and mood disorders. Current findings are so far from the generalizability of the results. For this reason, it is required to perform much more neuroimaging studies of pituitary gland in all psychiatric disorders to reach the diagnostic importance of measuring it.

  15. Thyrotropin secreting pituitary adenoma accompanying a silent somatotropinoma.

    Science.gov (United States)

    Berker, Dilek; Isik, Serhat; Aydin, Yusuf; Tutuncu, Yasemin; Akdemir, Gokhan; Ozcan, Hatice Nursun; Guler, Serdar

    2011-01-01

    Thyroid stimulating hormone (TSH) secreting pituitary adenomas are rare tumors manifested as hyperthyroidism with goiter in the presence of elevated TSH. We present a case with pituitary adenoma secreting both TSH and growth hormone (GH) with the prominent clinical findings of hyperthyroidism but without clinical findings of acromegaly. Pituitary magnetic resonance imaging revealed a macroadenoma. Transsphenoidal surgery was performed twice. The immunohistochemical staining showed that tumor cells were strongly reactive to GH and relatively mildly reactive to TSH. Control pituitary imaging revealed a residual macroadenoma, and long acting octreotide treatment was administered. After two years of the treatment, tumor size remained the same while thyroid function tests and insulin-like growth factor 1 (IGF-I) values returned to normal ranges. In conclusion, we always recommend hormonal examinations for all patients who have pituitary adenoma without signs and symptoms of acromegaly.

  16. Pituitary apoplexy in a teenager--case report.

    Science.gov (United States)

    Chao, Chen-Cheng; Lin, Chun-Ju

    2014-06-01

    Pituitary apoplexy is a rare clinical emergency which results from hemorrhage or infarction in the pituitary gland. We present a 14-year-old girl with pituitary apoplexy and review the literature. Our patient experienced blurred vision, nausea, and headache. Her best-corrected visual acuity was 20/200 and 20/20. Confrontation test visual field testing revealed bitemporal hemianopsia. Brain imaging demonstrated a suprasellar mass. The microscopic endonasal transsphenoidal approach only found 5-10 mL brownish fluid-like material. Pathology confirmed no malignancy. Pituitary apoplexy was diagnosed. Her nausea and headache gradually improved. Six months after operation, her best-corrected visual acuity had improved to 20/30 and 20/20. Although pituitary apoplexy is rare in pediatric patients, prompt evaluation including detailed ophthalmic examination, biochemical evaluation, endocrine workup, and image study are very important. Copyright © 2014 Elsevier Inc. All rights reserved.

  17. Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.

    Science.gov (United States)

    Koparir, Asuman; Karatas, Omer F; Yuceturk, Betul; Yuksel, Bayram; Bayrak, Ali O; Gerdan, Omer F; Sagiroglu, Mahmut S; Gezdirici, Alper; Kirimtay, Koray; Selcuk, Ece; Karabay, Arzu; Creighton, Chad J; Yuksel, Adnan; Ozen, Mustafa

    2015-10-01

    POC1A encodes a WD repeat protein localizing to centrioles and spindle poles and is associated with short stature, onychodysplasia, facial dysmorphism and hypotrichosis (SOFT) syndrome. These main features are related to the defect in cell proliferation of chondrocytes in growth plate. In the current study, we aimed at identifying the molecular basis of two patients with primordial dwarfism (PD) in a single family through utilization of whole-exome sequencing. A novel homozygous p.T120A missense mutation was detected in POC1A in both patients, a known causative gene of SOFT syndrome, and confirmed using Sanger sequencing. To test the pathogenicity of the detected mutation, primary fibroblast cultures obtained from the patients and a control individual were used. For evaluating the global gene expression profile of cells carrying p.T120A mutation in POC1A, we performed the gene expression array and compared their expression profiles to those of control fibroblast cells. The gene expression array analysis showed that 4800 transcript probes were significantly deregulated in cells with p.T120A mutation in comparison to the control. GO term association results showed that deregulated genes are mostly involved in the extracellular matrix and cytoskeleton. Furthermore, the p.T120A missense mutation in POC1A caused the formation of abnormal mitotic spindle structure, including supernumerary centrosomes, and changes in POC1A were accompanied by alterations in another centrosome-associated WD repeat protein p80-katanin. As a result, we identified a novel mutation in POC1A of patients with PD and showed that this mutation causes the formation of multiple numbers of centrioles and multipolar spindles with abnormal chromosome arrangement. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  18. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

    Science.gov (United States)

    Burrage, Lindsay C; Charng, Wu-Lin; Eldomery, Mohammad K; Willer, Jason R; Davis, Erica E; Lugtenberg, Dorien; Zhu, Wenmiao; Leduc, Magalie S; Akdemir, Zeynep C; Azamian, Mahshid; Zapata, Gladys; Hernandez, Patricia P; Schoots, Jeroen; de Munnik, Sonja A; Roepman, Ronald; Pearring, Jillian N; Jhangiani, Shalini; Katsanis, Nicholas; Vissers, Lisenka E L M; Brunner, Han G; Beaudet, Arthur L; Rosenfeld, Jill A; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Xia, Fan; Lalani, Seema R; Lupski, James R; Bongers, Ernie M H F; Yang, Yaping

    2015-12-03

    Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome known to be caused by biallelic loss-of-function mutations in one of five genes encoding pre-replication complex proteins: ORC1, ORC4, ORC6, CDT1, and CDC6. Mutations in these genes cause disruption of the origin of DNA replication initiation. To date, only an autosomal-recessive inheritance pattern has been described in individuals with this disorder, with a molecular etiology established in about three-fourths of cases. Here, we report three subjects with MGS and de novo heterozygous mutations in the 5' end of GMNN, encoding the DNA replication inhibitor geminin. We identified two truncating mutations in exon 2 (the 1(st) coding exon), c.16A>T (p.Lys6(∗)) and c.35_38delTCAA (p.Ile12Lysfs(∗)4), and one missense mutation, c.50A>G (p.Lys17Arg), affecting the second-to-last nucleotide of exon 2 and possibly RNA splicing. Geminin is present during the S, G2, and M phases of the cell cycle and is degraded during the metaphase-anaphase transition by the anaphase-promoting complex (APC), which recognizes the destruction box sequence near the 5' end of the geminin protein. All three GMNN mutations identified alter sites 5' to residue Met28 of the protein, which is located within the destruction box. We present data supporting a gain-of-function mechanism, in which the GMNN mutations result in proteins lacking the destruction box and hence increased protein stability and prolonged inhibition of replication leading to autosomal-dominant MGS. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  19. Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.

    Science.gov (United States)

    Dauber, Andrew; Lafranchi, Stephen H; Maliga, Zoltan; Lui, Julian C; Moon, Jennifer E; McDeed, Cailin; Henke, Katrin; Zonana, Jonathan; Kingman, Garrett A; Pers, Tune H; Baron, Jeffrey; Rosenfeld, Ron G; Hirschhorn, Joel N; Harris, Matthew P; Hwa, Vivian

    2012-11-01

    Microcephalic primordial dwarfism (MPD) is a rare, severe form of human growth failure in which growth restriction is evident in utero and continues into postnatal life. Single causative gene defects have been identified in a number of patients with MPD, and all involve genes fundamental to cellular processes including centrosome functions. The objective of the study was to find the genetic etiology of a novel presentation of MPD. The design of the study was whole-exome sequencing performed on two affected sisters in a single family. Molecular and functional studies of a candidate gene were performed using patient-derived primary fibroblasts and a zebrafish morpholino oligonucleotides knockdown model. Two sisters presented with a novel subtype of MPD, including severe intellectual disabilities. NIN, encoding Ninein, a centrosomal protein critically involved in asymmetric cell division, was identified as a candidate gene, and functional impacts in fibroblasts and zebrafish were studied. From 34,606 genomic variants, two very rare missense variants in NIN were identified. Both probands were compound heterozygotes. In the zebrafish, ninein knockdown led to specific and novel defects in the specification and morphogenesis of the anterior neuroectoderm, resulting in a deformity of the developing cranium with a small, squared skull highly reminiscent of the human phenotype. We identified a novel clinical subtype of MPD in two sisters who have rare variants in NIN. We show, for the first time, that reduction of ninein function in the developing zebrafish leads to specific deficiencies of brain and skull development, offering a developmental basis for the myriad phenotypes in our patients.

  20. Overexpression of CHMP7 from rapeseed and Arabidopsis causes dwarfism and premature senescence in Arabidopsis.

    Science.gov (United States)

    Yang, Hongli; Liu, Jing; Lin, Jiulu; Deng, Linbin; Fan, Shihang; Guo, Yan; Sun, Fengming; Hua, Wei

    2016-10-01

    Endosomal sorting complexes required for transport (ESCRT) are well known in mammalians and yeast and plays an essential role in the formation of multi-vesicular bodies. Accumulating evidence has shown that ESCRT proteins contribute to proper plant development. CHMP7 (charged multi-vesicular body protein 7) is an ESCRT-III-related protein and functions in the endosomal sorting pathway in humans. However, its function in plants has not been explored in detail. In this study, we isolate the putative homolog of CHMP7 from rapeseed, BnCHMP7, which contains eight exons and encodes a protein consisting of 423 amino acid residues. Compared with the wild-type, overexpression of BnCHMP7 in Arabidopsis disturbs plant growth and decreases seed yield. Moreover, the transgenic plants also display early leaf senescence and hypersensitivity to dark treatment due to defects in autophagic degradation. Further study showed that BnCHMP7 is highly expressed in leaves and that YFP-BnCHMP7 is predominantly localized in endosome. Compared with human CHMP7, we found that BnCHMP7 not only interacts with ESCRT-III subunits SNF7.2 (CHMP4B), but also with VPS2.2 and CHMP1B. As expected, microarray analysis revealed that the expression of ESCRT transport genes is significantly affected. Additionally, the expression of some genes that are involved in senescence, protein synthesis and protein degradation is also altered in BnCHMP7-overexpressing plants. Taken together, BnCHMP7 encodes an endosome-localized protein, which causes dwarfism and leaf senescence as an ESCRT-III-related component. Copyright © 2016 Elsevier GmbH. All rights reserved.

  1. Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype.

    Science.gov (United States)

    Bober, Michael B; Khan, Nadia; Kaplan, Jennifer; Lewis, Kristi; Feinstein, Jeffrey A; Scott, Charles I; Steinberg, Gary K

    2010-04-01

    Majewski Osteodysplastic Primordial Dwarfism, Type II (MOPD II) is a rare, autosomal recessive disorder. Features include severe intrauterine growth retardation (IUGR), poor postnatal growth (adult stature approximately 100 cm), severe microcephaly, skeletal dysplasia, characteristic facial features, and normal or near normal intelligence. An Institutional Review Board (IRB) approved registry was created and currently follows 25 patients with a diagnosis of MOPD II. Based on previous studies, a neurovascular screening program was implemented and 13 (52%) of these patients have been found to have cerebral neurovascular abnormalities including moyamoya angiopathy and/or intracranial aneurysms. The typical moyamoya pathogenesis begins with vessel narrowing in the supraclinoid internal carotid artery, anterior cerebral (A1) or middle cerebral (M1) artery segments. The narrowing may predominate initially on one side, progresses to bilateral stenosis, with subsequent occlusion of the vessels and collateral formation. We present four patients who, on neurovascular screening, were found to have cerebrovascular changes. Two were asymptomatic, one presented with a severe headache and projectile vomiting related to a ruptured aneurysm, and one presented after an apparent decline in cognitive functioning. Analysis of the registry suggests screening for moyamoya disease be performed at the time of MOPD II diagnosis and at least every 12-18 months using MRA or computerized tomographic angiography (CTA). We believe this is imperative. If diagnosed early enough, re-vascularization and aneurysm treatment in skilled hands can be performed safely and prevent or minimize long-term sequelae in this population. Emergent evaluation is also needed when other neurologic or cardiac symptoms are present. (c) 2010 Wiley-Liss, Inc.

  2. Pituitary infiltration by non-Hodgkin's lymphoma: a case report

    Directory of Open Access Journals (Sweden)

    Aral Ferihan

    2009-11-01

    Full Text Available Abstract Introduction Pituitary adenomas represent the most frequently observed type of sellar masses; however, the presence of a rapidly growing sellar tumor, diabetes insipidus, ophthalmoplegia and headaches in an older patient strongly suggests metastasis to the pituitary. Since the anterior pituitary has a great reserve capacity, metastasis to the pituitary and pituitary involvement in lymphoma are usually asymptomatic. Whereas diabetes insipidus is the most frequent symptom, patients can present with headaches, ophthalmoplegia and bilateral hemianopsia. Case presentation A 70-year-old woman with no previous history of malignancy presented with headaches, right oculomotor nerve palsy and diabetes insipidus. As magnetic resonance imaging revealed a sellar mass involving the pituitary gland and infundibular stalk, which also extended into the right cavernous sinus and sphenoid sinus, the patient underwent an immediate transsphenoidal decompression surgery. Her prolactin was 102.4 ng/ml, whereas her gonadotropic hormone levels were low. A low level of urine osmolality after overnight water deprivation, along with normal plasma osmolality suggested diabetes insipidus. Histological examination revealed that the mass had been the infiltration of a high grade B-cell non-Hodgkin's lymphoma involving respiratory system epithelial cells. Paranasal sinus computed tomography scanning and magnetic resonance imaging of the thorax and abdomen were performed. Since magnetic resonance imaging did not reveal any abnormality, after paranasal sinus computed tomography was performed, we concluded that the primary lymphoma originated from the sphenoid sinus and infiltrated the pituitary. Chemotherapy and radiotherapy to the sellar area were planned, but the patient died and her family did not permit an autopsy. Conclusion Lymphoma infiltration to the pituitary is difficult to differentiate from pituitary adenoma, meningioma and other sellar lesions. To plan the

  3. Preoperative preparation of patients with pituitary gland disorders.

    Science.gov (United States)

    Malenković, Vesna; Gvozdenović, Ljiljana; Milaković, Branko; Sabljak, Vera; Ladjević, Nebojsa; Zivaljević, Vladan

    2011-01-01

    This paper presents the most common disorders of pituitary function: acromegaly, hypopituitarism, diabetes insipidus and syndrome similar to diabetes insipidus, in terms of their importance in preoperative preparation of patients. Pituitary function manages almost the entire endocrine system using the negative feedback mechanism that is impaired by these diseases. The cause of acromegaly is a pituitary adenoma, which produces growth hormone in adults. Primary therapy of acromegaly is surgical, with or without associated radiotherapy. If a patient with acromegaly as comorbidity prepares for non-elective neurosurgical operation, then it requires consultation with brain surgeons for possible delays of that operation and primary surgical treatment of pituitary gland. If operative treatment of pituitary gland is carried out, the preoperative preparation (for other surgical interventions) should consider the need for perioperative glucocorticoid supplementation. Panhypopituitarism consequences are different in children and adults and the first step in diagnosis is to assess the function of target organs. Change of electrolytes and water occurs in the case of pituitary lesions in the form of central or nephrogenic diabetes insipidus as a syndrome of inappropriate secretion of antidiuretic hormone (SIADH). Preoperative preparation of patients with pituitary dysfunction should be multidisciplinary, whether it is a neurosurgical or some other surgical intervention. The aim is to evaluate the result of insufficient production of pituitary hormones (hypopituitarism), excessive production of adenohypophysis hormones (acromegaly, Cushing's disease and hyperprolactinemia) and the influence of pituitary tumours in surrounding structures (compression syndrome) and to determine the level of perioperative risk. Pharmacological suppressive therapy of the hyperfunctional pituitary disorders can have significant interactions with drugs used in the perioperative period.

  4. Functional heterogeneity among cell types in the normal pituitary gland and in human and rat pituitary tumors.

    NARCIS (Netherlands)

    L.J. Hofland (Leo)

    1989-01-01

    textabstractHormone secretion by the anterior pituitary gland is under control of hypothalamic regulatory factorsjhormones (see chapter I.l) and peripheral hormones. Apart from the direct effects of these hormones on anterior pituitary hormone secretion several fine- regulatory mechanisms

  5. GROWTH HORMONE-, ALPHA-SUBUNIT AND THYROTROPIN-COSECRETING PITUITARY-ADENOMA IN FAMILIAL SETTING OF PITUITARY-TUMOR

    NARCIS (Netherlands)

    LINKS, TP; MONKELBAAN, JF; DULLAART, RPF; VANHAEFTEN, TW

    1993-01-01

    A patient with acromegaly and hyperthyroidism due to a growth hormone-, thyrotrophin- and alpha-subunit-secreting pituitary adenoma is described. His deceased father had suffered from a pituitary tumour, and was likely to have had acromegaly as well. Plasma growth hormone and insulin-like growth

  6. Endoscopic transnasal approach for removing pituitary tumors

    Directory of Open Access Journals (Sweden)

    Mirian Cabral Moreira de Castro

    2014-05-01

    Full Text Available To describe a series of 129 consecutive patients submitted to the resection of pituitary tumors using the endoscopic transsphenoidal approach in a public medical center. Method: Retrospective analysis based on the records of patients submitted to the resection of a pituitary tumor through the endoscopic transsphenoidal approach between 2004 and 2009. Results: One hundred and twenty-nine records were analyzed. The tumor was non-secreting in 96 (74.42% and secreting in 33 patients (22.58%. Out of the secretory tumors, the most prevalent was the growth hormone producer (7.65%, followed by the prolactinoma, (6.98%. Eleven patients developed cerebral spinal fluid (CSF fistulas, and four of them developed meningitis. One patient died due to intracerebral hemorrhage in the postoperative period. Conclusion: The endoscopic transsphenoidal approach to sellar tumors proved to be safe when the majority of the tumors were non-secreting. The most frequent complication was CSF. This technique can be done even in a public hospital with financial limits, since the health professionals are integrated.

  7. Lymphocitic infundibuloneurohypophysitis mimicking a pituitary adenoma

    Directory of Open Access Journals (Sweden)

    Hubertus Maximilian Mehdorn

    2011-04-01

    Full Text Available A rare case of infundibulo-neurohypophysitis mimicking a pituitary adenoma is presented. A 69-years-old female patient developed polyuria and polydipsia. Laboratory analysis revealed central diabetes insipidus. No hormonal abnormalities. Cranial-magnetic resonance imaging (MRI showed a left sided mass in the adenohypophysis presuming a pituitary adenoma. The mass had contact to both internal carotids. Admission to our department for neurosurgical treatment followed. Ophthalmo - logic examination and neurological examination yielded normal findings. A second MRI focussing on the sellar-region showed a leftsided (T2-MRI.hyperintense, distended adenohypophysis, without contrast enhancement in T1. The stalk appeared thickened. T1- weighted sequences of the neurohypophysis showed loss of signal intensity. We diagnosed an infundibulo-neurohypophysitis and abstai - ned from surgical removal. The patient was discharged under treatment with corticosteroids and desmopressin. Hypophysitis is rare and shows special clinical characteristics. Despite defined radiological features to differentiate between hypophysitis and adenoma the possibility of misdiagnosis, and unnecessary surgical procedures, should always kept in mind.

  8. Adipocyte Versus Pituitary Leptin in the Regulation of Pituitary Hormones: Somatotropes Develop Normally in the Absence of Circulating Leptin

    Science.gov (United States)

    Odle, Angela K.; Haney, Anessa; Allensworth-James, Melody; Akhter, Noor

    2014-01-01

    Leptin is a cytokine produced by white fat cells, skeletal muscle, the placenta, and the pituitary gland among other tissues. Best known for its role in regulating appetite and energy expenditure, leptin is produced largely by and in proportion to white fat cells. Leptin is also important to the maintenance and function of the GH cells of the pituitary. This was shown when the deletion of leptin receptors on somatotropes caused decreased numbers of GH cells, decreased circulating GH, and adult-onset obesity. To determine the source of leptin most vital to GH cells and other pituitary cell types, we compared two different leptin knockout models with Cre-lox technology. The global Lep-null model is like the ob/ob mouse, whereby only the entire exon 3 is deleted. The selective adipocyte-Lep-null model lacks adipocyte leptin but retains pituitary leptin, allowing us to investigate the pituitary as a potential source of circulating leptin. Male and female mice lacking adipocyte leptin (Adipocyte-lep-null) did not produce any detectable circulating leptin and were infertile, suggesting that the pituitary does not contribute to serum levels. In the presence of only pituitary leptin, however, these same mutants were able to maintain somatotrope numbers and GH mRNA levels. Serum GH trended low, but values were not significant. However, hypothalamic GHRH mRNA was significantly reduced in these animals. Other serum hormone and pituitary mRNA differences were observed, some of which varied from previous results reported in ob/ob animals. Whereas pituitary leptin is capable of maintaining somatotrope numbers and GH mRNA production, the decreased hypothalamic GHRH mRNA and low (but not significant) serum GH levels indicate an important role for adipocyte leptin in the regulation of GH secretion in the mouse. Thus, normal GH secretion may require the coordinated actions of both adipocyte and pituitary leptin. PMID:25116704

  9. Phenotypic characterization of the Komeda miniature rat Ishikawa, an animal model of dwarfism caused by a mutation in Prkg2.

    Science.gov (United States)

    Tsuchida, Atsuko; Yokoi, Norihide; Namae, Misako; Fuse, Masanori; Masuyama, Taku; Sasaki, Masashi; Kawazu, Shoji; Komeda, Kajuro

    2008-12-01

    The Komeda miniature rat Ishikawa (KMI) is a spontaneous animal model of dwarfism caused by a mutation in Prkg2, which encodes cGMP-dependent protein kinase type II (cGKII). This strain has been maintained as a segregating inbred strain for the mutated allele mri. In this study, we characterized the phenotype of the KMI strain, particularly growth traits, craniofacial measurements, and organ weights. The homozygous mutant (mri/mri) animals were approximately 70% to 80% of the size of normal, heterozygous (mri/+) animals in regard to body length, weight, and naso-occipital length of the calvarium, and the retroperitoneal fat of mri/mri rats was reduced greatly. In addition, among progeny of the (BNxKMI-mri/mri)F1xKMI-mri/mri backcross, animals with the KMI phenotype (mri/mri) were easily distinguished from those showing the wild-type phenotype (mri/+) by using growth traits such as body length and weight. Genetic analysis revealed that all of the backcrossed progeny exhibiting the KMI phenotype were homozygous for the KMI allele in the 1.2-cM region between D14Rat5 and D14Rat80 on chromosome 14, suggesting strongly that mri acts in a completely recessive manner. The KMI strain is the first and only rat model with a confirmed mutation in Prkg2 and is a valuable model for studying dwarfism and longitudinal growth traits in humans and for functional studies of cGKII.

  10. Catalytically Active Guanylyl Cyclase B Requires Endoplasmic Reticulum-mediated Glycosylation, and Mutations That Inhibit This Process Cause Dwarfism.

    Science.gov (United States)

    Dickey, Deborah M; Edmund, Aaron B; Otto, Neil M; Chaffee, Thomas S; Robinson, Jerid W; Potter, Lincoln R

    2016-05-20

    C-type natriuretic peptide activation of guanylyl cyclase B (GC-B), also known as natriuretic peptide receptor B or NPR2, stimulates long bone growth, and missense mutations in GC-B cause dwarfism. Four such mutants (L658F, Y708C, R776W, and G959A) bound (125)I-C-type natriuretic peptide on the surface of cells but failed to synthesize cGMP in membrane GC assays. Immunofluorescence microscopy also indicated that the mutant receptors were on the cell surface. All mutant proteins were dephosphorylated and incompletely glycosylated, but dephosphorylation did not explain the inactivation because the mutations inactivated a "constitutively phosphorylated" enzyme. Tunicamycin inhibition of glycosylation in the endoplasmic reticulum or mutation of the Asn-24 glycosylation site decreased GC activity, but neither inhibition of glycosylation in the Golgi by N-acetylglucosaminyltransferase I gene inactivation nor PNGase F deglycosylation of fully processed GC-B reduced GC activity. We conclude that endoplasmic reticulum-mediated glycosylation is required for the formation of an active catalytic, but not ligand-binding domain, and that mutations that inhibit this process cause dwarfism. © 2016 by The American Society for Biochemistry and Molecular Biology, Inc.

  11. Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Bonaventure, J.; Rousseau, F.; Legeai-Mallet, L.; LeMerrer, M.; Munnich, A.; Maroteaux, P. [INSERM, Paris (France)

    1996-05-03

    The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identification of a recurrent missense mutation (G380R) in the fibroblast growth factor receptor 3 (FGFR-3) gene has been followed by the detection of common FGFR-3 mutations in two clinically related disorders: thanatophoric dwarfism (types I and II) and hypochondroplasia. The relative clinical homogeneity of achondroplasia was substantiated by demonstration of its genetic homogeneity as more than 98% of all patients hitherto reported exhibit mutations in the transmembrane receptor domain. Although most hypochondroplasia cases were accounted for by a recurrent missense substitution (N540K) in the first tyrosine kinase (TK 1) domain of the receptor, a significant proportion (40%) of our patients did not harbor the N540K mutation and three hypochondroplasia families were not linked to the FGFR-3 locus, thus supporting clinical heterogeneity of this condition. In thanatophoric dwarfism (TD), a recurrent FGFR-3 mutation located in the second tyrosine kinase (TK 2) domain of the receptor was originally detected in 100% of TD II cases; in our series, seven distinct mutations in three different protein domains were identified in 25 of 26 TD I patients, suggesting that TD, like achondroplasia, is a genetically homogenous skeletal disorder. 31 refs., 4 figs., 2 tabs.

  12. Novel splice site mutation in the growth hormone receptor gene in Turkish patients with Laron-type dwarfism.

    Science.gov (United States)

    Arman, Ahmet; Ozon, Alev; Isguven, Pinar S; Coker, Ajda; Peker, Ismail; Yordam, Nursen

    2008-01-01

    Growth hormone (GH) is involved in growth, and fat and carbohydrate metabolism. Interaction of GH with the GH receptor (GHR) is necessary for systemic and local production of insulin-like growth factor-I (IGF-I) which mediates GH actions. Mutations in the GHR cause severe postnatal growth failure; the disorder is an autosomal recessive genetic disease resulting in GH insensitivity, called Laron syndrome. It is characterized by dwarfism with elevated serum GH and low levels of IGF-I. We analyzed the GHR gene for mutations and polymorphisms in eight patients with Laron-type dwarfism from six families. We found three missense mutations (S40L, V125A, I526L), one nonsense mutation (W157X), and one splice site mutation in the extracellular domain of GHR. Furthermore, G168G and exon 3 deletion polymorphisms were detected in patients with Laron syndrome. The splice site mutation, which is a novel mutation, was located at the donor splice site of exon 2/ intron 2 within GHR. Although this mutation changed the highly conserved donor splice site consensus sequence GT to GGT by insertion of a G residue, the intron splicing between exon 2 and exon 3 was detected in the patient. These results imply that the splicing occurs arthe GT site in intron 2, leaving the extra inserted G residue at the end of exon 2, thus changing the open reading frame of GHR resulting in a premature termination codon in exon 3.

  13. Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an evidence-based proposal.

    Science.gov (United States)

    Perry, Luke D; Robertson, Fergus; Ganesan, Vijeya

    2013-04-01

    Microcephalic osteodysplastic primordial dwarfism type II (OMIM 210720) is a rare autosomal recessive condition frequently associated with early-onset cerebrovascular disease. Presymptomatic detection and intervention could prevent the adverse consequences associated with this. We reviewed published cases of microcephalic osteodysplastic primordial dwarfism type II to ascertain prevalence and characteristics of cerebrovascular disease and use these data to propose an evidence-based approach to cerebrovascular screening. Of 147 cases identified, 47 had cerebrovascular disease (32%), including occlusive arteriopathy (including moyamoya) and cerebral aneurysmal disease. Occlusive disease occurred in younger individuals, and progression can be both rapid and clinically silent. A reasonable screening approach would be magnetic resonance imaging and angiography of the cervical and intracranial circulation at diagnosis, repeated at yearly intervals until 10 years, and every 2 years thereafter, unless clinical concerns occur earlier. At present it would appear that this needs to be life-long. Families and professionals should be alerted to the potential significance of neurologic symptoms and measures should be taken to maintain good vascular health in affected individuals. Copyright © 2013 Elsevier Inc. All rights reserved.

  14. Microcephalic osteodysplastic primordial dwarfism (MOPD type I with severe anemia and MRI brain findings of MOPD type II

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2017-10-01

    Full Text Available We report a 4 month old male, 4th in order of birth of healthy consanguineous Egyptian parents with typical characteristics of microcephalic osteodysplastic primordial dwarfism most probably belongs to type I (MOPD I. The patient had intrauterine growth retardation, sparse scalp hair, sparse eyebrows and eyelashes, high arched palate, micrognathia, low set ears, short neck, clenched fists, groove between thumb and palm of hand, arachnodactyly, flexion contractures of elbow and knee. He also had thin dry skin with marked decreased subcutaneous fat and prominent superficial veins over chest and abdomen and mild hypertrichosis over lower back and buttocks. However, the patient had severe anemia and MRI brain findings revealed global hypovolemic brain changes in the form of dilated ventricles and widened cortical sulci, multiple old vascular insults and aneurismal dilatation of right internal carotid artery (ICA which are consistent with MOPD II. Keywords: Microcephalic osteodysplastic primordial dwarfism type I, Intrauterine growth retardation, Dilatation of internal carotid artery, Severe anemia, Skeletal anomalies, Subcutaneous fat, Superficial veins on skin, Aneurysm of internal carotid artery

  15. Primary hypothyroidism mimicking a pituitary macroadenoma: regression after thyroid hormone replacement therapy

    International Nuclear Information System (INIS)

    Eom, Ki Seong; Kim, Jong Moon; Kim, Tae Young; See-Sung, Choi; Kim, Jong Duck

    2009-01-01

    We report a 9-year-old girl with pituitary hyperplasia due to primary hypothyroidism. She presented with growth arrest, abnormal thyroid function studies, and a pituitary mass on MRI. With thyroxine therapy, the pituitary mass regressed and her symptoms resolved. Primary hypothyroidism should be considered in the differential diagnosis of solid mass lesions of the pituitary gland. (orig.)

  16. Primary hypothyroidism mimicking a pituitary macroadenoma: regression after thyroid hormone replacement therapy

    Energy Technology Data Exchange (ETDEWEB)

    Eom, Ki Seong; Kim, Jong Moon; Kim, Tae Young [Wonkwang University School of Medicine, Department of Neurosurgery, Iksan (Korea); See-Sung, Choi [Wonkwang University School of Medicine, Department of Radiology, Iksan (Korea); Kim, Jong Duck [Wonkwang University School of Medicine, Department of Pediatrics, Iksan (Korea)

    2009-02-15

    We report a 9-year-old girl with pituitary hyperplasia due to primary hypothyroidism. She presented with growth arrest, abnormal thyroid function studies, and a pituitary mass on MRI. With thyroxine therapy, the pituitary mass regressed and her symptoms resolved. Primary hypothyroidism should be considered in the differential diagnosis of solid mass lesions of the pituitary gland. (orig.)

  17. Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism.

    Science.gov (United States)

    Shaheen, Ranad; Abdel-Salam, Ghada M H; Guy, Michael P; Alomar, Rana; Abdel-Hamid, Mohamed S; Afifi, Hanan H; Ismail, Samira I; Emam, Bayoumi A; Phizicky, Eric M; Alkuraya, Fowzan S

    2015-09-28

    Primordial dwarfism is a state of extreme prenatal and postnatal growth deficiency, and is characterized by marked clinical and genetic heterogeneity. Two presumably unrelated consanguineous families presented with an apparently novel form of primordial dwarfism in which severe growth deficiency is accompanied by distinct facial dysmorphism, brain malformation (microcephaly, agenesis of corpus callosum, and simplified gyration), and severe encephalopathy with seizures. Combined autozygome/exome analysis revealed a novel missense mutation in WDR4 as the likely causal variant. WDR4 is the human ortholog of the yeast Trm82, an essential component of the Trm8/Trm82 holoenzyme that effects a highly conserved and specific (m(7)G46) methylation of tRNA. The human mutation and the corresponding yeast mutation result in a significant reduction of m(7)G46 methylation of specific tRNA species, which provides a potential mechanism for primordial dwarfism associated with this lesion, since reduced m(7)G46 modification causes a growth deficiency phenotype in yeast. Our study expands the number of biological pathways underlying primordial dwarfism and adds to a growing list of human diseases linked to abnormal tRNA modification.

  18. Pituitary null cell adenoma in a domestic llama (Lama glama).

    Science.gov (United States)

    Chalkley, M D; Kiupel, M; Draper, A C E

    2014-07-01

    Pituitary gland neoplasia has been reported rarely in camelids. A 12-year-old neutered male llama (Lama glama) presented with lethargy, inappetence and neurological signs. On physical examination, the llama was mentally dull and exhibited compulsive pacing and circling to the left. Complete blood count and serum biochemistry revealed haemoconcentration, mild hypophosphataemia, hyperglycaemia, hypercreatininaemia and hyperalbuminaemia. Humane destruction was elected due to rapid clinical deterioration and poor prognosis. Post-mortem examination revealed a pituitary macroadenoma and bilateral internal hydrocephalus. Microscopically, the pituitary tumour was composed of neoplastic chromophobic pituitary cells. Ultrastructural studies revealed similar neoplastic cells to those previously described in human null cell adenomas. Immunohistochemically, the neoplastic cells were strongly immunoreactive for neuroendocrine markers (synaptophysin and chromogranin A), but did not exhibit immunoreactivity for epithelial, mesenchymal, neuronal and all major pituitary hormone markers (adrenocorticotropic hormone, follicle stimulating hormone, growth hormone, luteinizing hormone, melanocyte-stimulating hormone, prolactin and thyroid stimulating hormone), consistent with the diagnosis of a pituitary null cell adenoma. This is the first report of pituitary neoplasia in a llama. Copyright © 2014 Elsevier Ltd. All rights reserved.

  19. Pituitary abscess in an HIV-1-infected patient

    Directory of Open Access Journals (Sweden)

    Hiroyuki Yamazaki

    2017-04-01

    Full Text Available Objectives: Pituitary abscess is a rare occurrence among pituitary conditions, but one which carries life-threatening potential. An immunocompromised status is a risk factor for the development of a pituitary abscess; however, literature describes only one case among HIV-infected patients. Methods and results: We present here a case of pituitary abscess in an HIV-1-positive patient, who demonstrated a shock status, disturbance of consciousness and generalized skin rash with laboratory findings of hypovolemia, acute inflammatory reaction and blood electrolyte abnormality. We first diagnosed the dermal manifestation as atypical generalized zoster, however, the other clinical findings could not be explained by VZV infection only. Combination with anamnesis, head magnetic resonance imaging scan and endocrine function test helped us to diagnose pituitary abscess. Although the etiology of the pituitary abscess could not be detected, the patient was successfully treated with antibiotics but followed by panhypopituitarism as sequela. Conclusion: A pituitary abscess should be considered in HIV-infected patients with endocrinological abnormalities, visual field defects, and central nervous system infection signs or symptoms, regardless of CD4 T-cell counts.

  20. Cushing-type ectopic pituitary adenoma with unusual pathologic features

    Directory of Open Access Journals (Sweden)

    Kristopher T. Kimmell, MD

    2014-06-01

    Full Text Available Ectopic pituitary adenomas comprise, by varying reports, approximately 1-2% of all pituitary adenomas. They are often located in the nasopharyngeal region associated with the pharyngeal pituitary. The location and pathologic features of these masses make them atypical when compared with intrasellar pituitary adenomas. A 54-year-old man presented with vertebral compression fracture and physical stigmata of Cushing’s disease. Biochemical testing confirmed hypercortisolemia responsive to high dose dexamethasone suppression. MRI of the head demonstrated an enhancing mass in the posterior aspect of the sphenoid sinus not involving the sella turcica. Endoscopic biopsy followed by resection confirmed this mass to be a pituitary adenoma with unusual pathologic features. Most notably, the tumor cells demonstrated large, eosinophilic, vacuolated cytoplasm. Immunohistochemical profile of the tumor was typical of an ACTH secreting tumor, notably with positivity for ACTH. The patient did well from his surgery. Post-operatively his serum cortisol level normalized and he remains in chemical remission one year after surgery. Ectopic pituitary adenomas are an unusual manifestation of hormonally active pituitary neoplastic disease. Their atypical clinical presentations, location, and pathologic features can make them a diagnostic challenge. Clinicians should be aware of these entities, especially when considering differential diagnosis for a mass in the sphenoid sinus and nasopharyngeal region.

  1. Development and sexual dimorphism of the pituitary gland.

    Science.gov (United States)

    MacMaster, Frank P; Keshavan, Matcheri; Mirza, Yousha; Carrey, Normand; Upadhyaya, Ameet R; El-Sheikh, Rhonda; Buhagiar, Christian J; Taormina, S Preeya; Boyd, Courtney; Lynch, Michelle; Rose, Michelle; Ivey, Jennifer; Moore, Gregory J; Rosenberg, David R

    2007-02-13

    The pituitary gland plays a central role in sexual development and brain function. Therefore, we examined the effect of age and gender on pituitary volume in a large sample of healthy children and adults. Volumetric magnetic resonance imaging (MRI) was conducted in one hundred and fifty four (77 males and 77 females) healthy participants. Males were between the ages of 7 to 35 years (16.91+/-5.89 years) and females were 7 to 35 years of age (16.75+/-5.75 years). Subjects were divided into subgroups of age (7 to 9, 10 to 13, 14 to 17, 18 to 21, 22 and older) and sex (male/female). Pituitary gland volume differed between sexes when comparing the age groups (F=3.55, df=2, 143, p=0.03). Females demonstrated larger pituitary glands than males in the age 14 to 17 year old groups (p=0.04). Young (19 years and under) and old (20 years and older) females demonstrated a correlation between pituitary volume and age. Males did not show this relationship. These findings provide additional evidence for gender differences in the normative anatomy of the pituitary and may have relevance for the study of various childhood onset neuropsychiatric disorders in which pituitary dysfunction has been implicated.

  2. Recent Progress in the Medical Therapy of Pituitary Tumors

    Directory of Open Access Journals (Sweden)

    Fabienne Langlois

    2017-05-01

    Full Text Available Management of pituitary tumors is multidisciplinary, with medical therapy playing an increasingly important role. With the exception of prolactin-secreting tumors, surgery is still considered the first-line treatment for the majority of pituitary adenomas. However, medical/pharmacological therapy plays an important role in controlling hormone-producing pituitary adenomas, especially for patients with acromegaly and Cushing disease (CD. In the case of non-functioning pituitary adenomas (NFAs, pharmacological therapy plays a minor role, the main objective of which is to reduce tumor growth, but this role requires further studies. For pituitary carcinomas and atypical adenomas, medical therapy, including chemotherapy, acts as an adjuvant to surgery and radiation therapy, which is often required to control these aggressive tumors. In the last decade, knowledge about the pathophysiological mechanisms of various pituitary adenomas has increased, thus novel medical therapies that target specific pathways implicated in tumor synthesis and hormonal over secretion are now available. Advancement in patient selection and determination of prognostic factors has also helped to individualize therapy for patients with pituitary tumors. Improvements in biochemical and “tumor mass” disease control can positively affect patient quality of life, comorbidities and overall survival. In this review, the medical armamentarium for treating CD, acromegaly, prolactinomas, NFA, and carcinomas/aggressive atypical adenomas will be presented. Pharmacological therapies, including doses, mode of administration, efficacy, adverse effects, and use in special circumstances are provided. Medical therapies currently under clinical investigation are also briefly discussed.

  3. Clinical and genetic aspects of familial isolated pituitary adenomas

    Directory of Open Access Journals (Sweden)

    Vladimir Vasilev

    2012-01-01

    Full Text Available Pituitary adenomas represent a group of functionally diverse neoplasms with relatively high prevalence in the general population. Most occur sporadically, but inherited genetic predisposing factors are increasingly recognized. Familial isolated pituitary adenoma is a recently defined clinical entity, and is characterized by hereditary presentation of pituitary adenomas in the absence of clinical and genetic features of syndromic disease such as multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenoma is inherited in an autosomal dominant manner and accounted for approximately 2-3% of pituitary tumors in some series. Germline mutations in the aryl-hydrocarbon interacting protein gene are identified in around 25% of familial isolated pituitary adenoma kindreds. Pituitary adenomas with mutations of the aryl-hydrocarbon interacting protein gene are predominantly somatotropinomas and prolactinomas, but non-functioning adenomas, Cushing disease, and thyrotropinoma may also occur. These tumors may present as macroadenomas in young patients and are often relatively difficult to control. Furthermore, recent evidence indicates that aryl-hydrocarbon interacting protein gene mutations occur in >10% of patients with sporadic macroadenomas that occur before 30 years of age, and in >20% of children with macroadenomas. Genetic screening for aryl-hydrocarbon interacting protein gene mutations is warranted in selected high-risk patients who may benefit from early recognition and follow-up.

  4. Pituitary volumes are changed in patients with conversion disorder.

    Science.gov (United States)

    Atmaca, Murad; Baykara, Sema; Mermi, Osman; Yildirim, Hanefi; Akaslan, Unsal

    2016-03-01

    Our study group previously measured pituitary volumes and found a relationship between somatoform disoders and pituitary volumes. Therefore, in conversion disorder, another somatoform disorder, we hypothesized that pituitary gland volumes would be reduced. Twenty female patients and healthy controls were recruited to the present investigation. The volumes of the pituitary gland were determined by using a 1.5 Tesla magnetic resonance scanner. We found that the pituitary gland volumes of the patients with conversion disorder were significantly smaller than those of healthy control subjects. In the patients with conversion disorder but not in the healthy control group, a significant negative correlation between the duration of illness and pituitary gland volume was determined. In summary, in the present study, we suggest that the patients with conversion disorder have smaller pituitary volumes compared to those of healthy control subjects. Further studies should confirm our data and ascertain whether volumetric alterations determined in the patients with conversion disorder can be changed with treatment or if they change over time.

  5. Pituitary gland and its stalk observed by high resolution CT

    International Nuclear Information System (INIS)

    Nakagawa, Yoshinobu; Fukami, Tsuneharu; Matsumoto, Keizo.

    1982-01-01

    It seemed to be important to recognize the CT findings of normal pituitary gland and the stalk for the acurate morphological diagnosis of pituitary microadenoma. In a consecutive series of normal 103 cases, the CT scans obtained by high resolution CT (CE-CT, Metrizamide CT) were analized and compared with 6 cases of microadenoma. The pituitary stalk demonstrated by the reconstructed coronal CT was examined and the inclination of the stalk was measured. The mean value of the inclination of pituitary stalk was 1.4 +- 1.7 0 in normal group and 9.3 +- 2.4 0 in microadenoma group. The form of the pituitary gland demonstrated by a reconstructed mid-saggital CT were classified into the following 3 types. Type I : The gland filling the whole pituitary fossa. Type II : The gland filled with small CSF space localized in the upper-anterior part in the pituitary fossa. Type III : The enlarged CSF space of more than half of the depth of pituitary fossa and the gland localized in the retro-lower part. As for the shape of pituitary gland, type I was revealed in 26 cases (7 cases in male and 19 cases in female), Type II was revealed in 31 cases (12 cases in male and 19 cases in female), Type III was revealed in 46 cases (25 cases in male and 21 cases in female). Type I was shown in female, especially in 10 years old young female. In 19 cases of 30 years to 40 years female, Type II was shown in 9 cases. In 44 male cases, Type I and Type II were shown in all ages. In the aged, Type III was shown in more than the other types. On the other hand, Type I was noted in 5 out of 6 cases of microadenoma group. (author)

  6. Clinical and histological study of pituitary fibrosarcoma following radiotherapy for pituitary adenoma

    Energy Technology Data Exchange (ETDEWEB)

    Sato, Kazufumi; Hayashi, Minoru; Kubota, Toshihiko; Kawano, Hirokazu; Handa, Yuji [Fukui Medical School, Matsuoka (Japan); Komai, Toshio

    1990-11-01

    A 49-year old male was admitted with a history of radiotherapy for a pituitary adenoma 9 years earlier. Three weeks prior to admission, he noticed visual loss in the left eye. Computed tomography (CT) scan revealed a sellar tumor. The patient underwent craniotomy and the tumor was partially resected. The histological diagnosis was benign pituitary adenoma. Two months after surgery, he began to complain of headache and left hemiparesis. CT scan at that time showed a large parasellar tumor extending into the right temporal lobe. A second craniotomy was performed and a firm tumor was partially removed. Under light microscopy, the tumor was composed of anaplastic spindle cells showing a fascicular pattern. Ultrastructurally, the tumor cells were spindle-shaped with elongated nuclei. The cytoplasm contained numerous distended rough endoplasmic reticula and free ribosomes, Golgi apparatus as well as glycogen granules. Some desmosome-like intercellular adherents were observed. Collagen fibers were scattered in the extracellular space. There was no apparent formation of a basement membrane. These findings suggested a close morphological similarity between tumor cells and fibroblasts, conforming to ultrastructural diagnostic criteria for fibrosarcoma. In spite of intensive treatment, such as a second radiotherapy and subsequent craniotomy, the patient died 9 months after admission. The clinical course and pathological findings of the post-irradiation pituitary fibrosarcoma are discussed. (author).

  7. Separation of cells from the rat anterior pituitary gland

    Science.gov (United States)

    Hymer, W. C.; Hatfield, J. Michael

    1984-01-01

    Data concerned with analyzing the cellular organization of the rat anterior pituitary gland are examined. The preparation of the cell suspensions and the methods used to separate pituitary cell types are described. Particular emphasis is given to velocity sedimentation at unit gravity, density gradient centrifugation, affinity methods, fluorescence activated cell sorting, and density gradient and continuous-flow electrophoresis. The difficulties encountered when attempting to compare data from different pituitary cell separation studies are discussed, and results from various experiments are presented. The functional capabilities of the separated cell populations can be tested in various culture systems.

  8. Cellular and molecular specificity of pituitary gland physiology.

    Science.gov (United States)

    Perez-Castro, Carolina; Renner, Ulrich; Haedo, Mariana R; Stalla, Gunter K; Arzt, Eduardo

    2012-01-01

    The anterior pituitary gland has the ability to respond to complex signals derived from central and peripheral systems. Perception of these signals and their integration are mediated by cell interactions and cross-talk of multiple signaling transduction pathways and transcriptional regulatory networks that cooperate for hormone secretion, cell plasticity, and ultimately specific pituitary responses that are essential for an appropriate physiological response. We discuss the physiopathological and molecular mechanisms related to this integrative regulatory system of the anterior pituitary gland and how it contributes to modulate the gland functions and impacts on body homeostasis.

  9. Addison's disease and ACTH-producing pituitary microadenoma

    Directory of Open Access Journals (Sweden)

    S.S. Ortega

    2015-10-01

    Full Text Available A 28-year-old man diagnosed with primary adrenal insufficiency (Addison's disease in 2002. Following diagnosis, replacement therapy with hydrocortisone and fludrocortisone was indicated. Hydrocortisone replacement therapy was unsuccessful, and increased ACTH levels as high as 996 pg/dl were observed on outpatient follow-up. A pituitary MRI revealed a pituitary microadenoma. These findings raised three possibilities: (1 treatment is insufficient; (2 there is no relationship between Addison's disease and pituitary microadenoma; and (3 the microadenoma is similar to Nelson's syndrome. This latter is the most satisfactory explanation of this patient's clinical picture.

  10. Spontaneous endocrine cure of gigantism due to pituitary apoplexy.

    Science.gov (United States)

    Arisaka, O; Hall, R; Hughes, I A

    1983-10-08

    An 11 year old, tall boy presented with symptoms typical of pituitary apoplexy. A large necrotic and haemorrhagic tumour was removed, which was shown to be an adenoma secreting growth hormone and prolactin. Subsequent treatment comprised cranial irradiation and hormone replacement. Eighteen months after operation growth was static and plasma growth hormone and prolactin concentrations were undetectable. Treatment of pituitary apoplexy should comprise excision of the tumour and postoperative irradiation; such treatment after early recognition of the condition offers the best chance of preserving normal pituitary function in children with gigantism.

  11. Painful vertical diplopia as a presentation of a pituitary mass

    Directory of Open Access Journals (Sweden)

    Mandal Kaveri

    2007-03-01

    Full Text Available Abstract Background Pituitary tumours may present with a variety of neurological and endocrinological signs and symptoms. It is very rare however for them to present with sudden onset painful diplopia. The current literature and possible mechanisms for this are discussed. Case presentation We describe a case of a pituitary mass which presented with sudden onset painful diplopia with an associated restricted pattern on Lees Chart testing. This led to an initial working diagnosis of orbital myositis. Conclusion Awareness of different modes of presentation of pituitary lesions is important so that appropriate imaging may be requested and delay in diagnosis prevented.

  12. Cerebral hemorrhagic infarction after radiation for pituitary adenoma

    International Nuclear Information System (INIS)

    Ogaki, Satoko; Suzuki, Masatsune; Shimano, Hitoshi; Toyoshima, Hideo; Sone, Hirohito; Okuda, Yukichi; Yamada, Nobuhiro

    2002-01-01

    We report a case of cerebral hemorrhagic infarction after radiation for pituitary adenoma. A 55-year-old woman was hospitalized to check for aldosteronism, post-operative pituitary function, and recurrence of thyroid cancer. She had short-term memory disturbance beginning two months prior to admission. Brain MRI showed a T1 and T2 high intensity lesion of her left anterolateral thalamus. Brain MRA revealed a narrowing in her left middle cerebral artery. The abnormal brain lesion was diagnosed as cerebral hemorrhagic infarction. She had received radiation therapy for pituitary adenoma 20 years earlier. It was considered that her cerebral hemorrhagic infarction was caused by radiation therapy. (author)

  13. Value of pituitary MRI in children with short stat

    OpenAIRE

    Huan ZHOU; Ya-ling NIE; Wei FAN; Cong-ying WANG; An-sheng LI; Hong WANG; Meng-meng WU

    2013-01-01

    Objective To explore the value of pituitary MRI in diagnosis of etiology and prognosis in children with short stature. Methods The MRI data of 130 children with short stature admitted from Jan. to Dec. 2012 were retrospectively analyzed. Of the 130 children, 79 were males and 51 were females, aged 3 to 18 years with mean of 9.8 years. Results Of the 130 children, 82 cases (63.1%) were shown to have normal pituitary morphology and signal manifestation, and in 48 cases (36.9%) pituitary morphol...

  14. Pseudotumor of the pituitary due to PROP-1 deletion.

    Science.gov (United States)

    Teinturier, C; Vallette, S; Adamsbaum, C; Bendaoud, M; Brue, T; Bougnères, P F

    2002-01-01

    Hypopituitarism associated with pituitary mass in childhood is most frequently the consequence of craniopharyngioma or Rathke's cleft cyst. We report a patient with an intrasellar pseudotumor associated with hypopituitarism, which led us to a misdiagnosis of intrasellar craniopharyngioma. After spontaneous involution of the mass, diagnosis was revised. DNA analysis showed a deletion in the Prophet of Pit-1 (PROP-1) gene, a pituitary transcription factor. It is important to recognize that a PROP-1 deletion can cause pituitary pseudotumor that can be mistaken for a craniopharyngioma or Rathke's pouch cyst.

  15. Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis

    Energy Technology Data Exchange (ETDEWEB)

    Yekeler, Ensar; Genchellac, Hakan; Dursun, Memduh; Acunas, Gulden [Istanbul Faculty of Medicine, Department of Radiology, Istanbul (Turkey); Ozmen, Meral [Istanbul Faculty of Medicine, Department of Paediatric Neurology, Istanbul (Turkey)

    2004-11-01

    Congenital bilateral perisylvian syndrome (CBPS) is a congenital neurological syndrome characterized by pseudobulbar palsy, cognitive deficits and bilateral perisylvian abnormalities observed on imaging. The described abnormality in CBPS is polymicrogyria located in the frontal, parietal, and/or occipital lobes. A few syndromes or abnormalities associated with this syndrome have been documented. Pituitary abnormalities are rare disorders. Association of CBPS with pituitary abnormalities has not been reported previously. In this case, a combination of bilateral perisylvian polymicrogyria with pituitary hypoplasia and ectopic neurohypophysis, caused by a possible single common insult, is presented. (orig.)

  16. Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis

    International Nuclear Information System (INIS)

    Yekeler, Ensar; Genchellac, Hakan; Dursun, Memduh; Acunas, Gulden; Ozmen, Meral

    2004-01-01

    Congenital bilateral perisylvian syndrome (CBPS) is a congenital neurological syndrome characterized by pseudobulbar palsy, cognitive deficits and bilateral perisylvian abnormalities observed on imaging. The described abnormality in CBPS is polymicrogyria located in the frontal, parietal, and/or occipital lobes. A few syndromes or abnormalities associated with this syndrome have been documented. Pituitary abnormalities are rare disorders. Association of CBPS with pituitary abnormalities has not been reported previously. In this case, a combination of bilateral perisylvian polymicrogyria with pituitary hypoplasia and ectopic neurohypophysis, caused by a possible single common insult, is presented. (orig.)

  17. Spontaneous endocrine cure of gigantism due to pituitary apoplexy.

    Science.gov (United States)

    Arisaka, O; Hall, R; Hughes, I A

    1983-01-01

    An 11 year old, tall boy presented with symptoms typical of pituitary apoplexy. A large necrotic and haemorrhagic tumour was removed, which was shown to be an adenoma secreting growth hormone and prolactin. Subsequent treatment comprised cranial irradiation and hormone replacement. Eighteen months after operation growth was static and plasma growth hormone and prolactin concentrations were undetectable. Treatment of pituitary apoplexy should comprise excision of the tumour and postoperative irradiation; such treatment after early recognition of the condition offers the best chance of preserving normal pituitary function in children with gigantism. PMID:6311318

  18. The heterozygous disproportionate micromelia (dmm) mouse: morphological changes in fetal cartilage precede postnatal dwarfism and compared with lethal homozygotes can explain the mild phenotype.

    Science.gov (United States)

    Seegmiller, Robert E; Bomsta, Brandon D; Bridgewater, Laura C; Niederhauser, Cindy M; Montaño, Carolina; Sudweeks, Sterling; Eyre, David R; Fernandes, Russell J

    2008-11-01

    The disproportionate micromelia (Dmm) mouse has a mutation in the C-propeptide coding region of the Col2a1 gene that causes lethal dwarfism when homozygous (Dmm/Dmm) but causes only mild dwarfism observable approximately 1-week postpartum when heterozygous (Dmm/+). The purpose of this study was 2-fold: first, to analyze and quantify morphological changes that precede the expression of mild dwarfism in Dmm/+ animals, and second, to compare morphological alterations between Dmm/+ and Dmm/Dmm fetal cartilage that may correlate with the marked skeletal differences between mild and lethal dwarfism. Light and electron transmission microscopy were used to visualize structure of chondrocytes and extracellular matrix (ECM) of fetal rib cartilage. Both Dmm/+ and Dmm/Dmm fetal rib cartilage had significantly larger chondrocytes, greater cell density, and less ECM per unit area than +/+ littermates. Quantitative RT-PCR showed a decrease in aggrecan mRNA in Dmm/+ vs +/+ cartilage. Furthermore, the cytoplasm of chondrocytes in Dmm/+ and Dmm/Dmm cartilage was occupied by significantly more distended rough endoplasmic reticulum (RER) compared with wild-type chondrocytes. Fibril diameters and packing densities of +/+ and Dmm/+ cartilage were similar, but Dmm/Dmm cartilage showed thinner, sparsely distributed fibrils. These findings support the prevailing hypothesis that a C-propeptide mutation could interrupt the normal assembly and secretion of Type II procollagen trimers, resulting in a buildup of proalpha1(II) chains in the RER and a reduced rate of matrix synthesis. Thus, intracellular entrapment of proalpha1(II) seems to be primarily responsible for the dominant-negative effect of the Dmm mutation in the expression of dwarfism.

  19. Persistent expression of activated notch in the developing hypothalamus affects survival of pituitary progenitors and alters pituitary structure.

    Science.gov (United States)

    Aujla, Paven K; Bogdanovic, Vedran; Naratadam, George T; Raetzman, Lori T

    2015-08-01

    As the pituitary gland develops, signals from the hypothalamus are necessary for pituitary induction and expansion. Little is known about the control of cues that regulate early signaling between the two structures. Ligands and receptors of the Notch signaling pathway are found in both the hypothalamus and Rathke's pouch. The downstream Notch effector gene Hes1 is required for proper pituitary formation; however, these effects could be due to the action of Hes1 in the hypothalamus, Rathke's pouch, or both. To determine the contribution of hypothalamic Notch signaling to pituitary organogenesis, we used mice with loss and gain of Notch function within the developing hypothalamus. We demonstrate that loss of Notch signaling by conditional deletion of Rbpj in the hypothalamus does not affect expression of Hes1 within the posterior hypothalamus or expression of Hes5. In contrast, expression of activated Notch within the hypothalamus results in ectopic Hes5 expression and increased Hes1 expression, which is sufficient to disrupt pituitary development and postnatal expansion. Taken together, our results indicate that Rbpj-dependent Notch signaling within the developing hypothalamus is not necessary for pituitary development, but persistent Notch signaling and ectopic Hes5 expression in hypothalamic progenitors affects pituitary induction and expansion. © 2015 Wiley Periodicals, Inc.

  20. Pituitary gland height evaluated by MR in patients with β-thalassemia major: a marker of pituitary gland function

    International Nuclear Information System (INIS)

    Argyropoulou, M.I.; Metafratzi, Z.; Efremidis, S.C.; Kiortsis, D.N.; Bitsis, S.; Tsatoulis, A.

    2001-01-01

    In transfusion-dependent β-thalassemia major, increased iron deposition in the pituitary gland has a cytotoxic effect leading mainly to hypogonadotropic hypogonadism. Our purpose was to assess in these patients the height of the pituitary gland and to evaluate whether it represents a marker of pituitary gland function. In 29 patients with β-thalassemia major and 35 age- and gender-matched controls the pituitary gland height was evaluated in a midline sagittal scan using a spin echo T1-weighted (500/20 TR/TE) sequence. In all patients, an extensive endocrine evaluation was performed, including measurements of spontaneous and stimulated levels of gonadotropins, thyroid hormones, growth hormone, insulin-like growth factor, and adrenal hormones. The pituitary gland height was lower in thalassemic patients with hypogonadotropic hypogonadism (n=15) (mean 3.48; SD 0.46) than in the age- and gender-matched controls (mean 6.29; SD 0.77), (P<0.001). No statistically significant difference was found between thalassemic patients without hormone dysfunction (n=14) (mean 5.34; SD 1.52) and age- and gender-matched controls (mean 5.91; SD 1.06). We conclude that in thalassemic patients the pituitary gland height is an additional marker of pituitary gland function and might be useful in clinical management. (orig.)

  1. Pituitary gland height evaluated by MR in patients with {beta}-thalassemia major: a marker of pituitary gland function

    Energy Technology Data Exchange (ETDEWEB)

    Argyropoulou, M.I.; Metafratzi, Z.; Efremidis, S.C. [Dept. of Radiology, Univ. of Ioannina (Greece); Kiortsis, D.N. [Dept. of Physiology, Univ. of Ioannina (Greece); Bitsis, S.; Tsatoulis, A. [Dept. of Internal Medicine, Univ. of Ioannina (Greece)

    2001-12-01

    In transfusion-dependent {beta}-thalassemia major, increased iron deposition in the pituitary gland has a cytotoxic effect leading mainly to hypogonadotropic hypogonadism. Our purpose was to assess in these patients the height of the pituitary gland and to evaluate whether it represents a marker of pituitary gland function. In 29 patients with {beta}-thalassemia major and 35 age- and gender-matched controls the pituitary gland height was evaluated in a midline sagittal scan using a spin echo T1-weighted (500/20 TR/TE) sequence. In all patients, an extensive endocrine evaluation was performed, including measurements of spontaneous and stimulated levels of gonadotropins, thyroid hormones, growth hormone, insulin-like growth factor, and adrenal hormones. The pituitary gland height was lower in thalassemic patients with hypogonadotropic hypogonadism (n=15) (mean 3.48; SD 0.46) than in the age- and gender-matched controls (mean 6.29; SD 0.77), (P<0.001). No statistically significant difference was found between thalassemic patients without hormone dysfunction (n=14) (mean 5.34; SD 1.52) and age- and gender-matched controls (mean 5.91; SD 1.06). We conclude that in thalassemic patients the pituitary gland height is an additional marker of pituitary gland function and might be useful in clinical management. (orig.)

  2. Reversible pituitary hyperplasia at birth in a macrosomic full-term baby boy

    Energy Technology Data Exchange (ETDEWEB)

    Osipoff, Jennifer; Wilson, Thomas A. [State University of New York, Division of Pediatric Endocrinology, Department of Pediatrics, Stony Brook, NY (United States); Peyster, Robert [Stony Brook University Medical Center, Department of Radiology, Stony Brook, NY (United States)

    2010-12-15

    Pituitary hyperplasia is generally associated with end-organ failure such as primary hypothyroidism, physiological changes such as puberty and pregnancy, or neoplasms secreting releasing factors. We present a full-term infant with an enlarged pituitary height of 8 mm at age 3 days despite a normal endocrinological evaluation. Repeat imaging at 5 months of age revealed a normal-size pituitary gland. To our knowledge, pituitary hyperplasia has not been described in a neonate with normal pituitary function. (orig.)

  3. MRI features of growth hormone deficiency in children with short stature caused by pituitary lesions

    OpenAIRE

    Xu, Chao; Zhang, Xinxian; Dong, Lina; Zhu, Bin; Xin, Tao

    2017-01-01

    We verified the advantages of using magnetic resonance imaging (MRI) for improving the diagnostic quality of growth hormone deficiency (GHD) in children with short stature caused by pituitary lesions. Clinical data obtained from 577 GHD patients with short stature caused by pituitary lesions were retrospectively analyzed. There were 354 cases (61.3%) with anterior pituitary dysplasia; 45 cases (7.8%) of pituitary stalk interruption syndrome (PSIS); 15 cases (2.6%) of pituitary hyperplasia due...

  4. Pituitary Tumors in Childhood: an update in their diagnosis, treatment and molecular genetics

    OpenAIRE

    Keil, Margaret F.; Stratakis, Constantine A.

    2008-01-01

    Pituitary tumors are rare in childhood and adolescence, with a reported prevalence of up to 1 per million children. Only 2 - 6% of surgically treated pituitary tumors occur in children. Although pituitary tumors in children are almost never malignant and hormonal secretion is rare, these tumors may result in significant morbidity. Tumors within the pituitary fossa are of two types mainly, craniopharyngiomas and adenomas; craniopharyngiomas cause symptoms by compressing normal pituitary, causi...

  5. Pituitary-hormone secretion by thyrotropinomas.

    Science.gov (United States)

    Roelfsema, Ferdinand; Kok, Simon; Kok, Petra; Pereira, Alberto M; Biermasz, Nienke R; Smit, Jan W; Frolich, Marijke; Keenan, Daniel M; Veldhuis, Johannes D; Romijn, Johannes A

    2009-01-01

    Hormone secretion by somatotropinomas, corticotropinomas and prolactinomas exhibits increased pulse frequency, basal and pulsatile secretion, accompanied by greater disorderliness. Increased concentrations of growth hormone (GH) or prolactin (PRL) are observed in about 30% of thyrotropinomas leading to acromegaly or disturbed sexual functions beyond thyrotropin (TSH)-induced hyperthyroidism. Regulation of non-TSH pituitary hormones in this context is not well understood. We there therefore evaluated TSH, GH and PRL secretion in 6 patients with up-to-date analytical and mathematical tools by 24-h blood sampling at 10-min intervals in a clinical research laboratory. The profiles were analyzed with a new deconvolution method, approximate entropy, cross-approximate entropy, cross-correlation and cosinor regression. TSH burst frequency and basal and pulsatile secretion were increased in patients compared with controls. TSH secretion patterns in patients were more irregular, but the diurnal rhythm was preserved at a higher mean with a 2.5 h phase delay. Although only one patient had clinical acromegaly, GH secretion and IGF-I levels were increased in two other patients and all three had a significant cross-correlation between the GH and TSH. PRL secretion was increased in one patient, but all patients had a significant cross-correlation with TSH and showed decreased PRL regularity. Cross-ApEn synchrony between TSH and GH did not differ between patients and controls, but TSH and PRL synchrony was reduced in patients. We conclude that TSH secretion by thyrotropinomas shares many characteristics of other pituitary hormone-secreting adenomas. In addition, abnormalities in GH and PRL secretion exist ranging from decreased (joint) regularity to overt hypersecretion, although not always clinically obvious, suggesting tumoral transformation of thyrotrope lineage cells.

  6. Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies.

    Science.gov (United States)

    Teo, Mario; Johnson, Jeremiah N; Bell-Stephens, Teresa E; Marks, Michael P; Do, Huy M; Dodd, Robert L; Bober, Michael B; Steinberg, Gary K

    2016-12-01

    OBJECTIVE Majewski osteodysplastic primordial dwarfism Type II (MOPD II) is a rare genetic disorder. Features of it include extremely small stature, severe microcephaly, and normal or near-normal intelligence. Previous studies have found that more than 50% of patients with MOPD II have intracranial vascular anomalies, but few successful surgical revascularization or aneurysm-clipping cases have been reported because of the diminutive arteries and narrow surgical corridors in these patients. Here, the authors report on a large series of patients with MOPD II who underwent surgery for an intracranial vascular anomaly. METHODS In conjunction with an approved prospective registry of patients with MOPD II, a prospectively collected institutional surgical database of children with MOPD II and intracranial vascular anomalies who underwent surgery was analyzed retrospectively to establish long-term outcomes. RESULTS Ten patients with MOPD II underwent surgery between 2005 and 2012; 5 patients had moyamoya disease (MMD), 2 had intracranial aneurysms, and 3 had both MMD and aneurysms. Patients presented with transient ischemic attack (TIA) (n = 2), ischemic stroke (n = 2), intraparenchymal hemorrhage from MMD (n = 1), and aneurysmal subarachnoid hemorrhage (n = 1), and 4 were diagnosed on screening. The mean age of the 8 patients with MMD, all of whom underwent extracranial-intracranial revascularization (14 indirect, 1 direct) was 9 years (range 1-17 years). The mean age of the 5 patients with aneurysms was 15.5 years (range 9-18 years). Two patients experienced postoperative complications (1 transient weakness after clipping, 1 femoral thrombosis that required surgical repair). During a mean follow-up of 5.9 years (range 3-10 years), 3 patients died (1 of subarachnoid hemorrhage, 1 of myocardial infarct, and 1 of respiratory failure), and 1 patient had continued TIAs. All of the surviving patients recovered to their neurological baseline. CONCLUSIONS Patients with MMD

  7. MRI diagnosis of pituitary abscess and its clinical significance

    International Nuclear Information System (INIS)

    Chen Shuang; Qian Ruiling; Tang Zhiwei; Liu Ke; Huang Yong; Li Xi

    2007-01-01

    Objective: To investigate the MR features of pituitary abscess. Methods: The MR features of 14 eases of pituitary abscess proved by surgical pathology and clinical treatments were analyzed retrospectively. Results: Pre-contrast MR showed hypointense heterogeneous intensity on T 1 WI in 12 cases and iso-hyperintense on T 1 WI in 2 cases, hyperintense on T 2 WI in all cases. Post-gadolinium MR showed the ring-like enhancement around the uneven edge of abscess and the surrounding enhanced meninges connecting to the focus. The normal pituitary could not be identified in all 14 cases. The MR specific findings include the fluid-fluid level, nodule on the edge and the enhanced patchy shadow. Conclusions: The pituitary abscess has specific findings on MR examination, which can be used to combine with clinical symptoms to achieve the diagnosis before operation, so that the cases could be treated with antibiotic without operation. (authors)

  8. Ectopic pituitary adenoma presenting as midline nasopharyngeal mass.

    LENUS (Irish Health Repository)

    Ali, R

    2012-02-01

    INTRODUCTION: Ectopic pituitary adenomas are extremely rare. We report a case of ectopic pituitary adenoma in the midline of the nasopharynx. This adenoma probably arose from the pharyngeal remnant of Rathke\\'s pouch. METHODS: We discuss a case of a lady who presented to our unit with 2 months history of dryness and sensation of lump in her throat and a long standing history of hypothyroidism. Examination of nasopharynx revealed a smooth and fluctuant midline mass. CT scan of nose and paranasal sinuses confirmed the midline mass with small defect communicating with the sphenoid sinus. An initial diagnosis of Thornwaldt\\'s cyst was made and she underwent upper aerodigestive tract endoscopy and marsupialization of the mass. Histopathological examination revealed ectopic pituitary adenoma. CONCLUSION: Ectopic pituitary adenoma is an important differential diagnosis for a midline nasopharyngeal mass. It is recommended that prior to surgical resection of midline nasopharyngeal mass biopsy is taken and MRI is performed.

  9. Recurrent Hyponatremia as Presenting Manifestation of Pituitary Macroadenoma

    Directory of Open Access Journals (Sweden)

    Rajput R.

    2017-05-01

    Full Text Available Hyponatremia is commonly seen electrolyte disturbance clinically. It is potentially life-threatening and requires prompt diagnosis and treatment. Non-functioning pituitary macroadenoma generally presents with a headache, visual disturbances, and the diagnosis is often delayed because of nonspecific nature of symptoms. Hyponatremia being initial manifestation before other common symptoms of pituitary macroadenoma is rare. We present a case of 55-year-old male with recurrent episodes of hyponatremia who was found to non-functioning pituitary macroadenoma along with panhypopituitarism. He was managed with hormone replacements. Our case highlights the importance of correct diagnosis of hyponatremia, measurement of the thyroid, adrenal and pituitary function in cases of hyponatremia.

  10. Pareidolia in Neuroendocrinology: A Pituitary Macroadenoma Resembling "Big Bird".

    Science.gov (United States)

    de Herder, Wouter W

    2016-04-01

    The MRI picture of a pituitary macroadenoma with supra- and perisellar expansion resembled a famous character from a children's television series demonstrating that pareidolia is also observed in neuro-endocrinology and -radiology.

  11. Serotonin, ATRX, and DAXX Expression in Pituitary Adenomas

    DEFF Research Database (Denmark)

    Casar-Borota, Olivera; Botling, Johan; Granberg, Dan

    2017-01-01

    that remain localized to the sellar and perisellar region. A lack of ATRX or DAXX in a sellar NET suggests a nonpituitary NET, probably of pancreatic origin. One of the 2 examined corticotroph carcinomas, however, demonstrated negative ATRX immunolabeling due to an ATRX gene mutation. Further studies......Differential diagnosis based on morphology and immunohistochemistry between a clinically nonfunctioning pituitary neuroendocrine tumor (NET)/pituitary adenoma and a primary or secondary NET of nonpituitary origin in the sellar region may be difficult. Serotonin, a frequently expressed marker...... in the NETs, has not been systematically evaluated in pituitary NETs. Although mutations in ATRX or DAXX have been reported in a significant proportion of pancreatic NETs, the mutational status of ATRX and DAXX and their possible pathogenetic role in pituitary NETs are unknown. Facing a difficult diagnostic...

  12. [Pituitary function of dysgenesic femal rats. Studies with grafting method].

    Science.gov (United States)

    Vanhems, E; Busquet, J

    1975-01-01

    Misulban administered to pregnant rats on the 15th day of gestation provoked gonadal dysgenesia in the offspring. Study of the pituitary function of dysgenesic female rats, realized by grafting method, showed gonadotrophic hypersecretion.

  13. Pregnancy and pituitary disorders: Challenges in diagnosis and management

    Directory of Open Access Journals (Sweden)

    Bashir A Laway

    2013-01-01

    Full Text Available Pregnancy is associated with normal physiological changes in endocrine system that assists fetal survival as well as preparation of labor. The pituitary gland is one of the most affected organs in which major changes in anatomy and physiology take place. Due to overlapping clinical and biochemical features of pregnancy, sometimes the diagnosis of pituitary disorders may be challenging. It is important to know what normal parameters of changes occur in endocrine system in order to diagnose and manage complex endocrine problems in pregnancy. In our present review, we will focus on pituitary disorders that occur exclusively during pregnancy like Sheehan′s syndrome and lymphocytic hypophysitis and pre-existing pituitary disorders (like prolactinoma, Cushing′s disease and acromegaly, which poses significant challenge to endocrinologists.

  14. Immediate postoperative complications in transsphenoidal pituitary surgery: A prospective study

    Directory of Open Access Journals (Sweden)

    Tumul Chowdhury

    2014-01-01

    Full Text Available Background: Considering the important role of pituitary gland in regulating various endocrine axes and its unique anatomical location, various postoperative complications can be anticipated resulting from surgery on pituitary tumors. We examined and categorized the immediate postoperative complications according to various tumor pathologies. Materials and Methods: We carried out a prospective study in 152 consecutive patients and noted various postoperative complications during neurosurgical intensive care unit stay (within 48 hrs of hospital stay in patients undergoing transsphenoidal removal of pituitary tumors. Results: In our series, various groups showed different postoperative complications out of which, cerebrospinal fluid leak was the commonest followed by diabetes insipidus, postoperative nausea and vomiting, and hematoma at operation site. Conclusion: Various immediate postoperative complications can be anticipated in transsphenoidal pituitary surgery even though, it is considered to be relatively safe.

  15. Plasma ACTH concentration and pituitary gland histo-pathology in ...

    African Journals Online (AJOL)

    and histology of the pituitary gland and paraventricular nucleus in rats. Methods: Rats were randomly ... symptoms and signs including motor, psychiatric and sensory disorders and .... tuitary and cortisol from the adrenal cortex. Circulating.

  16. Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.

    Science.gov (United States)

    Leegwater, Peter A; Vos-Loohuis, Manon; Ducro, Bart J; Boegheim, Iris J; van Steenbeek, Frank G; Nijman, Isaac J; Monroe, Glen R; Bastiaansen, John W M; Dibbits, Bert W; van de Goor, Leanne H; Hellinga, Ids; Back, Willem; Schurink, Anouk

    2016-10-28

    Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back appear normal. A striking feature of the condition is the flexor tendon laxity that leads to hyperextension of the fetlock joints. The growth plates of dwarfs display disorganized and thickened chondrocyte columns. The aim of this study was to identify the gene defect that causes the recessively inherited trait in Friesian horses to understand the disease process at the molecular level. We have localized the genetic cause of the dwarfism phenotype by a genome wide approach to a 3 Mb region on the p-arm of equine chromosome 14. The DNA of two dwarfs and one control Friesian horse was sequenced completely and we identified the missense mutation ECA14:g.4535550C > T that cosegregated with the phenotype in all Friesians analyzed. The mutation leads to the amino acid substitution p.(Arg17Lys) of xylosylprotein beta 1,4-galactosyltransferase 7 encoded by B4GALT7. The protein is one of the enzymes that synthesize the tetrasaccharide linker between protein and glycosaminoglycan moieties of proteoglycans of the extracellular matrix. The mutation not only affects a conserved arginine codon but also the last nucleotide of the first exon of the gene and we show that it impedes splicing of the primary transcript in cultured fibroblasts from a heterozygous horse. As a result, the level of B4GALT7 mRNA in fibroblasts from a dwarf is only 2 % compared to normal levels. Mutations in B4GALT7 in humans are associated with Ehlers-Danlos syndrome progeroid type 1 and Larsen of Reunion Island syndrome. Growth retardation and ligamentous laxity are common manifestations of these syndromes. We suggest that the identified mutation of equine B4GALT7 leads to the typical dwarfism phenotype in Friesian horses due to deficient splicing of transcripts of

  17. Headache in Patients With Pituitary Lesions: A Longitudinal Cohort Study.

    Science.gov (United States)

    Rizzoli, Paul; Iuliano, Sherry; Weizenbaum, Emma; Laws, Edward

    2016-03-01

    Headache is a presenting feature in 37% to 70% of patients with pituitary tumor. Other pituitary lesions may also present with headache, and together these lesions account for about 20% of all primary brain lesions. Although pituitary lesions have been associated with headache, the exact nature of the relationship remains undefined. It is not always clear whether the presenting headache is an unrelated primary headache, a lesion-induced aggravation of a preexisting primary headache, or a separate secondary headache related to the lesion. To characterize headache in patients referred to a multidisciplinary neuroendocrine clinic with suspected pituitary lesions and to assess changes in headache in those who underwent surgery. We used a self-administered survey of headache characteristics completed by patients upon presentation and after any pituitary surgical procedure. One hundred thirty-three participants completed the preoperative questionnaire (response rate of 99%). The overall prevalence of headache was 63%. Compared to patients without headache, the group with headache was more likely to be female (P = .001), younger (P = .001), and to have had a prior headache diagnosis (P headache localized to the anterior region of the head. Fifty-one patients with headache underwent transsphenoidal pituitary surgery. Headache was not associated with increased odds of having surgery (odds ratio, 0.90). At 3 months, 81% of surgically treated patients with headache who completed the postoperative questionnaire (21/26) reported improvement or resolution of headaches. No patient who completed the postoperative questionnaire (44/84) reported new or worsened headache. Frequent, disabling headaches are common in patients with pituitary lesions referred for neuroendocrine consultation, especially in younger females with a preexisting headache disorder. Surgery in this group was associated with headache improvement or resolution in the majority and was not found to cause or worsen

  18. ACTH radioimmunocytochemistry (RICH) on rat anterior pituitary cells

    International Nuclear Information System (INIS)

    Rappay, G.; Karteszi, M.; Makara, G.B.

    1979-01-01

    Radioimmunocytochemistry (RICH) was applied to detect corticotrophs in adult rat pituitaries and 8-day-old anterior pituitary monolayers by incubating sections and cultures with 125 I-ACTH-anti ACTH immune complexes. After incubations autoradiography was made. In comparison, 'conventional' immunostaining was carried out on adjacent sections and parallel cultures. It has been established that RICH is suitable for detection of corticotrophs. (orig.) [de

  19. Acromegaly with sleep disturbances relieved by yttrium-90 pituitary implantation

    International Nuclear Information System (INIS)

    Rosenstock, J.; Doyle, F.H.; Joplin, G.F.; Jung, R.T.; Mashiter, K.

    1982-01-01

    A brief case history is presented of a patient, who, after yttrium-90 implantation, showed a complete clinical and hormonal remission of her acromegaly, maintaining normal pituitary function. The remarkable feature was the rapid disappearance of her attacks of somnolence within 96 hours of pituitary implantation, despite persistence of nocturnal snoring and well before any remodelling of soft tissues could have occurred. This response suggests that her daytime somnolence had a narcoleptic component. (author)

  20. Pregnancy and pituitary disorders: Challenges in diagnosis and management

    OpenAIRE

    Bashir A Laway; Shahnaz A Mir

    2013-01-01

    Pregnancy is associated with normal physiological changes in endocrine system that assists fetal survival as well as preparation of labor. The pituitary gland is one of the most affected organs in which major changes in anatomy and physiology take place. Due to overlapping clinical and biochemical features of pregnancy, sometimes the diagnosis of pituitary disorders may be challenging. It is important to know what normal parameters of changes occur in endocrine system in order to diagnose and...

  1. Gigantism caused by growth hormone secreting pituitary adenoma.

    Science.gov (United States)

    Rhee, Noorisaem; Jeong, Kumi; Yang, Eun Mi; Kim, Chan Jong

    2014-06-01

    Gigantism indicates excessive secretion of growth hormones (GH) during childhood when open epiphyseal growth plates allow for excessive linear growth. Case one involved a 14.7-year-old boy presented with extreme tall stature. His random serum GH level was 38.4 ng/mL, and failure of GH suppression was noted during an oral glucose tolerance test (OGTT; nadir serum GH, 22.7 ng/mL). Magnetic resonance imaging (MRI) of the brain revealed a 12-mm-sized pituitary adenoma. Transsphenoidal surgery was performed and a pituitary adenoma displaying positive immunohistochemical staining for GH was reported. Pituitary MRI scan was performed 4 months after surgery and showed recurrence/residual tumor. Medical treatment with a long-acting somatostatin analogue for six months was unsuccessful. As a result, secondary surgery was performed. Three months after reoperation, the GH level was 0.2 ng/mL and insulin-like growth factor 1 was 205 ng/mL. Case two involved a 14.9-year-old boy, who was referred to our department for his tall stature. His basal GH level was 9.3 ng/mL, and failure of GH suppression was reported during OGTT (nadir GH, 9.0 ng/mL). Pituitary MRI showed a 6-mm-sized pituitary adenoma. Surgery was done and histopathological examination demonstrated a pituitary adenoma with positive staining for GH. Three months after surgery, the GH level was 0.2 ng/mL and nadir GH during OGTT was less than 0.1 ng/mL. Pituitary MRI scans showed no residual tumor. We present two cases of gigantism caused by a GH-secreting pituitary adenoma with clinical and microscopic findings.

  2. Gigantism caused by growth hormone secreting pituitary adenoma

    Directory of Open Access Journals (Sweden)

    Noorisaem Rhee

    2014-06-01

    Full Text Available Gigantism indicates excessive secretion of growth hormones (GH during childhood when open epiphyseal growth plates allow for excessive linear growth. Case one involved a 14.7-year-old boy presented with extreme tall stature. His random serum GH level was 38.4 ng/mL, and failure of GH suppression was noted during an oral glucose tolerance test (OGTT; nadir serum GH, 22.7 ng/mL. Magnetic resonance imaging (MRI of the brain revealed a 12-mm-sized pituitary adenoma. Transsphenoidal surgery was performed and a pituitary adenoma displaying positive immunohistochemical staining for GH was reported. Pituitary MRI scan was performed 4 months after surgery and showed recurrence/residual tumor. Medical treatment with a long-acting somatostatin analogue for six months was unsuccessful. As a result, secondary surgery was performed. Three months after reoperation, the GH level was 0.2 ng/mL and insulin-like growth factor 1 was 205 ng/mL. Case two involved a 14.9-year-old boy, who was referred to our department for his tall stature. His basal GH level was 9.3 ng/mL, and failure of GH suppression was reported during OGTT (nadir GH, 9.0 ng/mL. Pituitary MRI showed a 6-mm-sized pituitary adenoma. Surgery was done and histopathological examination demonstrated a pituitary adenoma with positive staining for GH. Three months after surgery, the GH level was 0.2 ng/mL and nadir GH during OGTT was less than 0.1 ng/mL. Pituitary MRI scans showed no residual tumor. We present two cases of gigantism caused by a GH-secreting pituitary adenoma with clinical and microscopic findings.

  3. Acromegaly with sleep disturbances relieved by yttrium-90 pituitary implantation

    Energy Technology Data Exchange (ETDEWEB)

    Rosenstock, J.; Doyle, F.H.; Joplin, G.F.; Jung, R.T.; Mashiter, K. (Hammersmith Hospital, London (UK). Postgraduate Medical School)

    1982-03-01

    A brief case history is presented of a patient, who, after yttrium-90 implantation, showed a complete clinical and hormonal remission of her acromegaly, maintaining normal pituitary function. The remarkable feature was the rapid disappearance of her attacks of somnolence within 96 hours of pituitary implantation, despite persistence of nocturnal snoring and well before any remodelling of soft tissues could have occurred. This response suggests that her daytime somnolence had a narcoleptic component.

  4. Gigantism caused by growth hormone secreting pituitary adenoma

    Science.gov (United States)

    Rhee, Noorisaem; Jeong, Kumi; Yang, Eun Mi

    2014-01-01

    Gigantism indicates excessive secretion of growth hormones (GH) during childhood when open epiphyseal growth plates allow for excessive linear growth. Case one involved a 14.7-year-old boy presented with extreme tall stature. His random serum GH level was 38.4 ng/mL, and failure of GH suppression was noted during an oral glucose tolerance test (OGTT; nadir serum GH, 22.7 ng/mL). Magnetic resonance imaging (MRI) of the brain revealed a 12-mm-sized pituitary adenoma. Transsphenoidal surgery was performed and a pituitary adenoma displaying positive immunohistochemical staining for GH was reported. Pituitary MRI scan was performed 4 months after surgery and showed recurrence/residual tumor. Medical treatment with a long-acting somatostatin analogue for six months was unsuccessful. As a result, secondary surgery was performed. Three months after reoperation, the GH level was 0.2 ng/mL and insulin-like growth factor 1 was 205 ng/mL. Case two involved a 14.9-year-old boy, who was referred to our department for his tall stature. His basal GH level was 9.3 ng/mL, and failure of GH suppression was reported during OGTT (nadir GH, 9.0 ng/mL). Pituitary MRI showed a 6-mm-sized pituitary adenoma. Surgery was done and histopathological examination demonstrated a pituitary adenoma with positive staining for GH. Three months after surgery, the GH level was 0.2 ng/mL and nadir GH during OGTT was less than 0.1 ng/mL. Pituitary MRI scans showed no residual tumor. We present two cases of gigantism caused by a GH-secreting pituitary adenoma with clinical and microscopic findings. PMID:25077093

  5. Spontaneous endocrine cure of gigantism due to pituitary apoplexy.

    OpenAIRE

    Arisaka, O; Hall, R; Hughes, I A

    1983-01-01

    An 11 year old, tall boy presented with symptoms typical of pituitary apoplexy. A large necrotic and haemorrhagic tumour was removed, which was shown to be an adenoma secreting growth hormone and prolactin. Subsequent treatment comprised cranial irradiation and hormone replacement. Eighteen months after operation growth was static and plasma growth hormone and prolactin concentrations were undetectable. Treatment of pituitary apoplexy should comprise excision of the tumour and postoperative i...

  6. The Influence of Pituitary Size on Outcome After Transsphenoidal Hypophysectomy in a Large Cohort of Dogs with Pituitary-Dependent Hypercortisolism

    NARCIS (Netherlands)

    van Rijn, Sarah; Galac, S.; Tryfonidou, M. A.; Hesselink, J. W.; Penning, L. C.; Kooistra, H. S.; Meij, B. P.

    2016-01-01

    BACKGROUND Transsphenoidal hypophysectomy is one of the treatment strategies in the comprehensive management of dogs with pituitary-dependent hypercortisolism (PDH). OBJECTIVES To describe the influence of pituitary size at time of pituitary gland surgery on long-term outcome. ANIMALS

  7. Valuation of dynamic MR imaging for diagnosis of pituitary microadenomas

    International Nuclear Information System (INIS)

    Lu Wu; Zhou Shengli; Liu Yusheng

    2003-01-01

    Objective: To evaluate the use of keyhole dynamic magnetic resonance (MR) imaging in evaluation of pituitary microadenomas. Methods: Fifty-three patients with pituitary microadenomas proved by operation or clinical findings such as headache, amenorrhea, lactating, fat or acromegaly were retrospectively studied on dynamic MR, conventional contrast enhanced MR, and unenhanced MR. Then the image data were analyzed by two experienced doctors who didn't know the details and three degrees were made as follows: grade 0, no evidence of the tumor; grade I, asymmetry signals in the pituitary; and grade II, nodulated or sheets signals in the pituitary. The grading data were compared with statistical methods. Results: In dynamic MR grading system: grade 0 was revealed in 1 patient, grade I in 29 patients and grade II in 23 patients. In conventional enhanced MR: grade 0 in 26 patients, grade I in 17 patients and grade II in 10 patients. In conventional unenhanced MR: grade 0 in 39 patients, grade I in 10 patients and grade II in 4 patients. The diagnostic rate of dynamic MR, conventional enhanced MR, and unenhanced MR was 98.1%, 51.9%, and 26.4%, respectively. (P < 0.005). Dynamic MR can increase the grade of tumor compared to the other two, which is significant statistically. Conclusion: Keyhole dynamic MR can increase the diagnostic accuracy of pituitary microadenomas while decreasing the uncertainty. So dynamic MR should become a routine examination for pituitary microadenoma when suspected by clinical findings but negative in conventional MR

  8. MRI of the TSH (thyroid stimulating hormone) -secreting pituitary adenoma

    International Nuclear Information System (INIS)

    Kang, Byung Chul; Kim, Dong Ik; Chung, Tae Sup; Cho, Yong Kook; Lee, Eun Gig; Jung, Joon Keun

    1995-01-01

    To demonstrate and evaluate the value of MRI findings of the TSH(Thyroid-Stimulating Hormone, TSH, Thyrotropin)-secreting pituitary adenoma. The authors reviewed retrospectively the MR images of 4 patients with TSH-secreting pituitary adenoma. Evaluation of the anatomical location, signal characteristics, enhancement patterns, size, shape and circunferential changes were made. No characteristic common MR findings in size, shape, signal intensity, and circumferential changes of TSH-secreting pituitary adenoma waere observed among 4 cases (size; 5 x 7 mm to 10 x 11 mm, shape; ovoid to round signal intensity; high in 1 case on T1 and T2WI, isosignal intensity in the other 3 cases, circumferential change; stalk deviation in 1 case, no stalk deviation in 3 cases). But, the tumors were centrally located at the anterior pituitary gland and showed relatively homogeneous signal intensity on MR images of all 4 patients. We conclude that centrally-located mass at the anterior pituitary gland with homogeneous signal intensity on MR image may be suggestive of the TSH-secreting pituitary adenoma, although the MR findings are not specific for the disease

  9. Pituitary disease in childhood: utility of magnetic resonance

    International Nuclear Information System (INIS)

    Vela, A. C.; Oleaga, L.; Ibanez, A. M.; Campo, M.; Grande, D.

    2000-01-01

    To assess the utility of magnetic resonance (MR) imaging in the study of pediatric patients with clinical suspicion of pituitary disease. We studied 18 patients aged 7 to 18 years.Fifteen had hormonal disturbances, two presented amenorrhea and 1 complained of headache, fever and symptoms of polyuria and polydipsia. All the patients were examined using a Siemens SP 42 1-Tesla MRI scanner. Sagittal and coronal T1-weighted spin-echo images were obtained; in addition T2-weighted spin-echo or fast spin-echo imaging was performed in ten cases and intravenous gadolinium was administered in nine. We found 9 patients with hypothalamic-pituitary dysgenesis, 2 with germinoma, 2 cases of pituitary hemosiderosis in patients with thalassemia, 2 cases of microadenoma, one abscess, one case of idiopathic central diabetes insipidus and one of Langerhans cell histiocytosis. MR enabled us to assess pituitary structural alterations in children with hypothalamic-pituitary hormone deficiencies. In our series of patients, hypothalamic-pituitary dysgenesiss was the most frequent cause of adenohypophyseal deficiencies, and most cases of central diabetes insipidus were secondary to masses in the sellar and suprasellar region. In patients with thalassemia, T2-weighted MR images showed the amount of iron deposited in adenophypophysis. Gadolinium-enhanced studies were useful in the study of masses and when the presence of microadenoma was suspected. (Author) 26 refs

  10. Hypothalamic–Pituitary Alterations in Patients With Neurosarcoidosis

    Directory of Open Access Journals (Sweden)

    ulie Martin-Grace

    2015-08-01

    Full Text Available Sarcoidosis is a non-caseating, granulomatous inflammatory disorder that can affect the central nervous system (CNS, including the hypothalamic–pituitary region, although rarely. The clinical manifestations of hypothalamic–pituitary neurosarcoidosis are heterogeneous and require a prompt diagnosis to ensure the most appropriate treatment. We have reviewed the cases of neurosarcoidosis affecting the hypothalamic–pituitary axis published since 2002 and compared them with the cases reported in the literature up to 2002, which were previously meta-analysed by our research group. Since 2002, 64 cases were identified in the literature: 37 cases presented with diabetes insipidus, 36 were found to have secondary amenorrhoea, 30 with hypogonadotropic hypogonadism, 17 with hyperprolactinaemia, 15 with thyroid-stimulating hormone deficiency, and 8 cases of panhypopituitarism. Uncommon manifestations included hyperphagia, sudden death, and thermodysregulation. We confirm that neurosarcoidosis affecting the hypothalamic–pituitary axis is an uncommon manifestation of sarcoidosis. Neither changes in the clinical manifestations and diagnosis nor significantly novel management options have appeared in the last decade. While it is a rare disorder, the involvement of the CNS is an indication to treat sarcoidosis and as the symptoms of CNS involvement, including hypothalamic–pituitary alterations, may precede the diagnosis of sarcoidosis, it is important to include neurosarcoidosis in the differential diagnosis of hypothalamic–pituitary axis dysfunction in order to facilitate prompt and appropriate treatment.

  11. Outcome After Pituitary Radiosurgery for Thalamic Pain Syndrome

    International Nuclear Information System (INIS)

    Hayashi, Motohiro; Chernov, Mikhail F.; Taira, Takaomi; Ochiai, Taku; Nakaya, Kotaro; Tamura, Noriko; Goto, Shinichi; Yomo, Shoji; Kouyama, Nobuo; Katayama, Yoko; Kawakami, Yoriko; Izawa, Masahiro; Muragaki, Yoshihiro

    2007-01-01

    Purpose: To evaluate outcomes after pituitary radiosurgery in patients with post-stroke thalamic pain syndrome. Methods and Materials: From 2002 to 2006, 24 patients with thalamic pain syndrome underwent pituitary radiosurgery at Tokyo Women's Medical University and were followed at least 12 months thereafter. The radiosurgical target was defined as the pituitary gland and its connection with the pituitary stalk. The maximum dose varied from 140 to 180 Gy. Mean follow-up after treatment was 35 months (range, 12-48 months). Results: Initial pain reduction, usually within 48 h after radiosurgery, was marked in 17 patients (71%). However, in the majority of cases the pain recurred within 6 months after treatment, and at the time of the last follow-up examination durable pain control was marked in only 5 patients (21%). Ten patients (42%) had treatment-associated side effects. Anterior pituitary abnormalities were marked in 8 cases and required hormonal replacement therapy in 3; transient diabetes insipidus was observed in 2 cases, transient hyponatremia in 1, and clinical deterioration due to increase of the numbness severity despite significant reduction of pain was seen once. Conclusions: Pituitary radiosurgery for thalamic pain results in a high rate of initial efficacy and is accompanied by acceptable morbidity. It can be used as a primary minimally invasive management option for patients with post-stroke thalamic pain resistant to medical therapy. However, in the majority of cases pain recurrence occurs within 1 year after treatment

  12. Hypothalamic and pituitary clusterin modulates neurohormonal responses to stress.

    Science.gov (United States)

    Shin, Mi-Seon; Chang, Hyukki; Namkoong, Churl; Kang, Gil Myoung; Kim, Hyun-Kyong; Gil, So Young; Yu, Ji Hee; Park, Kyeong Han; Kim, Min-Seon

    2013-01-01

    Clusterin is a sulfated glycoprotein abundantly expressed in the pituitary gland and hypothalamus of mammals. However, its physiological role in neuroendocrine function is largely unknown. In the present study, we investigated the effects of intracerebroventricular (ICV) administration of clusterin on plasma pituitary hormone levels in normal rats. Single ICV injection of clusterin provoked neurohormonal changes seen under acute stress condition: increased plasma adrenocorticotropic hormone (ACTH), corticosterone, GH and prolactin levels and decreased LH and FSH levels. Consistently, hypothalamic and pituitary clusterin expression levels were upregulated following a restraint stress, suggesting an involvement of endogenous clusterin in stress-induced neurohormonal changes. In the pituitary intermediate lobe, clusterin was coexpressed with proopiomelanocortin (POMC), a precursor of ACTH. Treatment of clusterin in POMC expressing AtT-20 pituitary cells increased basal and corticotropin-releasing hormone (CRH)-stimulated POMC promoter activities and intracellular cAMP levels. Furthermore, clusterin treatment triggered ACTH secretion from AtT-20 cells in a CRH-dependent manner, indicating that increased clusterin under stressful conditions may augment CRH-stimulated ACTH production and release. In summary, hypothalamic and pituitary clusterin may function as a modulator of neurohormonal responses under stressful conditions. © 2013 S. Karger AG, Basel.

  13. Normal Indian pituitary gland size on MR imaging

    International Nuclear Information System (INIS)

    Gupta, A.K.; Jena, A.N.; Gulati, P.K.; Marwah, R.K.; Tripathi, R.P.; Sharma, R.K.; Khanna, C.M.

    1994-01-01

    The size of the pituitary gland was measured in 294 subjects, who had no known pituitary or hypothalamic disorders. Mid sagittal TIW images showing maximum dimensions of the pituitary gland, were used for measurement of the height in each age and sex group. The mean pituitary height of all the subjects in men was 5.3 mm (SD=0.9 mm), whereas in women, the mean height was 5.9 mm (SD = 1.2 mm). Beyond 10 years of age, the pituitary height measured was greater in women than in men. The gland height showed a gradual decrease with increasing age after the age of 30 years in both men and women except in the age group of 51-60 years, which showed paradoxical increase in size. The minimum gland height found in this study was 2.5 mm and the maximum, 8.8 mm. The study presents a demographic profile of pituitary gland size in north Indian subjects as measured on MR images. (author). 6 refs., 2 tabs., 1 fig

  14. Evaluation of pituitary adenomas by multidirectional multislice dynamic CT

    International Nuclear Information System (INIS)

    Abe, T.; Izumiyama, H.; Fujisawa, I.

    2002-01-01

    Purpose: Multidetector-row CT is a new technology with a short scanning time. Multislice dynamic CT (MSDCT) in various directions can be obtained using the multidetector-row CT with multiplanar reformatting (MPR) technique. Material and Methods: We evaluated the initial results of sagittal and coronal MSDCT images reconstructed by MPR (MSDCT-MPR) in 3 pituitary adenoma patients with a pacemaker. Results: In a patient with microadenoma, the maximum contrast between the normal anterior pituitary gland and the adenoma occurred approximately 50 s after the start of the contrast medium injection. A microadenoma was depicted as a less enhanced area relative to normal pituitary tissue. The macroadenomas were depicted as a less enhanced mass with cavernous sinus invasion in 1 patient and as a non-uniformly enhanced mass in another patient. Bone destruction and incomplete opening of the sellar floor during previous surgery were clearly detected in 2 patients with macroadenomas. These pituitary adenomas were removed via the transnasal route based on information from the MSDCT-MPR images only. The findings were verified surgically. Conclusion: The MSDCT-MPR provided the information needed for surgery with good image quality in the 3 patients with pacemakers. MSDCT-MPR appears to be a useful technique for patients with a pituitary adenoma in whom MR imaging is not available. This is the first report, to our knowledge, of the MSDCT-MPR technique being used to demonstrate pituitary disorders

  15. Evaluation of pituitary adenomas by multidirectional multislice dynamic CT

    Energy Technology Data Exchange (ETDEWEB)

    Abe, T.; Izumiyama, H. [Showa Univ. School of Medicine, Tokyo (Japan). Dept. of Neurosurgery; Fujisawa, I. [Kishiwada City Hospital, Kishiwada (Japan). Dept. of Radiology

    2002-11-01

    Purpose: Multidetector-row CT is a new technology with a short scanning time. Multislice dynamic CT (MSDCT) in various directions can be obtained using the multidetector-row CT with multiplanar reformatting (MPR) technique. Material and Methods: We evaluated the initial results of sagittal and coronal MSDCT images reconstructed by MPR (MSDCT-MPR) in 3 pituitary adenoma patients with a pacemaker. Results: In a patient with microadenoma, the maximum contrast between the normal anterior pituitary gland and the adenoma occurred approximately 50 s after the start of the contrast medium injection. A microadenoma was depicted as a less enhanced area relative to normal pituitary tissue. The macroadenomas were depicted as a less enhanced mass with cavernous sinus invasion in 1 patient and as a non-uniformly enhanced mass in another patient. Bone destruction and incomplete opening of the sellar floor during previous surgery were clearly detected in 2 patients with macroadenomas. These pituitary adenomas were removed via the transnasal route based on information from the MSDCT-MPR images only. The findings were verified surgically. Conclusion: The MSDCT-MPR provided the information needed for surgery with good image quality in the 3 patients with pacemakers. MSDCT-MPR appears to be a useful technique for patients with a pituitary adenoma in whom MR imaging is not available. This is the first report, to our knowledge, of the MSDCT-MPR technique being used to demonstrate pituitary disorders.

  16. Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies.

    Science.gov (United States)

    Brancati, Francesco; Castori, Marco; Mingarelli, Rita; Dallapiccola, Bruno

    2005-12-15

    We report on a 2 9/12-year-old boy with disproportionate short stature, microcephaly, subtle craniofacial dysmorphisms, and generalized skeletal dysplasia, who developed a left hemiparesis. Brain neuroimaging disclosed a complex cerebral vascular anomaly (CVA) with stenosis of the right anterior cerebral artery and telangiectatic collateral vessels supplying the cerebral cortex, consistent with moyamoya disease. Based on clinical and skeletal features, a diagnosis of Majewski osteodysplastic primordial dwarfism type II (MOPD II) was established. Review of 16 published patients with CVA affected by either Seckel syndrome or MOPD II suggested that CVA is preferentially associated to the latter subtype affecting about 1/4 of the patients. 2005 Wiley-Liss, Inc.

  17. Perinatal findings of Seckel syndrome: a case report of a fetus showing primordial dwarfism and severe microcephaly.

    Science.gov (United States)

    Takikawa, Keiko Miyachi; Kikuchi, Akihiko; Yokoyama, Akiko; Ono, Kyoko; Iwasawa, Yuki; Sunagawa, Sorahiro; Takagi, Kimiyo; Kawame, Hiroshi; Nakamura, Tomohiko

    2008-01-01

    Seckel syndrome is a rare form of primordial dwarfism and most of the previous reports have been limited to postnatal findings. We report on a fetus showing severe microcephaly, intrauterine growth restriction and a few gyri with shallow sulci on the fetal brain suggesting cortical dysplasia, followed by ultrasound and magnetic resonance imaging in the prenatal period. Cardiotocograph revealed a reassuring fetal status throughout the whole pregnancy period. A male infant weighing 1,556 g was delivered at 39 weeks' gestation, and a diagnosis of Seckel syndrome was made based on postnatal typical findings. Although previous reports on prenatal findings of Seckel syndrome are quite limited, we think that our case presents typical features of a fetus affected by this syndrome. When prenatal ultrasound shows severe microcephaly and intrauterine growth restriction, this rare syndrome should be included in the differential diagnosis. Moreover, magnetic resonance imaging of the affected fetal brain provides further diagnostic clues. Copyright 2008 S. Karger AG, Basel.

  18. Duck "beak atrophy and dwarfism syndrome" disease complex: Interplay of novel goose parvovirus-related virus and duck circovirus?

    Science.gov (United States)

    Li, P; Li, J; Zhang, R; Chen, J; Wang, W; Lan, J; Xie, Z; Jiang, S

    2018-04-01

    As a newly emerged infectious disease, duck "beak atrophy and dwarfism syndrome (BADS)" disease has caused huge economic losses to waterfowl industry in China since 2015. Novel goose parvovirus-related virus (NGPV) is believed the main pathogen of BADS disease; however, BADS is rarely reproduced by infecting ducks with NGPV alone. As avian circovirus infection causes clinical symptoms similar to BADS, duck circovirus (DuCV) is suspected the minor pathogen of BADS disease. In this study, an investigation was carried out to determine the coinfection of NGPV and DuCV in duck embryos and in ducks with BADS disease. According to our study, the coinfection of emerging NGPV and DuCV was prevalent in East China (Shandong, Jiangsu and Anhui province) and could be vertical transmitted, indicating their cooperative roles in duck BADS disease. © 2018 Blackwell Verlag GmbH.

  19. Temozolomide treatment of a pituitary carcinoma and two pituitary macroadenomas resistant to conventional therapy

    DEFF Research Database (Denmark)

    Hagen, C; Schroeder, H D; Hansen, S

    2009-01-01

    with TMZ. One tumour was initially a macroprolactinoma that developed into a mixed GH- and prolactin-secreting carcinoma (patient A). To our knowledge, this is the first published in English literature. Two adenomas, a macroprolactinoma (patient B) and a clinically non-functioning pituitary adenoma...... sizes were significantly reduced, hormone levels normalized and symptoms of mass effects decreased in all three cases. The carcinoma was treated from 2004 to 2006 (23 months). Three years after the terminating treatment, the tumour has not regrown and hormone levels are normalized. Immunohistochemical...

  20. MRI features of growth hormone deficiency in children with short stature caused by pituitary lesions.

    Science.gov (United States)

    Xu, Chao; Zhang, Xinxian; Dong, Lina; Zhu, Bin; Xin, Tao

    2017-06-01

    We verified the advantages of using magnetic resonance imaging (MRI) for improving the diagnostic quality of growth hormone deficiency (GHD) in children with short stature caused by pituitary lesions. Clinical data obtained from 577 GHD patients with short stature caused by pituitary lesions were retrospectively analyzed. There were 354 cases (61.3%) with anterior pituitary dysplasia; 45 cases (7.8%) of pituitary stalk interruption syndrome (PSIS); 15 cases (2.6%) of pituitary hyperplasia due to primary hypothyroidism; 38 cases (6.6%) of Rathke cleft cyst; 68 cases (11.8%) of empty sella syndrome; 16 cases (2.8%) of pituitary invasion from Langerhans cell histiocytosis; 2 cases (0.3%) of sellar regional arachnoid cyst and 39 cases (6.8%) of craniopharyngioma. MRI results showed that the height of anterior pituitary in patients was less than normal. Location, size and signals of posterior pituitary and pituitary stalk were normal in anterior pituitary dysplasia. In all cases pituitary hyperplasia was caused by hypothyroidism. MRI results showed that anterior pituitary was enlarged, and we detected upward apophysis and obvious homogeneous enhancement. There were no pituitary stalk interruption and abnormal signal. We also observed that after hormone replacement therapy the size of pituitary gland was reduced. Anterior pituitary atrophy was observed in Rathke cleft cyst, empty sella syndrome, sellar regional arachnoid cyst and craniopharyngioma. The microstructure of hypophysis and sellar region was studied with MRI. We detected pituitary lesions, and the characteristics of various pituitary diseases of GHD in children with short stature. It was concluded that in children with GHD caused by pituitary lesions, MRI was an excellent method for early diagnosis. This method offers clinical practicability and we believe it can be used for differential diagnosis and to monitor the therapeutic effects.

  1. Magnocellular Neurons and Posterior Pituitary Function.

    Science.gov (United States)

    Brown, Colin H

    2016-09-15

    The posterior pituitary gland secretes oxytocin and vasopressin (the antidiuretic hormone) into the blood system. Oxytocin is required for normal delivery of the young and for delivery of milk to the young during lactation. Vasopressin increases water reabsorption in the kidney to maintain body fluid balance and causes vasoconstriction to increase blood pressure. Oxytocin and vasopressin secretion occurs from the axon terminals of magnocellular neurons whose cell bodies are principally found in the hypothalamic supraoptic nucleus and paraventricular nucleus. The physiological functions of oxytocin and vasopressin depend on their secretion, which is principally determined by the pattern of action potentials initiated at the cell bodies. Appropriate secretion of oxytocin and vasopressin to meet the challenges of changing physiological conditions relies mainly on integration of afferent information on reproductive, osmotic, and cardiovascular status with local regulation of magnocellular neurons by glia as well as intrinsic regulation by the magnocellular neurons themselves. This review focuses on the control of magnocellular neuron activity with a particular emphasis on their regulation by reproductive function, body fluid balance, and cardiovascular status. © 2016 American Physiological Society. Compr Physiol 6:1701-1741, 2016. Copyright © 2016 John Wiley & Sons, Inc.

  2. Gamma knife radiosurgery for secreting pituitary tumors

    International Nuclear Information System (INIS)

    Noren, G.; Jackson, I.M.D.; Chougule, P.; Zheng, Z.; Epstein, M.H.

    1998-01-01

    Transsphenoidal surgery usually represents first line treatment for pituitary adenomas with the aim of removing the tumor, decompressing the optic apparatus and, in secreting tumors, eliminating the hypersecretion. Gamma Knife radiosurgery is indicated for tumor remnants or recurrences in or above the sella including those invading the cavernous sinus and also as initial treatment in patients who are unable to tolerate an open surgical procedure and where medication has failed. In this study, the target definition was retrospectively studied and when necessary corrected in 10 acromegalic patients, 8 with Cushing's disease, and 12 with prolactinomas undergoing Gamma Knife radiosurgery. The dose plan was analyzed and the volume of the target covered by a minimum of 15, 20, 25, 30 and 35 Gy was estimated. A dose/volume profile for each treatment was created and correlated to the endocrinological and clinical outcome. Cure, according to strict endocrinological criteria, was seen in 6 of the acromegalic patients, in 2 of the patients with ACTH hypersecretion, and in 2 of the patients with prolactinomas. Analysis of these profiles, also for the patients with partial effect, show that a minimum radiation dose of 20 Gy may be adequate to eliminate the hypersecretion in acromegalic patients whereas a dose of at least 25 Gy may be required in patients with Cushing's disease and prolactinoma. (author)

  3. Pituitary gigantism: a retrospective case series.

    Science.gov (United States)

    Creo, Ana L; Lteif, Aida N

    2016-05-01

    Pituitary gigantism (PG) is a rare pediatric disease with poorly defined long-term outcomes. Our aim is to describe the longitudinal clinical course in PG patients using a single-center, retrospective cohort study. Patients younger than 19 years diagnosed with PG were identified. Thirteen cases were confirmed based on histopathology of a GH secreting adenoma or hyperplasia and a height >2 SD for age and gender. Laboratory studies, initial pathology, and imaging were abstracted. Average age at diagnosis was 13 years with an average initial tumor size of 7.4×3.8 mm. Initial transsphenoidal surgery was curative in 3/12 patients. Four of the nine patients who failed the initial surgery required a repeat procedure. Octreotide successfully normalized GH levels in 1/6 patients with disease refractory to surgery (1/6). Two out of five patients received pegvisomant after failing octreotide but only one patient responded to treatment. Five patients were ultimately treated with radiosurgery or radiation patients were followed for an average of 10 years. PG is difficult to treat. In most patients, the initial transsphenoidal surgery failed to normalize GH levels. If the initial surgery was unsuccessful, repeat surgery was unlikely to control GH secretion. Treatment with octreotide or pegvisomant was successful in less than half the patients failing surgery. Radiosurgery was curative, but is not an optimal treatment for pediatric patients. Despite the small sample, our study suggests that the treatment outcome of pediatric PG may be different than adults.

  4. MR imaging of pituitary hyperplasia in a child with growth arrest and primary hypothyroidism

    International Nuclear Information System (INIS)

    Papakonstantinou, O.; Bakantaki, A.; Papadaki, E.; Gourtsoyiannis, N.; Bitsori, M.; Mamoulakis, D.

    2000-01-01

    Magnetic resonance imaging of pituitary hyperplasia has been rarely described in children with primary hypothyroidism. We report a case of pituitary hyperplasia in a child presented with significant growth arrest and laboratory evidence of hypothyroidism. Magnetic resonance imaging revealed symmetrical pituitary enlargement simulating macroadenoma. After thyroid hormone replacement therapy, the child's height increased and pituitary enlargement regressed to normal. Awareness of MRI appearance of pituitary hyperplasia in children with laboratory evidence of hypothyroidism might avoid misdiagnosis for pituitary tumor, which may also manifest as growth disorder, obviating unnecessary surgery. (orig.)

  5. Disruption of PC1/3 expression in mice causes dwarfism and multiple neuroendocrine peptide processing defects

    DEFF Research Database (Denmark)

    Zhu, Xiaorong; Zhou, An; Dey, Arunangsu

    2002-01-01

    vertebrates and invertebrates. Disruption of the gene-encoding mouse PC1/3 has now been accomplished and results in a syndrome of severe postnatal growth impairment and multiple defects in processing many hormone precursors, including hypothalamic growth hormone-releasing hormone (GHRH), pituitary...

  6. Changes of pituitary gland volume in Kennedy disease.

    Science.gov (United States)

    Pieper, C C; Teismann, I K; Konrad, C; Heindel, W L; Schiffbauer, H

    2013-12-01

    Kennedy disease is a rare X-linked neurodegenerative disorder caused by a CAG repeat expansion in the first exon of the androgen-receptor gene. Apart from neurologic signs, this mutation can cause a partial androgen insensitivity syndrome with typical alterations of gonadotropic hormones produced by the pituitary gland. The aim of the present study was therefore to evaluate the impact of Kennedy disease on pituitary gland volume under the hypothesis that endocrinologic changes caused by partial androgen insensitivity may lead to morphologic changes (ie, hypertrophy) of the pituitary gland. Pituitary gland volume was measured in sagittal sections of 3D T1-weighted 3T-MR imaging data of 8 patients with genetically proven Kennedy disease and compared with 16 healthy age-matched control subjects by use of Multitracer by a blinded, experienced radiologist. The results were analyzed by a univariant ANOVA with total brain volume as a covariant. Furthermore, correlation and linear regression analyses were performed for pituitary volume, patient age, disease duration, and CAG repeat expansion length. Intraobserver reliability was evaluated by means of the Pearson correlation coefficient. Pituitary volume was significantly larger in patients with Kennedy disease (636 [±90] mm(3)) than in healthy control subjects (534 [±91] mm(3)) (P = .041). There was no significant difference in total brain volume (P = .379). Control subjects showed a significant decrease in volume with age (r = -0.712, P = .002), whereas there was a trend to increasing gland volume in patients with Kennedy disease (r = 0.443, P = .272). Gland volume correlated with CAG repeat expansion length in patients (r = 0.630, P = .047). The correlation coefficient for intraobserver reliability was 0.94 (P pituitary volume that correlated with the CAG repeat expansion length. This could reflect hypertrophy as the result of elevated gonadotropic hormone secretion caused by the androgen receptor mutation with partial

  7. MRI of the liver and the pituitary gland in patients with {beta}-thalassemia major: Does hepatic siderosis predict pituitary iron deposition?

    Energy Technology Data Exchange (ETDEWEB)

    Argyropoulou, Maria I.; Efremidis, Stavros C. [Department of Radiology, Medical School, University of Ioannina, 45110 Ioannina (Greece); Kiortsis, Dimitrios N. [Laboratory of Physiology, Medical School, University of Ioannina, 45110 Ioannina (Greece)

    2003-01-01

    Our objective was to study, in thalassemic patients, if hepatic siderosis evaluated by MRI could predict the pituitary iron overload. In 36 thalassemic patients (age range 6-44 years, mean age 21.7 years) the liver/fat ratio (L/F), the pituitary/fat ratio (P/F), the liver and pituitary T2 relaxation times were evaluated, by using a multiecho spin-echo sequence. Serum ferritin levels were measured and an extensive endocrine evaluation was performed. The L/F, the P/F and pituitary T2 showed a good correlation with serum ferritin (r=-0.55, r=-0.55 and r=-0.53, respectively; p<0.01). Liver T2 did not show significant correlation with serum ferritin. The variability of L/F explained only the 10.8% of the variability of pituitary T2 and of the P/F. When ferritin was added to the model it predicted only the 26.85% and the 30.8% of the variability of pituitary T2 and of the P/F, respectively. The P/F and pituitary T2 were lower in patients with hypogonadotropic hypogonadism (group 1) compared with those without pituitary dysfunction (group 2). No significant differences of L/F were found between the two groups. Hepatic iron overload evaluated by MR is a poor predictor of pituitary siderosis. The MR studies of the pituitary gland might be necessary to evaluate the pituitary iron overload. (orig.)

  8. Function of the anterior pituitary gland following surgical and radiotherapeutical management for pituitary adenoma

    International Nuclear Information System (INIS)

    Pakisch, B.; Poier, E.; Stuecklschweiger, G.; Hackl, A.; Obermayer-Pietsch, B.; Warnkross, H.; Leb, G.; Mokry, M.; Clarici, G.

    1992-01-01

    Fifty-five adult patients with adenoma of the pituitary gland (20/55 with hyperfunctional tumors, 21/55 with endocrine inactive tumors, and 14/55 with hormonal deficits at the time of diagnosis) were studied retrospectively in terms of their endocrine outcome after surgery and radiotherapy. Twenty-two percent of the patients developed new hormone deficiency after surgery and 33% after radiotherapy. After a median follow-up time of 4.6 years, 44/53 patients had a pituitary dysfunction and 35/44 a gonadotropin deficiency. There seems to be a correlation between the daily single dose given and the development of endocrine dysfunction, as 15/35 (43%) of those patients who received 2.0 Gy per day developed hormonal deficiencies, compared to 6/20 (30%) of those who received 1.8 Gy per day. The median time from radiotherapy to onset of endocrine abnormalities was 19.7 months. Normalization of the prolactin levels occurred in 55% of the cases, and that of hGH levels in 80%. An ongoing hormone replacement was necessary in 69% of the patients. (orig.) [de

  9. Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome

    Directory of Open Access Journals (Sweden)

    Sang Soo Lee

    2017-03-01

    Full Text Available Growth hormone (GH is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma. Normal growth without GH can be explained by hyperinsulinemia, hyperprolactinemia, elevated leptin levels, and GH variants; however, its exact mechanism has not been elucidated yet. We diagnosed a female patient aged 13 with combined pituitary hormone deficiency (CPHD caused by pituitary stalk interruption syndrome (PSIS. The patient has experienced recurrent hypoglycemic seizures since birth, but reached the height of 160 cm at the age of 13, showing normal growth. She grew another 8 cm for 3 years after the diagnosis, and she reached her final adult height of 168 cm which was greater than the midparental height, at the age of 16. The patient's blood GH and insulin-like growth factor-I levels were consistently subnormal, although her insulin levels were normal. Her physical examination conducted at the age of 15 showed truncal obesity, dyslipidemia, and osteoporosis, which are metabolic features of GH deficiency (GHD. Herein, we report a case in which a PSIS-induced CPHD patient attained her final height above mid parental height despite a severe GHD.

  10. Dexamethasone PONV prophylaxis alters the hypothalamic-pituitary-adrenal axis after transsphenoidal pituitary surgery.

    Science.gov (United States)

    Burkhardt, Till; Rotermund, Roman; Schmidt, Nils-Ole; Kiefmann, Rainer; Flitsch, Jörg

    2014-07-01

    Postoperative nausea and vomiting (PONV) is common after general anesthesia and are reported by approximately 20% to 25% of all patients and up to 39% of patients undergoing neurosurgical procedures. The most common standard prophylaxis is a single application of 4 mg of dexamethasone before initiating anesthesia. Dexamethasone is known to suppress adreno-corticotroph hormone and cortisol levels. The objective was to find out whether this prophylaxis has an effect on the postoperative levels of cortisol in patients undergoing transsphenoidal pituitary surgery, and therefore simulates pituitary deficiency. A retrospective analysis of the files of 136 consecutive patients who were operated during a course of 6 months were included. Nineteen patients with a known history of PONV received a standard dose of 4 mg of dexamethasone perioperatively. Blood tests were drawn at the first postoperative day and were compared with blood tests of patients who had no history of PONV and therefore received no prophylaxis. Patients who were treated with a dexamethasone PONV prophylaxis showed no significant changes in cortisol levels; preoperative median of 93 μg/L (range, 39 to 427) and a postoperative median of 87 μg/L (range, 10 to 733; P=0.798) opposed to patients who did not receive such treatment; preoperative cortisol 114 μg/L (range, 10 to 387) and postoperative levels of 273 μg/L (range, 10 to 1352; Ptranssphenoidal surgery, the probability that dexamethasone PONV prophylaxis suppresses postoperative cortisol levels should be considered.

  11. Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.

    Science.gov (United States)

    Piane, Maria; Della Monica, Matteo; Piatelli, Gianluca; Lulli, Patrizia; Lonardo, Fortunato; Chessa, Luciana; Scarano, Gioacchino

    2009-11-01

    We report on a 3-year-old boy with prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead with receded hairline, sparse scalp hair, beaked nose, mild retrognathia and hypotonia diagnosed at birth as Seckel syndrome. At age 3 years, he became paralyzed due to a cerebrovascular malformation. Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome. Western blot analysis of the patient's lymphoblastoid cell line lysate showed the absence of the protein pericentrin. Subsequent molecular analysis identified a novel homozygous single base insertion (c.1527_1528insA) in exon 10 of the PCNT gene, which leads to a frameshift (Treo510fs) and to premature protein truncation. PCNT mutations must be considered diagnostic of MOPD II syndrome. A possible role of pericentrin in the development of cerebral vessels is suggested. Copyright 2009 Wiley-Liss, Inc.

  12. Familial Isolated Pituitary Adenomas (FIPA) and the Pituitary Adenoma Predisposition due to Mutations in the Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene

    Science.gov (United States)

    Aaltonen, Lauri A.; Daly, Adrian F.

    2013-01-01

    Pituitary adenomas are one of the most frequent intracranial tumors and occur with a prevalence of approximately 1:1000 in the developed world. Pituitary adenomas have a serious disease burden, and their management involves neurosurgery, biological therapies, and radiotherapy. Early diagnosis of pituitary tumors while they are smaller may help increase cure rates. Few genetic predictors of pituitary adenoma development exist. Recent years have seen two separate, complimentary advances in inherited pituitary tumor research. The clinical condition of familial isolated pituitary adenomas (FIPA) has been described, which encompasses the familial occurrence of isolated pituitary adenomas outside of the setting of syndromic conditions like multiple endocrine neoplasia type 1 and Carney complex. FIPA families comprise approximately 2% of pituitary adenomas and represent a clinical entity with homogeneous or heterogeneous pituitary adenoma types occurring within the same kindred. The aryl hydrocarbon receptor interacting protein (AIP) gene has been identified as causing a pituitary adenoma predisposition of variable penetrance that accounts for 20% of FIPA families. Germline AIP mutations have been shown to associate with the occurrence of large pituitary adenomas that occur at a young age, predominantly in children/adolescents and young adults. AIP mutations are usually associated with somatotropinomas, but prolactinomas, nonfunctioning pituitary adenomas, Cushing disease, and other infrequent clinical adenoma types can also occur. Gigantism is a particular feature of AIP mutations and occurs in more than one third of affected somatotropinoma patients. Study of pituitary adenoma patients with AIP mutations has demonstrated that these cases raise clinical challenges to successful treatment. Extensive research on the biology of AIP and new advances in mouse Aip knockout models demonstrate multiple pathways by which AIP may contribute to tumorigenesis. This review assesses

  13. Signaling pathway networks mined from human pituitary adenoma proteomics data

    Directory of Open Access Journals (Sweden)

    Zhan Xianquan

    2010-04-01

    Full Text Available Abstract Background We obtained a series of pituitary adenoma proteomic expression data, including protein-mapping data (111 proteins, comparative proteomic data (56 differentially expressed proteins, and nitroproteomic data (17 nitroproteins. There is a pressing need to clarify the significant signaling pathway networks that derive from those proteins in order to clarify and to better understand the molecular basis of pituitary adenoma pathogenesis and to discover biomarkers. Here, we describe the significant signaling pathway networks that were mined from human pituitary adenoma proteomic data with the Ingenuity pathway analysis system. Methods The Ingenuity pathway analysis system was used to analyze signal pathway networks and canonical pathways from protein-mapping data, comparative proteomic data, adenoma nitroproteomic data, and control nitroproteomic data. A Fisher's exact test was used to test the statistical significance with a significance level of 0.05. Statistical significant results were rationalized within the pituitary adenoma biological system with literature-based bioinformatics analyses. Results For the protein-mapping data, the top pathway networks were related to cancer, cell death, and lipid metabolism; the top canonical toxicity pathways included acute-phase response, oxidative-stress response, oxidative stress, and cell-cycle G2/M transition regulation. For the comparative proteomic data, top pathway networks were related to cancer, endocrine system development and function, and lipid metabolism; the top canonical toxicity pathways included mitochondrial dysfunction, oxidative phosphorylation, oxidative-stress response, and ERK/MAPK signaling. The nitroproteomic data from a pituitary adenoma were related to cancer, cell death, lipid metabolism, and reproductive system disease, and the top canonical toxicity pathways mainly related to p38 MAPK signaling and cell-cycle G2/M transition regulation. Nitroproteins from a

  14. Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype

    OpenAIRE

    Ali Al Kaissi; Farid Ben Chehida; Rudolf Ganger; Franz Grill

    2014-01-01

    We report on a female fetus noted to have severe malformative type of skeletal dysplasia on ultrasonography done at 35 weeks gestation. The girl died shortly after birth. Clinical examination showed a fetus with severe dwarfism, extensive long and short bones, and bone deficiencies associated with multiple dislocations. Computed tomography (CT) scan-based phenotype showed a complex constellation of malformations consistent with the diagnosis of Grebe syndrome. Parents being first cousins (con...

  15. Pituitary apoplexy precipitating diabetes insipidus after living donor liver transplantation.

    Science.gov (United States)

    Matsusaki, Takashi; Morimatsu, Hiroshi; Matsumi, Junya; Matsuda, Hiroaki; Sato, Tetsufumi; Sato, Kenji; Mizobuchi, Satoshi; Yagi, Takahito; Morita, Kiyoshi

    2011-02-01

    Pituitary apoplexy occurring after surgery is a rare but life-threatening acute clinical condition that follows extensive hemorrhagenous necrosis within a pituitary adenoma. Pituitary apoplexy has been reported to occur spontaneously in the majority of cases or in association with various inducing factors. Reported is a case of pituitary apoplexy complicated by diabetes insipidus following living donor liver transplantation (LDLT). To the best of our knowledge, this has not been previously reported. A 56-year-old woman with nonalcoholic steatohepatitis underwent LDLT from her daughter. The patient also required dopamine support and transfusions because of massive intraoperative bleeding. Postoperatively, her coagulopathy continued, and she underwent a second laparotomy because of unknown bleeding on postoperative day 7, when she needed transfusions and dopamine support to maintain her vital signs. She complained of severe headache, excessive thirst, frequent urination, and diplopia from postoperative day 10. She also had polyuria greater than 300 ml/h and was diagnosed with pituitary apoplexy precipitating diabetes insipidus on postoperative day 13. She was treated conservatively without surgery because of the hormonally inactive status and slight mass effect of her tumor. It is important for anesthesiologists and critical care personnel in LDLT settings to take into consideration this complication as a differential diagnosis.

  16. Outcomes following Purely Endoscopic Endonasal Resection of Pituitary adenomas

    Directory of Open Access Journals (Sweden)

    Rezaul Amin

    2013-01-01

    Full Text Available Background: The use of endoscope for the management of pituitary adenoma is not new. The better magnification and illumination provided by the endoscope gives better outcome than microscopic pituitary surgery. Objective: To find out the benefits of endoscope in relation to microscopic surgery. Materials and Methods: We performed 45 cases of pituitary adenoma surgery by endoscopic endonasal approach from July 2008 to July 2010. Results: Forty five cases underwent endoscopic transsphenoidal approach. Gross total removal was done in 35 cases and subtotal removal was done in 10 cases. Residual tumours were seen in 10 cases (22% in postoperative follow-up MRI scan. Visual improvement was satisfactory, and hormonal improvement of functional adenoma was nice. Postoperative visual acuity and visual field were improved in 75% cases. There were 37% cases of temporary diabetes insipidus and about 4.5% cases of permanent diabetes insipidus. The average duration of follow-up was 20 months. One patient required reexploration to correct visual deterioration in the immediate postoperative period. There were 4.5% cases of CSF leak and 6.6% mortality. Mortality was due to electrolyte imbalance and improper management of infection and hydrocephalus. Conclusion: Endoscopic endonasal pituitary surgery now has become a gold standard surgery for most of the pituitary adenomas because of its better advantages in relation to microscopic surgery and less complications and less hospital stay.

  17. Fractionated stereotactic radiotherapy in the treatment of pituitary adenomas

    International Nuclear Information System (INIS)

    Kopp, C.; Theodorou, M.; Poullos, N.; Astner, S.T.; Geinitz, H.; Molls, M.; Stalla, G.K.; Meyer, B.; Nieder, C.; Tromsoe Univ.; Grosu, A.L

    2013-01-01

    Purpose: The purpose of this work was to evaluate tumor control and side effects associated with fractionated stereotactic radiotherapy (FSRT) in the management of residual or recurrent pituitary adenomas. Patients and methods: We report on 37 consecutive patients with pituitary adenomas treated with FSRT at our department. All patients had previously undergone surgery. Twenty-nine patients had nonfunctioning, 8 had hormone-producing adenoma. The mean total dose delivered by a linear accelerator was 49.4 Gy (range 45-52.2 Gy), 5 x 1.8 Gy weekly. The mean PTV was 22.8 ccm (range 2.0-78.3 ccm). Evaluation included serial imaging tests, endocrinologic and ophthalmologic examination. Results: Tumor control was 91.9 % for a median follow-up time of 57 months (range 2-111 months). Before FSRT partial hypopituitarism was present in 41 % of patients, while 35 % had anterior panhypopituitarism. After FSRT pituitary function remained normal in 22 %, 43 % had partial pituitary dysfunction, and 35 % had anterior panhypopituitarism. Visual acuity was stable in 76 % of patients, improved in 19 %, and deteriorated in 5 %. Visual fields remained stable in 35 patients (95 %), improved in one and worsened in 1 patient (2.7 %). Conclusion: FSRT is an effective and safe treatment for recurrent or residual pituitary adenoma. Good local tumor control and preservation of adjacent structures can be reached, even for large tumors. (orig.)

  18. Treatment of Cushing's disease in juveniles with intestinal pituitary irradiation

    International Nuclear Information System (INIS)

    Cassar, J.; Doyle, F.H.; Mashiter, K.; Joplin, G.F.

    1979-01-01

    Nine juvenile patients (five boys and four girls aged 10-18) with Cushing's disease were treated with pituitary implantation of 198 Au and/or 90 Y. No patient had any surgical complication from this procedure. At the latest assessment. 3 months to 17 years after operation, Cushing's disease was in remission in all the patients; the response time following operation was a few days to 3 months. Radiology of the pituitary fossa at time of pituitary implantation was normal in all patients and remains so. The final height in six patients is 149-172 cm (59-67.5 inches) and three patients who continue to grow have increased by 13.6 and 3 cm since implantation. Only one patient required full pituitary hormone replacement therapy, and he had been previously treated by external irradiation, and one other patient failed to complete puberty. In all the other seven sexual maturation is normal and one has fathered two children. It is concluded that pituitary implantation with interstitial irradiation is a satisfactory form of treatment for Cushing's disease in juveniles. (author)

  19. Neurofibromin regulates somatic growth through the hypothalamic–pituitary axis

    Science.gov (United States)

    Hegedus, Balazs; Yeh, Tu-Hsueh; Lee, Da Yong; Emnett, Ryan J.; Li, Jia; Gutmann, David H.

    2008-01-01

    To study the role of the neurofibromatosis-1 (NF1) gene in mammalian brain development, we recently generated mice in which Nf1 gene inactivation occurs in neuroglial progenitor cells using the brain lipid binding protein (BLBP) promoter. We found that Nf1BLBPCKO mice exhibit significantly reduced body weights and anterior pituitary gland sizes. We further demonstrate that the small anterior pituitary size reflects loss of neurofibromin expression in the hypothalamus, leading to reduced growth hormone releasing hormone, pituitary growth hormone (GH) and liver insulin-like growth factor-1 (IGF1) production. Since neurofibromin both negatively regulates Ras activity and positively modulates cAMP levels, we examined the signaling pathway responsible for these abnormalities. While BLBP-mediated expression of an activated Ras molecule did not recapitulate the body weight and hypothalamic/pituitary defects, treatment of Nf1BLBPCKO mice with rolipram to increase cAMP levels resulted in a partial restoration of the body weight phenotype. Furthermore, conditional expression of the Ras regulatory GAP domain of neurofibromin also did not rescue the body weight or Igf1 mRNA defects in Nf1BLBPCKO mice. Collectively, these data demonstrate a critical role for neurofibromin in hypothalamic–pituitary axis function and provide further insights into the short stature and GH deficits seen in children with NF1. PMID:18614544

  20. Reformatted CT diagnosis of pituitary microadenomas in hyperprolactinemic women

    International Nuclear Information System (INIS)

    Sakamoto, Tetsuya; Kikuchi, Kenji; Kowada, Masayoshi; Hariu, Mineko; Miyauchi, Koji

    1983-01-01

    The CT diagnosis of pituitary microadenomas was made in 13 among 20 female sterile patients with hyperprolactinemia, utilizing sagittal- and coronal-sectioned reformation on the basis of 1.5 mm-sliced high-resolution axial CT scanning. The pituitary stalk was found to have been shifted in 10 patients, and in all of them adenomas were verified. This was in contrast to the findings that, among another 10 patients with no definite evidence of the stalk shifting, only 3 patients had adenomas. Pituitary adenomas were present in 11 of the 12 patients demonstrating the pituitary suface in a ''convex'' fashion. In contrast, 2 among 6 patients with a ''flat'' surface demonstrated the presence of pituitary adenomas. Enhancement patterns in the sella could be classified as of four types: homogeneous, diffuse-low, punched-out, and nodular types. The adenomas tended to occur in either the nodular or diffuse-low type; they were less frequently seen in the punched-out or homogeneous type. With regard to the correlation between the patterns of contrast enhancement and the serum concentrations of prolactin, it may be of note that the nodular type corresponded well to the higher prolactin serum level, and the homogeneous type to the lower level. (author)