Thyroid Autoimmunity in Girls with Turner Syndrome.

Science.gov (United States)

Witkowska-Sędek, Ewelina; Borowiec, Ada; Kucharska, Anna; Chacewicz, Karolina; Rumińska, Małgorzata; Demkow, Urszula; Pyrżak, Beata

2017-01-01

Turner syndrome is associated with increased incidence of autoimmune diseases, especially those of the thyroid gland. The aim of this study was to assess the prevalence of thyroid autoimmunity among pediatric patients with Turner syndrome. The study was retrospective and included 41 girls with Turner syndrome aged 6-18 years. Free thyroxine (FT4), thyroid stimulating hormone (TSH), anti-thyroid peroxidase (TPO-Ab) antibodies, anti-thyroglobulin (TG-Ab) antibodies, and karyotype were investigated. The correlation between karyotype and incidence of thyroid autoimmunity was also examined. Eleven patients (26.8%) were positive for TPO-Ab and/or TG-Ab. Three girls from that subgroup were euthyroid, 5 had subclinical hypothyroidism, and 3 were diagnosed with overt hypothyroidism. Out of these 11 patients affected by thyroid autoimmunity, 6 girls had mosaic karyotype with X-isochromosome (n = 4) or with deletions (n = 2), and 5 had the 45,X karyotype. The study findings confirmed a high incidence of thyroid autoimmunity in girls with Turner syndrome, but we failed to observe an association between the incidence of thyroid autoimmunity and karyotype. We conclude that it is important to monitor thyroid function in patients with Turner syndrome because they are prone to develop hypothyroidism.

[Turner syndrome and genetic polymorphism: a systematic review].

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Trovó de Marqui, Alessandra Bernadete

2015-01-01

To present the main results of the literature on genetic polymorphisms in Turner Syndrome and their association with the clinical signs and the etiology of this chromosomal disorder. The review was conducted in the PubMed database without any time limit, using the terms Turner syndrome and genetic polymorphism. A total of 116 articles were found, and based on the established inclusion and exclusion criteria 17 were selected for the review. The polymorphisms investigated in patients with Turner Syndrome were associated with growth deficit, causing short stature, low bone mineral density, autoimmunity and cardiac abnormalities, which are frequently found in patients with Turner Syndrome. The role of single nucleotide polymorphisms (SNPs) in the etiology of Turner syndrome, i.e., in chromosomal nondisjunction, was also confirmed. Genetic polymorphisms appear to be associated with Turner Syndrome. However, in view of the small number of published studies and their contradictory findings, further studies in different populations are needed in order to clarify the role of genetic variants in the clinical signs and etiology of the Turner Syndrome. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

Turner Syndrome in Girls Presenting with Coarctation of the Aorta.

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Eckhauser, Aaron; South, Sarah T; Meyers, Lindsay; Bleyl, Steven B; Botto, Lorenzo D

2015-11-01

To evaluate the frequency of Turner syndrome in a population-based, statewide cohort of girls with coarctation of the aorta. The Utah Birth Defects Network was used to ascertain a cohort of girls between 1997 and 2011 with coarctation of the aorta. Livebirths with isolated coarctation of the aorta or transverse arch hypoplasia were included and patients with complex congenital heart disease not usually seen in Turner syndrome were excluded. Of 244 girls with coarctation of the aorta, 77 patients were excluded, leaving a cohort of 167 girls; 86 patients (51%) had chromosomal studies and 21 (12.6%) were diagnosed with Turner syndrome. All patients were diagnosed within the first 4 months of life and 5 (24%) were diagnosed prenatally. Fifteen patients (71%) had Turner syndrome-related findings in addition to coarctation of the aorta. Girls with mosaicism were less likely to have Turner syndrome-associated findings (3/6 mosaic girls compared with 12/17 girls with non-mosaic 45,X). Twelve girls (57%) diagnosed with Turner syndrome also had a bicommissural aortic valve. At least 12.6% of girls born with coarctation of the aorta have karyotype-confirmed Turner syndrome. Such a high frequency, combined with the clinical benefits of an early diagnosis, supports genetic screening for Turner syndrome in girls presenting with coarctation of the aorta. Copyright © 2015 Elsevier Inc. All rights reserved.

Features of Turner syndrome among a group of Cameroonian patients.

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Wonkam, Ambroise; Veigne, Sandra W; Abass, Ali; Ngo Um, Suzanne; Noubiap, Jean Jacques N; Mbanya, Jean-Claude; Sobngwi, Eugene

2015-06-01

To describe the features of Turner syndrome among a group of Cameroonian patients. A descriptive cross-sectional study was conducted among patients with amenorrhea and/or short stature who attended the genetic unit of Yaoundé Gynecology, Obstetrics and Pediatric Hospital (Yaoundé, Cameroon) for a specialist consultation between July 1, 2007, and December 31, 2008. Sociodemographic, clinical, and cytogenetic data were collected. Turner syndrome was confirmed among 11 of the 14 participants (seven had monosomy of the X chromosome; four had mosaicism involving a structural abnormality of the second X chromosome). The mean age at diagnosis was 18.4±2.8years. The reasons for consultation were delayed puberty (n=10) and short stature (n=1). Nine patients had a short neck, nine had a forearm carrying-angle deformity, eight had a low hairline, and two had a webbed neck. Abdominal ultrasonography identified a horseshoe kidney in two patients and a rudimentary uterus in nine patients. None of the patients displayed cardiac abnormalities. Hypergonadotropic hypogonadism was reported among five patients. Eight patients did not receive hormonal treatment owing to advanced bone age or economic reasons. Late diagnosis and variable phenotypic expression were key features of Cameroonian patients with Turner syndrome. Copyright © 2015 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

Prevalence of pilomatricoma in Turner syndrome: findings from a multicenter study.

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Handler, Marc Z; Derrick, Kristina M; Lutz, Richard E; Morrell, Dean S; Davenport, Marsha L; Armstrong, April W

2013-05-01

The absence of data on the prevalence of pilomatricoma among patients with Turner syndrome served as the catalyst for this multicenter investigation. To ascertain the prevalence of pilomatricoma among patients with Turner syndrome and to determine any association between the development of pilomatricomas and the use of exogenous hormones in patients with Turner syndrome. A retrospective medical record review from January 1, 2000, through January 1, 2010, was performed of all patients with Turner syndrome. Data on pilomatricomas and the use of hormone therapy were collected. University of California-Davis Medical Center, University of Nebraska Medical Center, and The University of North Carolina at Chapel Hill. Patients with a diagnosis of Turner syndrome. Prevalence of concomitant pilomatricoma and diagnosis of Turner syndrome. Secondary outcome measures included the use of the exogenous hormones estrogen or recombinant human growth hormone (rhGH). In total, 311 patients with Turner syndrome were identified from these 3 institutions. Among them, 8 patients (2.6%) were diagnosed as having pilomatricomas. Before the development of pilomatricomas, 5 patients had been treated with rhGH but not estrogen, 1 patient had received estrogen but not rhGH, and 2 patients did not receive either therapy. Although the prevalence of pilomatricoma among the general population is unknown, this study demonstrates a high prevalence (2.6%) of pilomatricomas among patients with Turner syndrome. No apparent relationship was noted among our patients or in the literature between the use of rhGH and the development of pilomatricomas.

Nailfold video capillaroscopy in Turner syndrome: a descriptive study

OpenAIRE

Coelho,Simone C. S.; Ramos,Andressa D.; Pinheiro,Virgínia S.; Solberg,Paulo F. C.; Faria,Janaina P. de; Naliato,Erika C. O.; Fernandes,Therezinha J.; Guimarães,Marília M.

2007-01-01

BACKGROUND: An increased prevalence of impaired glucose homeostasis is reported in Turner syndrome. Endothelial changes are described in patients with insulin resistance, which may be present in patients with Turner syndrome. Video capillaroscopy is a noninvasive examination that allows assessment of vascular patency. OBJECTIVE: To describe the nailfold morphology of capillaries in Turner syndrome using video capillaroscopy. METHODS: Subjects were studied in a temperature-controlled room, 20 ...

Concurrent insulinoma with mosaic Turner syndrome: A case report.

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Wang, Shaoyun; Yang, Lijuan; Li, Jie; Mu, Yiming

2015-03-01

Turner syndrome is a chromosomal abnormality in which the majority of patients have a 45XO karyotype, while a small number have a 45XO/47XXX karyotype. Congenital adrenal hyperplasia has been previously reported in patients with Turner syndrome. Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine neoplasias, the tumors have not been reported in patients with mosaic Turner syndrome. The present study reports the first case of an insulinoma in a patient with 45XO/47XXX mosaic Turner syndrome. The patient suffered from recurrent hypoglycemia, which was relieved following ingestion of glucose or food. A 5-h glucose tolerance test was performed and the levels of glucose, C-Peptide and insulin were detected. In addition, computed tomography (CT) and ultrasound scanning were performed to evaluate the possibility of an insulinoma. Pathological examination and karyotyping were performed on a surgical specimen and a whole blood sample, respectively. The patient was found to suffer from premature ovarian failure, and a physical examination was consistent with a diagnosis of Turner syndrome. An ultrasound scan demonstrated streak ovaries and the patient was found to have a 45XO/47XXX karyotype. Furthermore, a lesion was detected in the pancreas following CT scanning, which was identified as an insulinoma following surgical removal and histological examination. In conclusion, the present study reports the first case of an insulinoma in a patient with mosaic Turner syndrome. Since mosaic Turner syndrome and insulinoma are rare diseases, an association may exist that has not been previously identified.

Genetics Home Reference: Turner syndrome

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... Email Facebook Twitter Home Health Conditions Turner syndrome Turner syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Turner syndrome is a chromosomal condition that affects development in ...

Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia

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Alkhayyat, H.; Christesen, Henrik Thybo; Steer, J.

2006-01-01

BACKGROUND: A common and well recognised feature of Turner's syndrome (partial or total monosomy X) is impaired glucose tolerance or type 2 diabetes mellitus. A small percentage of patients with Turner's syndrome have a complex mosaic karyotype with atypical clinical features and mental retardation....... METHODS/PATIENT: We report the first case of a child with a complex mosaic Turner genotype and hyperinsulinaemic hypoglycaemia responsive to diazoxide therapy. RESULTS: Cytogenetic analysis showed four cell lines: one with 45,X; the others with an additional small ring chromosome, a small marker...... chromosome, and both the ring and marker chromosomes, respectively. FISH studies showed the abnormal chromosomes to originate from an X. The X inactivation locus (XIST) was present in the ring, but not in the marker chromosome. CONCLUSIONS: The recognition of hypoglycaemia in children with atypical Turner...

Noonan syndrome and Turner syndrome patients respond similarly to 4 years' growth-hormone therapy

DEFF Research Database (Denmark)

Lee, Peter A; Ross, Judith L; Pedersen, Birgitte Tønnes

2015-01-01

BACKGROUND: Turner syndrome (TS) and Noonan syndrome (NS) are distinct syndromes associated with short stature and other similar phenotypic features. We compared the responses to growth hormone (GH) therapy of TS and NS patients enrolled in the NordiNet® International Outcome Study (IOS...

Partial anomalous pulmonary venous return in Turner syndrome

NARCIS (Netherlands)

Hoven, A.T. van den; Chelu, R.G.; Duijnhouwer, A.L.; Demulier, L.; Devos, D.; Nieman, K.; Witsenburg, M.; Bosch, A.E. van den; Loeys, B.L.; Hagen, I.M. van; Roos-Hesselink, J.W.

2017-01-01

PURPOSE: The aim of this study is to describe the prevalence, anatomy, associations and clinical impact of partial anomalous pulmonary venous return in patients with Turner syndrome. METHODS AND RESULTS: All Turner patients who presented at our Turner clinic, between January 2007 and October 2015

Autoimmune diseases in women with Turner's syndrome

DEFF Research Database (Denmark)

Jørgensen, Kristian T; Rostgaard, Klaus; Bache, Iben

2010-01-01

OBJECTIVE: In terms of number of X chromosomes, women with Turner's syndrome cytogenetically resemble men. An increased risk of autoimmune diseases has been observed among women with Turner's syndrome. This study was undertaken to investigate whether the autoimmune disease profile in women...... with Turner's syndrome is characterized by diseases with a female or male predominance. METHODS: Using the Danish Cytogenetic Central Register, the Danish National Patient Register, and the Danish Civil Registration System, we estimated relative risk of 46 different autoimmune diseases in a cohort of 798...... Danish women with Turner's syndrome followed up for 12,461 person-years between 1980 and 2004. Standardized incidence ratios (SIRs) of first hospitalization for autoimmune disease and 95% confidence intervals (95% CIs) were used as measures of relative risk. RESULTS: The overall risk of autoimmune...

[Nephrourologic pathology in girls with Turner syndrome].

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Di Pinto, Diana; Balestracci, Alejandro; Dujovne, Noelia; de Palma, Isabel; Adragna, Marta; Delgado, Norma

2010-08-01

Nephrourologic malformations in Turner syndrome are frequent, its diagnosis and follow-up is important in order to diminish the morbidity of this disease. The aim of this retrospective study was to analyze the nephrourologic pathology in 72 girls with Turner syndrome followed between 1989 and 2008 at Garrahan Hospital. The prevalence of nephrourologic involvement was 33% (24 patients). The most frequent findings were urinary system malformations, isolated (10 pacientes, 42%) or associated with renal malformations (9 patients, 37%); 5 patients (21%) had only renal malformations. Fifty percent of patients developed complications (8 urinary tract infection, 2 proteinuria and 2 arterial hypertension); however, none progressed to chronic renal failure. The prevalence of nephrourologic involvement was 33% and a half of these girls developed complications, our findings show the need of routine nephrological follow-up of girls with Turner syndrome and nephrourologic malformations.

Hypertensive Cerebral Hemorrhage in a Patient with Turner Syndrome Caused by Deletion in the Short Arm of the X Chromosome.

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Hori, Yusuke S; Ohkura, Takahiro; Ebisudani, Yuki; Umakoshi, Michiari; Ishi, Masato; Oda, Kazunori; Aoi, Mizuho; Inoue, Takushi; Furujo, Mahoko; Tanaka, Hiroyuki; Fukuhara, Toru

2018-01-01

Turner syndrome is a chromosomal disorder usually caused by complete deletion of an X chromosome, with deletion in the short arm of the X chromosome being a rare cause of the condition. Patients with Turner syndrome commonly develop hypertension, and associated vascular complications such as aortic dissection or cerebral hemorrhage have been reported. Cerebral hemorrhage in Turner syndrome is a rare complication, and only a few reports have been published. In these reports, all patients have XO karyotypes or a mosaic type as the cause of Turner syndrome, while no other Turner syndrome types have been documented. In this report, we present for the first time a patient with Turner syndrome caused by deletion in the short arm of the X chromosome who experienced hypertensive hemorrhage as a late complication. © 2017 S. Karger AG, Basel.

Parsonage-Turner syndrome in a patient with bilateral shoulder pain: A case report.

Science.gov (United States)

Ohta, Ryuichi; Shimabukuro, Akira

2017-11-01

Objective: Parsonage-Turner syndrome is a peripheral neuropathy characterized by acute onset shoulder pain, myalgia, and sensory disturbances. The present report discusses a rare case of Parsonage-Turner syndrome and highlights the importance of accurate history recording and thorough physical examination for the diagnosis of the disease in rural areas. Patient: A 28-year-old woman presented to our clinic with acute bilateral shoulder pain and difficulty moving her right arm. A diagnosis of Parsonage-Turner syndrome was suspected based on the progression of symptoms, severity of pain, and lack of musculoskeletal inflammation. The diagnosis was confirmed by neurological specialists, and the patient was treated with methylprednisolone, after which her symptoms gradually improved. Discussion: The differential diagnosis of shoulder pain is complicated due to the wide variety of conditions sharing similar symptoms. Accurate history recording and thorough physical examination are required to differentiate among conditions involving the central nerves, peripheral nerves, and nerve plexuses. Conclusion: Although the symptoms of Parsonage-Turner syndrome vary based on disease progression and the location of impairment, proper diagnosis of acute shoulder pain without central neurological symptoms can be achieved in rural areas via thorough examination.

X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report

OpenAIRE

Telepova, Alena S.; Romanenko, Svetlana A.; Lemskaya, Natalya A.; Maksimova, Yulia V.; Shorina, Asia R.; Yudkin, Dmitry V.

2017-01-01

Background Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome. Case presentation Here, we present a case report of a patient with mosaic Turner syndrome and Dandy-Walker syndrome carrying a marker chromosome. We showed the presence of the marker chromosome in 33.8% of blood cells. FISH of the probe derived from the marker chromosome by microdissection revealed that it originated from the ce...

Cardiovascular screening in Turner syndrome

International Nuclear Information System (INIS)

Dawson, K.L.; Wright, A.M.; Pitlick, P.T.

1990-01-01

This paper determines the utility of MR imaging as a cardiovascular screening method in patients with Turner syndrome and to compare its utility with that of echocardiography. Forty females with karytotypically proved Turner syndrome were prospectively evaluated with MR imaging and echocardiography. A 0.38-T resistive magnet was used to obtain ECG-gated axial and off-sagittal oblique images through the thorax with a spin-echo pulse sequence and TR 400--600 msec, TE 15--30 msec. Two-dimensional, M-mode, and Doppler echocardiography were performed and standard echocardiographic views were obtained

Turner Syndrome

Directory of Open Access Journals (Sweden)

Ramachandran Sudarshan

2012-08-01

Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

Aortic dilatation in patients with Turner's syndrome without structural cardiac anomaly.

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Alami Laroussi, Nassiba; Dahdah, Nagib; Dallaire, Frédéric; Thérien, Johanne; Fournier, Anne

2016-03-01

Dilatation of the ascending aorta is described in Turner's syndrome with variable prevalence (6.8-32%). Reported series typically include patients with associated cardiac anomalies. To characterise the prevalence, age of onset, and the progress of dilatation of the ascending aorta in Turner's syndrome patients free of structural cardiac anomalies. Potential risk factors such as karyotype and growth hormone therapy were analysed for correlation with aortic dilatation. We carried out a retrospective study with data collected from medical records and echocardiography studies. Patients with Tuner's syndrome followed-up between 1992 and 2010 with at least two echocardiography studies were eligible. Patients with previous cardiac surgery or under anti-hypertensive medication were excluded. Ascending aorta diameter measurements were adjusted for body surface area, and dilatation was defined as Z-score>2. The study population consisted of 44 patients, aged 11.9±7.4 years at the first echocardiogram and 17.9±7.3 years at the last follow-up, with a follow-up duration of 6.0±3.7 years. A total of 13 (29.5%) patients exhibited aortic dilatation during follow-up, suggesting an actuarial estimate of the freedom from aortic dilatation dropping from 86 to 70% and then to 37% at 10, 20, and 30 years of age, respectively. There was no statistically significant impact of karyotype or growth hormone therapy on aortic Z-score progression. The prevalence of dilatation of the ascending aorta in Turner's syndrome patients free of structural aortic anomalies is comparable with published data with associated lesions. Growth hormone therapy and karyotype had no significant impact; however, longitudinal follow-up is warranted.

Cardiovascular evaluation in Turner syndrome: utility of MR imaging

International Nuclear Information System (INIS)

Dawson-Falk, K.; Bakker, B.; Rosenfeld, R.G.

1992-01-01

Forty patients with karyotypically proven Turner syndrome were prospectively studied using magnetic resonance imaging (MRI) and echocardiography in order to determine the frequency of cardiovascular anomalies and to assess the utility of both imaging modalities as methods for cardiovascular evaluation in Turner syndrome. Cardiovascular anomalies were found in 45% of patients. A high absolute prevalence of bicuspid aortic valve (17.5%) and aortic coarctation (12.5%) were observed relative to comparable series. Of clinically significant abnormalities, three of five aortic coarctations and four of five ascending aortic dilatations were solely MRI detected and not evident at echocardiographic examination. MRI is thus seen as a valuable adjunct to echocardiography in the cardiovascular evaluation of Turner syndrome patients. The usefulness of MRI primarily relates to its ability to provide excellent visualisation of the entire thoracic aorta where a large proportion of clinically significant anomalies occur in Turner syndrome. 23 refs., 2 tabs., 5 figs

Cardiovascular evaluation in Turner syndrome: utility of MR imaging

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Dawson-Falk, K; Bakker, B; Rosenfeld, R G [Stanford Univ., CA (United States). School of Medicine

1992-08-01

Forty patients with karyotypically proven Turner syndrome were prospectively studied using magnetic resonance imaging (MRI) and echocardiography in order to determine the frequency of cardiovascular anomalies and to assess the utility of both imaging modalities as methods for cardiovascular evaluation in Turner syndrome. Cardiovascular anomalies were found in 45% of patients. A high absolute prevalence of bicuspid aortic valve (17.5%) and aortic coarctation (12.5%) were observed relative to comparable series. Of clinically significant abnormalities, three of five aortic coarctations and four of five ascending aortic dilatations were solely MRI detected and not evident at echocardiographic examination. MRI is thus seen as a valuable adjunct to echocardiography in the cardiovascular evaluation of Turner syndrome patients. The usefulness of MRI primarily relates to its ability to provide excellent visualisation of the entire thoracic aorta where a large proportion of clinically significant anomalies occur in Turner syndrome. 23 refs., 2 tabs., 5 figs.

Effect of oxandrolone therapy on adult height in Turner syndrome patients treated with growth hormone: a meta-analysis.

Science.gov (United States)

Sheanon, Nicole M; Backeljauw, Philippe F

2015-01-01

Turner syndrome is a chromosomal abnormality in which there is complete or partial absence of the X chromosome. Turner syndrome effects 1 in every 2000 live births. Short stature is a cardinal feature of Turner Syndrome and the standard treatment is recombinant human growth hormone. When growth hormone is started at an early age a normal adult height can be achieved. With delayed diagnosis young women with Turner Syndrome may not reach a normal height. Adjuvant therapy with oxandrolone is used but there is no consensus on the optimal timing of treatment, the duration of treatment and the long term adverse effects of treatment. The objective of this review and meta-analysis is to examine the effect of oxandrolone on adult height in growth hormone treated Turner syndrome patients. Eligible trials were identified by a literature search using the terms: Turner syndrome, oxandrolone. The search was limited to English language randomized-controlled trials after 1980. Twenty-six articles were reviewed and four were included in the meta-analysis. A random effects model was used to calculate an effect size and confidence interval. The pooled effect size of 2.0759 (95 % CI 0.0988 to 4.0529) indicates that oxandrolone has a positive effect on adult height in Turner syndrome when combined with growth hormone therapy. In conclusion, the addition of oxandrolone to growth hormone therapy for treatment of short stature in Turner syndrome improves adult height. Further studies are warranted to investigate if there is a subset of Turner syndrome patients that would benefit most from growth hormone plus oxandrolone therapy, and to determine the optimal timing and duration of such therapy.

[Rapidly progressive puberty in a patient with mosaic Turner syndrome: a case report and literature review].

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Liang, Y; Wei, H; Yu, X; Huang, W; Luo, X P

2017-02-02

Objective: To explore the clinical characteristics of diagnosis and treatment in patients with Turner syndrome and rapidly progressive puberty. Method: A rare case of rapidly progressive puberty in Turner syndrome with a mosaic karyotype of 45, X/46, X, del(X)(p21)(80%/20%)was diagnosed at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in January. 2015. Clinical characteristics and the related literature were reviewed. Original papers on precocious puberty or rapidly progressive puberty in Turner syndrome, published until Apr. 2016 were retrieved at PubMed and CNKI databases by the use of the key words "Turner syndrome" , "precocious puberty" and "rapidly progressive puberty" . Result: The patient was born at term with birth weight of 2 450 g and was diagnosed with SGA at 3 years of age for the first evaluating of growth and development. Then recombined human growth hormone (rhGH )was given at 4 years of age due to short stature (heightTurner syndrome is reported. Although short stature and ovarian dysgenesis are common in TS, precocious puberty may occur in TS, which is liable to cause delayed diagnosis and misdiagnosis. Careful examination is recommended for patients with unusual growth pattern, even though girls have normal height in accord with standard growth curve or spontaneous puberty. Evaluation for TS and subsequent investigation should be prompted.

A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.

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Kalkan, Rasime; Özdağ, Nermin; Bundak, Rüveyde; Çirakoğlu, Ayşe; Serakinci, Nedime

2016-01-01

Patients with Turner syndrome are generally characterized by having short stature with no secondary sexual characteristics. Some abnormalities, such as webbed neck, renal malformations (>50%) and cardiac defects (10%) are less common. The intelligence of these patients is considered normal. Non-mosaic monosomy X is observed in approximately 45% of postnatal patients with Turner syndrome and the rest of the patients have structural abnormalities or mosaicism involving 46,X,i(Xq), 45,X/46,XX, 45,X and other variants. The phenotype of 45,X/46,X,+mar individuals varies by the genetic continent and degree of the mosaicism. The gene content of the marker chromosome is the most important when correlating the phenotype with the genotype. Here we present an 11-year-old female who was referred for evaluation of her short stature and learning disabilities. Conventional cytogenetic investigation showed a mosaic 45,X/46,X,+mar karyotype. Fluorescence in situ hybridization showed that the marker chromosome originated from the X chromosome within the androgen receptor (AR) and X-inactive specific transcript (XIST) genes. Therefore, it is possible that aberrant activation of the marker chromosome, compromising the AR and XIST genes, may modify the Turner syndrome phenotype.

Hearing loss among patients with Turner's syndrome: literature review

Directory of Open Access Journals (Sweden)

Cresio Alves

2014-06-01

Full Text Available INTRODUCTION: Turner's syndrome (TS is caused by a partial or total deletion of an X chromosome, occurring in 1:2,000 to 1:5,000 live born females. Hearing loss is one of its major clinical manifestations. However, there are few studies investigating this problem. OBJECTIVES: To review the current knowledge regarding the epidemiology, etiology, clinical manifestations and diagnosis of hearing impairment in patients with TS. METHODS: A bibliographic search was performed in the Medline and Lilacs databanks (1980-2012 to identify the main papers associating Turner's syndrome, hearing impairment and its clinical outcomes. CONCLUSIONS: Recurrent otitis media, dysfunction of the Eustachian tube, conductive hearing loss during infancy and sensorineural hearing loss in adolescence are the audiologic disorders more common in ST. The karyotype appears to be important in the hearing loss, with studies demonstrating an increased prevalence in patients with monosomy 45,X or isochromosome 46,i(Xq. Morphologic studies of the cochlea are necessary to help out in the clarifying the etiology of the sensorineural hearing loss.

What Are the Symptoms of Turner Syndrome?

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... Pinterest Email Print What are the symptoms of Turner syndrome? Turner syndrome causes a variety of symptoms in girls and ... some people, symptoms are mild, but for others, Turner syndrome can cause serious health problems. In general, women ...

Identification of Y-Chromosome Sequences in Turner Syndrome.

Science.gov (United States)

Silva-Grecco, Roseane Lopes da; Trovó-Marqui, Alessandra Bernadete; Sousa, Tiago Alves de; Croce, Lilian Da; Balarin, Marly Aparecida Spadotto

2016-05-01

To investigate the presence of Y-chromosome sequences and determine their frequency in patients with Turner syndrome. The study included 23 patients with Turner syndrome from Brazil, who gave written informed consent for participating in the study. Cytogenetic analyses were performed in peripheral blood lymphocytes, with 100 metaphases per patient. Genomic DNA was also extracted from peripheral blood lymphocytes, and gene sequences DYZ1, DYZ3, ZFY and SRY were amplified by Polymerase Chain Reaction. The cytogenetic analysis showed a 45,X karyotype in 9 patients (39.2 %) and a mosaic pattern in 14 (60.8 %). In 8.7 % (2 out of 23) of the patients, Y-chromosome sequences were found. This prevalence is very similar to those reported previously. The initial karyotype analysis of these patients did not reveal Y-chromosome material, but they were found positive for Y-specific sequences in the lymphocyte DNA analysis. The PCR technique showed that 2 (8.7 %) of the patients with Turner syndrome had Y-chromosome sequences, both presenting marker chromosomes on cytogenetic analysis.

Coexistence of Mayer-Rokitansky-Küster-Hauser Syndrome and Turner Syndrome: A Case Report.

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Białka, Agnieszka; Gawlik, Aneta; Drosdzol-Cop, Agnieszka; Wilk, Krzysztof; Małecka-Tendera, Ewa; Skrzypulec-Plinta, Violetta

2016-04-01

Turner syndrome is a common chromosomal disorder, with an incidence of 1 in 2000 live-born female infants. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis. A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy. At the age of 24 years, just after the patient's sexual initiation, the first complete gynecological examination was performed. A blind-ending vagina was revealed and the patient was diagnosed with MRKH. Early diagnosis of coexistence of MRKH and Turner syndrome, although very difficult, might prevent patients from developing serious complications. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

A percepção da doença em portadoras da síndrome de Turner Turner syndrome: the patients' view

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Lígia Z. C. Suzigan

2004-08-01

Full Text Available OBJETIVO: Identificar a percepção das pacientes com síndrome de Turner a respeito de sua condição. CASUÍSTICA E MÉTODO: Entrevistas individuais com 36 pacientes com síndrome de Turner entre 15 e 25 anos e mais de 2 anos de acompanhamento, abordando temas referentes ao impacto no momento do diagnóstico, compreensão a respeito da síndrome de Turner, seu impacto sobre a vida atual e expectativas de futuro. RESULTADOS: Apenas 31% compreenderam o diagnóstico de síndrome de Turner imediatamente, e o sentimento associado a esse momento foi freqüentemente neutro (47% ou de preocupação (33%. Cerca de 1/3 das pacientes não soube explicar a etiologia da síndrome de Turner (42%, não relacionou a ela os sintomas que apresenta (36% e/ou acredita haver cura (44%. Atualmente, embora a grande maioria declare que a síndrome de Turner não interfere em sua vida (67% e se considere feliz (78%, em mais da metade dos casos há evidências de dificuldades de interação social e de relacionamento amoroso, baixa auto-estima, insatisfação com a aparência física (em particular a baixa estatura e sofrimento com a questão da esterilidade. Suas expectativas de futuro estão predominantemente ligadas a trabalho e estudo; e mesmo estando com 19 anos, em média, uma em cada duas ainda espera crescer (53%. CONCLUSÃO: Além da abordagem médica da síndrome de Turner, é fundamental que o conhecimento das pacientes a respeito dessa síndrome e as questões referentes à esterilidade, baixa estatura, auto-estima e interações sociais sejam alvo de atenção especial e contínua a partir do momento do diagnóstico; a situação ideal seria a de atuação de um psicólogo juntamente com a equipe médica.OBJECTIVE: To identify how patients with Turner syndrome perceive their condition. METHODS: Thirty-six women with Turner syndrome, aged between 15 and 25 years and with over 2 years of medical follow-up, were individually interviewed about: the impact of

Growth hormone positive effects on craniofacial complex in Turner syndrome.

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Juloski, Jovana; Dumančić, Jelena; Šćepan, Ivana; Lauc, Tomislav; Milašin, Jelena; Kaić, Zvonimir; Dumić, Miroslav; Babić, Marko

2016-11-01

Turner syndrome occurs in phenotypic females with complete or partial absence of X chromosome. The leading symptom is short stature, while numerous but mild stigmata manifest in the craniofacial region. These patients are commonly treated with growth hormone to improve their final height. The aim of this study was to assess the influence of long-term growth hormone therapy on craniofacial morphology in Turner syndrome patients. In this cross-sectional study cephalometric analysis was performed on 13 lateral cephalograms of patients with 45,X karyotype and the average age of 17.3 years, who have received growth hormone for at least two years. The control group consisted of 13 Turner syndrome patients naive to growth hormone treatment, matched to study group by age and karyotype. Sixteen linear and angular measurements were obtained from standard lateral cephalograms. Standard deviation scores were calculated in order to evaluate influence of growth hormone therapy on craniofacial components. In Turner syndrome patients treated with growth hormone most of linear measurements were significantly larger compared to untreated patients. Growth hormone therapy mainly influenced posterior face height, mandibular ramus height, total mandibular length, anterior face height and maxillary length. While the increase in linear measurements was evident, angular measurements and facial height ratio did not show statistically significant difference. Acromegalic features were not found. Long-term growth hormone therapy has positive influence on craniofacial development in Turner syndrome patients, with the greatest impact on posterior facial height and mandibular ramus. However, it could not compensate X chromosome deficiency and normalize craniofacial features. Copyright © 2016 Elsevier Ltd. All rights reserved.

Cardiovascular risk in Turner syndrome.

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Donato, Beatriz; Ferreira, Maria João

2018-06-01

Turner syndrome is a relatively common genetic disorder of female development, characterized by partial or complete absence of an X chromosome, with a variable clinical presentation. Congenital or acquired cardiovascular disease is highly prevalent and a major cause of early death in this syndrome. The most feared complication is aortic dissection, which can occur at a very young age and requires careful assessment of its risk factors. A systematic literature search identified sixty relevant publications. These were reviewed with regard to the increased risk of cardiovascular disease in women with Turner syndrome, especially in pregnancy. The most common congenital cardiovascular defects are presented and illustrated with appropriate iconography. The current recommendations regarding the screening and monitoring of cardiovascular disease in these patients are discussed. Copyright © 2018 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

Concurrent Van der Woude syndrome and Turner syndrome: A case report.

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Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

2017-01-01

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

Chromosomal sensitivity to X-rays in lymphocytes from patients with Turner syndrome

International Nuclear Information System (INIS)

Heras, J.G.; Coco, R.

1986-01-01

Lymphocytes from patients with Turner syndrome were irradiated with X-rays to determine the chromosomal aberration frequency in first-division metaphases. Five patients with 45,X karyotype; three 45,X/46,Xi(X)q mosaics; one 45,X/47,XXX mosaic and 9 female controls were studied. Patients with a 45,X karyotype exhibited a radioinduced chromosomal aberration frequency similar to controls. In the mosaics, 45,X cells has a mean frequency of 38.75 +- 2.16; 46,Xi(X)q cells a mean of 38 +- 2.16 and the control group a rate of 36.25 +- 4.32. No differences were observed between 45,X and 46,Xi(X)q cells, 45,X and normal cells or 46,Xi(X)q and normal cells. Apparently neither the X monosomy nor the Xq isochromosome influences the 'in vitro' X-ray-induced chromosomal damage in Turner syndrome lymphocytes. (Auth.)

Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study).

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Bucerzan, Simona; Miclea, Diana; Popp, Radu; Alkhzouz, Camelia; Lazea, Cecilia; Pop, Ioan Victor; Grigorescu-Sido, Paula

2017-01-01

Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria. Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH)-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences. We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children's Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences. The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations ( r =0.45), particularly the cardiovascular ones ( r =0.44). Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y chromosome sequences were found in only one patient, who subsequently underwent gonadectomy. The importance of this study resides, to the best of our knowledge, in the fact that the largest group of patients in Romania was analyzed and assessed. To draw firm conclusions on the most valuable clinical indicators for Turner syndrome diagnosis in clinical practice, studies on large groups of patients should be

GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial.

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Blum, Werner F; Ross, Judith L; Zimmermann, Alan G; Quigley, Charmian A; Child, Christopher J; Kalifa, Gabriel; Deal, Cheri; Drop, Stenvert L S; Rappold, Gudrun; Cutler, Gordon B

2013-08-01

Growth impairment in short stature homeobox-containing gene (SHOX) deficiency and Turner syndrome share a similar etiology. Because of the established effect of GH treatment on height in patients with Turner syndrome, we hypothesized that GH therapy would also stimulate growth in patients with SHOX deficiency. Our objectives were to evaluate long-term efficacy of GH treatment in short patients with SHOX deficiency and to compare the effect on final (adult) height (FH) in patients with SHOX deficiency and Turner syndrome. A prospective, multinational, open-label, randomized 3-arm study consisting of a 2-year control period and a subsequent extension period to FH. The treatment groups were 1) SHOX-D-C/GH (untreated during the control period, GH-treated during the extension), 2) SHOX-D-GH/GH, and 3) Turner-GH/GH (GH-treated during both study periods). Short-statured prepubertal patients with genetically confirmed SHOX deficiency (n = 49) or Turner syndrome (n = 24) who participated in the extension. Depending on the study arm, patients received a daily sc injection of 0.05 mg/kg recombinant human GH from start of the study or start of the extension until attainment of FH or study closure. Height SD score gain from start of GH treatment to FH was similar between the combined SHOX-deficient groups (n = 28, 1.34 ± 0.18 [least-squares mean ± SE]) and the Turner group (n = 19, 1.32 ± 0.22). In this FH population, 57% of the patients with SHOX deficiency and 32% of the patients with Turner syndrome achieved a FH greater than -2 SD score. GH treatment in short children with SHOX deficiency showed similar long-term efficacy as seen in girls with Turner syndrome.

Partial anomalous pulmonary venous return in Turner syndrome.

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van den Hoven, Allard T; Chelu, Raluca G; Duijnhouwer, Anthonie L; Demulier, Laurent; Devos, Daniel; Nieman, Koen; Witsenburg, Maarten; van den Bosch, Annemien E; Loeys, Bart L; van Hagen, Iris M; Roos-Hesselink, Jolien W

2017-10-01

The aim of this study is to describe the prevalence, anatomy, associations and clinical impact of partial anomalous pulmonary venous return in patients with Turner syndrome. All Turner patients who presented at our Turner clinic, between January 2007 and October 2015 were included in this study and underwent ECG, echocardiography and advanced imaging such as cardiac magnetic resonance or computed tomography as part of their regular clinical workup. All imaging was re-evaluated and detailed anatomy was described. Partial anomalous pulmonary venous return was diagnosed in 24 (25%) out of 96 Turner patients included and 14 (58%) of these 24 partial anomalous pulmonary venous return had not been reported previously. Right atrial or ventricular dilatation was present in 11 (46%) of 24 partial anomalous pulmonary venous return patients. When studied with advanced imaging modalities and looked for with specific attention, PAPVR is found in 1 out of 4 Turner patients. Half of these patients had right atrial and/or ventricular dilatation. Evaluation of pulmonary venous return should be included in the standard protocol in all Turner patients. Copyright © 2017. Published by Elsevier B.V.

Turner Syndrome

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... Failure to begin sexual changes expected during puberty Sexual development that "stalls" during teenage years Early end to menstrual cycles not due to pregnancy For most women with Turner syndrome, inability to ...

Reproductive Issues in Women with Turner Syndrome.

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Folsom, Lisal J; Fuqua, John S

2015-12-01

Turner syndrome is one of the most common chromosomal abnormalities affecting female infants. The severity of clinical manifestations varies and it affects multiple organ systems. Women with Turner syndrome have a 3-fold increase in mortality, which becomes even more pronounced in pregnancy. Reproductive options include adoption or surrogacy, assisted reproductive techniques, and in rare cases spontaneous pregnancy. Risks for women with Turner syndrome during pregnancy include aortic disorders, hepatic disease, thyroid disease, type 2 diabetes, and cesarean section delivery. Providers must be familiar with the risks and recommendations in caring for women with Turner syndrome of reproductive age. Copyright © 2015 Elsevier Inc. All rights reserved.

Chromosomal sensitivity to X-rays in lymphocytes from patients with Turner syndrome

Energy Technology Data Exchange (ETDEWEB)

Heras, J G; Coco, R

1986-03-01

Lymphocytes from patients with Turner syndrome were irradiated with X-rays to determine the chromosomal aberration frequency in first-division metaphases. Five patients with 45,X karyotype; three 45,X/46,Xi(X)q mosaics; one 45,X/47,XXX mosaic and 9 female controls were studied. Patients with a 45,X karyotype exhibited a radioinduced chromosomal aberration frequency similar to controls. In the mosaics, 45,X cells has a mean frequency of 38.75 +- 2.16; 46,Xi(X)q cells a mean of 38 +- 2.16 and the control group a rate of 36.25 +- 4.32. No differences were observed between 45,X and 46,Xi(X)q cells, 45,X and normal cells or 46,Xi(X)q and normal cells. Apparently neither the X monosomy nor the Xq isochromosome influences the in vitro X-ray-induced chromosomal damage in Turner syndrome lymphocytes. (Auth.). 29 references, 4 tables.

Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study

Directory of Open Access Journals (Sweden)

Bucerzan S

2017-05-01

Full Text Available Simona Bucerzan,1 Diana Miclea,1,2 Radu Popp,2 Camelia Alkhzouz,1 Cecilia Lazea,1 Ioan Victor Pop,2 Paula Grigorescu-Sido1 1Emergency Hospital for Children, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania; 2Department of Molecular Sciences, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania Introduction: Recent years have seen a shift in perspective on Turner syndrome, as it is no longer considered a significant disability due to therapeutic advances. The delay of diagnosis and the underdiagnosis are common in Turner syndrome, especially because of the great phenotypic variability and lack of firm diagnostic criteria.Aim: Our first aim was to assess the clinical and the cytogenetic characteristics and growth rate in growth hormone (GH-treated patients as compared to those with spontaneous growth. The second aim was to analyze the Y chromosomal sequences.Materials and methods: We analyzed 45 patients diagnosed with Turner syndrome in Genetic Pathology Centre of Cluj Emergency Children’s Hospital. We carried out a study of the clinical features, the correlations between the karyotype and the phenotype, and we also made a research of Y chromosome sequences.Results: The average age at diagnosis was 8.9±5.4 years. A significant association was observed between the number of external phenotypical abnormalities and internal malformations (r=0.45, particularly the cardiovascular ones (r=0.44. Patients treated with GH showed improvement in growth rate, with final stature significantly better than in untreated patients; benefits following treatment were greater if diagnosis was made before the age of 5 years. Thirteen percent of patients experienced spontaneous and complete puberty, whereas 30% experienced incomplete puberty. Patients with the 45,X genotype had a greater stature deficit and a higher incidence of cardiac malformations, compared with patients with 45,X/46,XX mosaic karyotype. Y

Aortic dilatation in Turner syndrome: the role of MRI in early recognition

International Nuclear Information System (INIS)

Chalard, Francois; Ferey, Solene; Kalifa, Gabriel; Teinturier, Cecile

2005-01-01

Aortic dilatation and dissection are rare but important complications of Turner syndrome that increase the risk of sudden death in young patients. To assess the value of aortic MRI in patients with Turner syndrome; in particular to demonstrate early aortic dilatation. A total of 21 patients with Turner syndrome underwent MRI of the thoracic aorta with measurement of vessel diameter at four levels. Measurements were normal for age in 15 cases, two patients presented with values at the upper limit of normal and four had obvious dilatation of the ascending aorta. All were symptom free. MRI allows the non-invasive demonstration of early aortic dilatation, which may lead to earlier surgery in asymptomatic individuals. (orig.)

Aortic dilatation in Turner syndrome: the role of MRI in early recognition

Energy Technology Data Exchange (ETDEWEB)

Chalard, Francois; Ferey, Solene; Kalifa, Gabriel [Saint Vincent de Paul Hospital, Department of Paediatric Radiology, Paris Cedex 14 (France); Teinturier, Cecile [Saint Vincent de Paul Hospital, Department of Paediatric Endocrinology, Paris (France)

2005-03-01

Aortic dilatation and dissection are rare but important complications of Turner syndrome that increase the risk of sudden death in young patients. To assess the value of aortic MRI in patients with Turner syndrome; in particular to demonstrate early aortic dilatation. A total of 21 patients with Turner syndrome underwent MRI of the thoracic aorta with measurement of vessel diameter at four levels. Measurements were normal for age in 15 cases, two patients presented with values at the upper limit of normal and four had obvious dilatation of the ascending aorta. All were symptom free. MRI allows the non-invasive demonstration of early aortic dilatation, which may lead to earlier surgery in asymptomatic individuals. (orig.)

Aortic dilatation in Turner syndrome: the role of MRI in early recognition.

Science.gov (United States)

Chalard, François; Ferey, Solène; Teinturier, Cécile; Kalifa, Gabriel

2005-03-01

Aortic dilatation and dissection are rare but important complications of Turner syndrome that increase the risk of sudden death in young patients. To assess the value of aortic MRI in patients with Turner syndrome; in particular to demonstrate early aortic dilatation. A total of 21 patients with Turner syndrome underwent MRI of the thoracic aorta with measurement of vessel diameter at four levels. Measurements were normal for age in 15 cases, two patients presented with values at the upper limit of normal and four had obvious dilatation of the ascending aorta. All were symptom free. MRI allows the non-invasive demonstration of early aortic dilatation, which may lead to earlier surgery in asymptomatic individuals.

Turner syndrome: From birth to adulthood.

Science.gov (United States)

Ríos Orbañanos, Isabel; Vela Desojo, Amaia; Martinez-Indart, Lorea; Grau Bolado, Gema; Rodriguez Estevez, Amaya; Rica Echevarria, Itxaso

2015-12-01

Turner syndrome is characterized by a great variability of clinical manifestations caused by a total or partial loss of X-chromosome. A retrospective, descriptive study of the diagnosis, course, and current status of patients with Turner syndrome followed up at our section over the past 40 years, based on review of medical records supplemented with a telephone survey. Forty-five female patients with a current mean age of 22.95years (range 2-38) and a mean age at diagnosis of 4.71 were included. Sixty-three percent of them showed a mosaic karyotype. Short stature was the most common reason for consultation (54%), with increased prenatal diagnosis in most recent cases. Seventy-two percent have been treated with growth hormone, together with oxandrolone in 26%. Final stature was short in 69% of patients. Gonadal failure was found in 66%; most of whom received replacement therapy. Three patients achieved pregnancy by oocyte donation. The 31 adult patients are mainly monitored by the endocrinology (37.5%) and/or gynecology (34.4%) departments. As regards psychosocial aspects, 22% required support during school, and 80% completed middle to high level education. Two patients died, one due to dissecting aortic aneurysm and the other one, who had multiple pathological conditions, from respiratory failure. Short stature is the main cause of diagnosis in patients with Turner syndrome; most cases show genetic mosaicism. The most common clinical manifestations include short stature and gonadal failure. Eighty percent of patients complete middle or high education. In adulthood, follow-up is irregular, sometimes scarce, and clearly improvable. Copyright © 2015 SEEN. Published by Elsevier España, S.L.U. All rights reserved.

Turner Syndrome

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... crowding, and osteoporosis (brittle bones). Because of their physical conditions, health concerns, and infertility, some girls and women with TS may have low self- esteem, anxiety, or depression. How is Turner syndrome diagnosed? Physical features may ...

New insights on diabetes in Turner syndrome: results from an observational study in adulthood.

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Ibarra-Gasparini, Daniela; Altieri, Paola; Scarano, Emanuela; Perri, Annamaria; Morselli-Labate, Antonio M; Pagotto, Uberto; Mazzanti, Laura; Pasquali, Renato; Gambineri, Alessandra

2018-03-01

To explore the characteristics of diabetes mellitus in adults with Turner syndrome. Observational study consisting of a prospective phase after the access of adults with Turner syndrome to the Endocrinology Unit (median period of follow-up 15.6, interquartile range: 12.0-24.5 months) and a retrospective collection of data from the diagnosis of Turner syndrome until the time of access to the Endocrinology Unit. A total of 113 Italian Turner syndrome patients were included in the study. During the prospective phase of the study, each patient underwent physical examination, fasting blood sampling, and an oral glucose tolerance test on a yearly basis. Oral glucose tolerance test was used to perform the diagnosis of diabetes mellitus. Before access to the Endocrinology Unit, diabetes mellitus was diagnosed in two Turner syndrome patients. Another five cases of diabetes mellitus were diagnosed at the first access to the Endocrinology Unit, whereas seven new cases of diabetes mellitus were diagnosed during the prospective phase of the study. At the diagnosis of diabetes mellitus, only one patient had fasting glucose above 126 mg/dL, and only two had an HbA1c value >6.5% (48 mmol/mol). When compared to normo-glucose tolerant patients, the diabetic patients had a significantly lower insulin-to-glucose ratio at 30 and 60 min of the oral glucose tolerance test. In the regression analyses, only age was associated with the development of diabetes mellitus. This study confirms that diabetes mellitus is frequent in Turner syndrome and suggests that it is specific to the syndrome. In addition, this study demonstrates that oral glucose tolerance test is a more sensitive test than HbA1c for the diagnosis of diabetes mellitus in Turner syndrome.

Evidence of a normal mean telomere fragment length in patients with Ullrich-Turner syndrome

DEFF Research Database (Denmark)

Kveiborg, Marie; Gravholt, Claus Højbjerg; Kassem, M

2001-01-01

Clinical and epidemiological studies suggest that premature ageing and increased morbidity and mortality is present in Ullrich-Turner syndrome. We studied telomere restriction fragment length (TRFL) in 30 women with Ullrich-Turner syndrome and 30 age-matched control women. All Turner women had...... the 45,X karyotype verified by karyotyping. We found no difference in the mean TRFL in the young age group (TS: 7011+/-521 vs C: 7285+/-917 bp, P = 0.3), or in the older age group (TS: 7357+/-573 vs C: 7221+/-621 bp, P = 0.6). In conclusion, our data suggest that Ullrich-Turner syndrome is not associated...... with excessive telomere loss, at least when studied in peripheral blood leucocytes, and thus quite different from other premature ageing syndromes....

Mechanisms of Lethal Cerebrovascular Accidents in Turner Syndrome.

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Byard, Roger W

2016-05-01

A case of intracerebral hemorrhage in Turner syndrome is reported with an analysis of possible causes of cerebrovascular accidents in this condition. A 42-year-old woman with known Turner syndrome died soon after hospital admission having been found unconscious at her home address. At autopsy, she showed typical features of Turner syndrome with short stature, webbing of the neck, underdeveloped breasts, and an increased carrying angle of the arm. Death was due to a large left-sided intracerebral hemorrhage extending from the left basal ganglia into the white matter of the frontal lobe and lateral ventricle. Cases of unexpected death in Turner syndrome may arise from occult cerebrovascular accidents which may be hemorrhagic or nonhemorrhagic. Associated features include hypertension, vascular malformations, accelerated atherogenesis, cystic medial necrosis, and moyamoya syndrome. The possibility of Turner syndrome should be considered in cases where there has been a lethal cerebrovascular event in a younger woman. © 2016 American Academy of Forensic Sciences.

Whole Body Magnetic Resonance Imaging in the Diagnosis of Parsonage Turner Syndrome

International Nuclear Information System (INIS)

Ryan, M.; Twair, A.; Nelson, E.; Brennan, D.; Eustace, S.

2004-01-01

Purpose: To describe magnetic resonance imaging (MRI) findings in patients with suspected Parsonage Turner syndrome and to emphasize the value of an additional whole body MR scan to improve specificity of this diagnosis. Material and Methods: Three patients with proven Parsonage Turner syndrome referred for conventional MRI of the shoulder girdle and additional whole body turboSTIR MRI were included for study. Results: In each case, imaging revealed edema in the muscles of the shoulder girdle. Whole body turboSTIR MRI scan confirmed localized unilateral changes in each case improving specificity and confidence in the diagnosis of Parsonage Turner syndrome in each case. Conclusion: Whole body turboSTIR MR imaging is a useful diagnostic tool in the evaluation of patients with suspected Parsonage Turner syndrome. Inclusion of the brain, neck, brachial plexus, and extremity musculature at whole body imaging allows differentiation from polymyositis and elimination of additional causes of shoulder girdle pain and weakness including gross lesions in the brain, neck, and brachial plexus by a single non-invasive study

Arterial hypertension in Turner syndrome: a review of the literature and a practical approach for diagnosis and treatment.

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De Groote, Katya; Demulier, Laurent; De Backer, Julie; De Wolf, Daniel; De Schepper, Jean; Tʼsjoen, Guy; De Backer, Tine

2015-07-01

Turner syndrome is a rare chromosomal disorder with complete or partial absence of one X chromosome that only occurs in women. Clinical presentation is variable, but congenital and acquired cardiovascular diseases are frequently associated diseases that add significantly to the increased morbidity and mortality in Turner syndrome patients. Arterial hypertension is reported in 13-58% of adult Turner syndrome patients and confers an increased risk for stroke and aortic dissection. Hypertension can be present from childhood on and is reported in one-quarter of the paediatric Turner syndrome patients. This article reviews the prevalence and cause of arterial hypertension in Turner syndrome and describes the relationship between blood pressure, aortic dilation and increased cardiovascular risk. We compare current treatment strategies and also propose an integrated practical approach for the diagnosis and treatment of hypertension in Turner syndrome applicable in daily practice.

Laparoscopic Removal of Streak Gonads in Turner Syndrome.

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Mandelberger, Adrienne; Mathews, Shyama; Andikyan, Vaagn; Chuang, Linus

To demonstrate the skills necessary for complete resection of bilateral streak gonads in Turner syndrome. Video case presentation with narration highlighting the key techniques used. The video was deemed exempt from formal review by our institutional review board. Turner syndrome is a form of gonadal dysgenesis that affects 1 in 2500 live births. Patients often have streak gonads and may present with primary amenorrhea or premature ovarian failure. Patients with a mosaic karyotype that includes a Y chromosome are at increased risk for gonadoblastoma and subsequent transformation into malignancy. Gonadectomy is recommended for these patients, typically at adolescence. Streak gonads can be difficult to identify, and tissue margins are often in close proximity to critical retroperitoneal structures. Resection can be technically challenging and requires a thorough understanding of retroperitoneal anatomy and precise dissection techniques to ensure complete removal. Laparoscopic approach to bilateral salpingo-oophorectomy of streak gonads. Retroperitoneal dissection and ureterolysis are performed, with the aid of the Ethicon Harmonic Ace, to ensure complete gonadectomy. Careful and complete resection of gonadal tissue in the hands of a skilled laparoscopic surgeon is key for effective cancer risk reduction surgery in Turner syndrome mosaics. Copyright © 2016 AAGL. Published by Elsevier Inc. All rights reserved.

Aortopathies in Turner syndrome -- new strategies for evaluation and treatment.

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Kriksciuniene, Ruta; Ostrauskas, Rytas; Zilaitiene, Birute

2015-01-01

Turner syndrome is a rare genetic disorder which impairs women's growth, reproductive function, cardiovascular development and other functions. This syndrome has been proposed as an independent risk marker for cardiovascular disease. Despite this, life-threatening cardiovascular outcomes affecting young women are dismissed because of incomplete follow up. During assessment due to their smaller stature, it should be noted that, although the ascending aorta diameter is normal in absolute terms, after indexation for body size, patients with Turner syndrome may have a dilated aorta.Based on recent guidelines and the latest studies, there is new evidence on the use of magnetic resonance imaging in diagnosing aortic lesions. New management possibilities of aortopathies have also been discussed. This approach should optimise medical care for women with Turner syndrome, but many areas of uncertainty still remain in the diagnosis and management of this syndrome, and new prospective studies are needed.

A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

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Roberto L. P. Mazzaschi

2014-01-01

Full Text Available A skin sample from a 17-year-old female was received for routine karyotyping with a set of clinical features including clonic seizures, cardiomyopathy, hepatic adenomas, and skeletal dysplasia. Conventional karyotyping revealed a mosaic Turner syndrome karyotype with a cell line containing a small marker of X chromosome origin. This was later confirmed on peripheral blood cultures by conventional G-banding, fluorescence in situ hybridisation and microarray analysis. Similar Turner mosaic marker chromosome cases have been previously reported in the literature, with a variable phenotype ranging from the mild “classic” Turner syndrome to anencephaly, agenesis of the corpus callosum, complex heart malformation, and syndactyly of the fingers and toes. This case report has a phenotype that is largely discordant with previously published cases as it lies at the severe end of the Turner variant phenotype scale. The observed cytogenetic abnormalities in this study may represent a coincidental finding, but we cannot exclude the possibility that the marker has a nonfunctioning X chromosome inactivation locus, leading to functional disomy of those genes carried by the marker.

GH treatment to final height produces similar height gains in patients with SHOX deficiency and turner syndrome: Results of a multicenter trial

NARCIS (Netherlands)

W.F. Blum (Werner); J.L. Ross (J.); A.G. Zimmermann (Alan); C.A. Quigley (Charmian); C.J. Child (Christopher); G. Kalifa (Gabriel); C.L. Deal (Cheri Lynn); S.L.S. Drop (Stenvert); G. Rappold (G.); G. Cutler (Gordon)

2013-01-01

textabstractContext: Growth impairment in short stature homeobox-containing gene (SHOX) deficiency and Turner syndrome share a similar etiology. Because of the established effect of GH treatment on height in patients with Turner syndrome, we hypothesized that GH therapy would also stimulate growth

Disproportional geometry of the proximal femur in patients with Turner syndrome - a cross-sectional study

DEFF Research Database (Denmark)

Nissen, N.; Gravholt, Claus Højbjerg; Abrahamsen, Bo

2007-01-01

OBJECTIVE: Patients with Turner syndrome (TS) have altered growth and increased risk of osteoporosis due to oestrogen deficiency and possibly a host of other factors. Thus, TS patients have a 4.9-fold increased risk of femoral neck fractures. Most patients are treated with oestrogen during puberty...

Nailfold video capillaroscopy in Turner syndrome: a descriptive study Videocapilaroscopia na síndrome de Turner: estudo descritivo

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Simone C. S. Coelho

2007-12-01

Full Text Available BACKGROUND: An increased prevalence of impaired glucose homeostasis is reported in Turner syndrome. Endothelial changes are described in patients with insulin resistance, which may be present in patients with Turner syndrome. Video capillaroscopy is a noninvasive examination that allows assessment of vascular patency. OBJECTIVE: To describe the nailfold morphology of capillaries in Turner syndrome using video capillaroscopy. METHODS: Subjects were studied in a temperature-controlled room, 20 days after no nailfold manipulations. The capillaries were visualized by microscope connected to a television and computer and were studied and classified according to these patterns: loop distribution, papilla, avascular fields, edema, form, capillary limbs, flow and hemorrhagic extravasation. RESULTS: Fifty patients aged between 6-37 years with Turner syndrome were studied. Eighteen (36% patients had normal capillaroscopy with hairpin pattern in loop distribution and no avascular fields. The papilla was ratified in 13 (26% and enlarged in four (8%. Edema occurred in 22 (44% cases. There were three (6% macrocapillaries and three (6% were branched. Tortuosity was present in five (10% patients. Hemorrhagic extravasation occurred in one (2% case. Flow was fast in seven (14%, granulous in five (10% and slow in six (12%. CONCLUSION: There was a high prevalence of nailfold capillaroscopy changes in Turner syndrome and the most prevalent alterations found were edema and ratified papilla.CONTEXTO: Estudos evidenciam distúrbios no metabolismo da glicose na síndrome de Turner. As alterações no endotélio estão descritas em pacientes com resistência insulínica, que pode ocorrer em pacientes com síndrome de Turner, e o estudo dos capilares pela videocapilaroscopia é um exame não-invasivo que permite avaliação da permeabilidade vascular. OBJETIVO: Descrever a morfologia dos capilares na síndrome de Turner usando a videocapilaroscopia. MÉTODO: As pacientes

Sex hormone replacement in Turner syndrome

DEFF Research Database (Denmark)

Trolle, Christian; Hjerrild, Britta; Cleemann, Line Hartvig

2012-01-01

The cardinal features of Turner syndrome (TS) are short stature, congenital abnormalities, infertility due to gonadal dysgenesis, with sex hormone insufficiency ensuing from premature ovarian failure, which is involved in lack of proper development of secondary sex characteristics and the frequent...... osteoporosis seen in Turner syndrome. But sex hormone insufficiency is also involved in the increased cardiovascular risk, state of physical fitness, insulin resistance, body composition, and may play a role in the increased incidence of autoimmunity. Severe morbidity and mortality affects females with Turner...... syndrome. Recent research emphasizes the need for proper sex hormone replacement therapy (HRT) during the entire lifespan of females with TS and new hypotheses concerning estrogen receptors, genetics and the timing of HRT offers valuable new information. In this review, we will discuss the effects...

Recurrent Vocal Fold Paralysis and Parsonage-Turner Syndrome

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Marcus Vinicius Pinto

2013-01-01

Full Text Available Background. Parsonage-Turner syndrome, or neuralgic amyotrophy (NA, is an acute brachial plexus neuritis that typically presents with unilateral shoulder pain and amyotrophy but also can affect other peripheral nerves, including the recurrent laryngeal nerve. Idiopathic vocal fold paralysis (VFP represents approximately 12% of the VFP cases and recurrence is extremely rare. Methods and Results. We report a man with isolated recurrent unilateral right VFP and a diagnosis of NA years before. Conclusions. We emphasize that shoulder pain and amyotrophy should be inquired in any patient suffering from inexplicable dysphonia, and Parsonage-Turner syndrome should be considered in the differential diagnosis of idiopathic VFP.

How Do Health Care Providers Diagnose Turner Syndrome?

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... Email Print How do health care providers diagnose Turner syndrome? Health care providers use a combination of physical ... the X chromosomes is partially or completely missing. Turner syndrome also can be diagnosed during pregnancy by testing ...

Response to three years of growth hormone therapy in girls with Turner syndrome

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Hong Kyu Park

2013-03-01

Full Text Available PurposeShort stature is the most common finding in patients with Turner syndrome. Improving the final adult height in these patients is a challenge both for the patients and physicians. We investigated the clinical response of patients to growth hormone treatment for height improvement over the period of three years.MethodsReview of medical records from 27 patients with Turner syndrome treated with recombinant human growth hormone for more than 3 years was done. Differences in the changes of height standard deviation scores according to karyotype were measured and factors influencing the height changes were analyzed.ResultsThe response to recombinant human growth hormone was an increase in the height of the subjects to a mean value of 1.1 standard deviation for subjects with Turner syndrome at the end of the 3-year treatment. The height increment in the first year was highest. The height standard deviation score in the third year was negatively correlated with the age at the beginning of the recombinant human growth hormone treatment. Different karyotypes in subjects did not seem to affect the height changes.ConclusionEarly growth hormone administration in subjects with Turner syndrome is helpful to improve height response to the treatment.

Short Bi-Iliac Distance in Prenatal Ullrich-Turner Syndrome

DEFF Research Database (Denmark)

Hartling, Ulla B.; Hansen, Birgit Fischer; Keeling, Jean W.

2002-01-01

prenatal; Ullrich-Turner syndrome; pelvis; iliac bone; vertebral column; X chromosome; anthropometry; radiography......prenatal; Ullrich-Turner syndrome; pelvis; iliac bone; vertebral column; X chromosome; anthropometry; radiography...

Moyamoya disease associated with asymptomatic mosaic Turner syndrome: a rare cause of hemorrhagic stroke.

Science.gov (United States)

Manjila, Sunil; Miller, Benjamin R; Rao-Frisch, Anitha; Otvos, Balint; Mitchell, Anna; Bambakidis, Nicholas C; De Georgia, Michael A

2014-01-01

Moyamoya disease is a rare cerebrovascular anomaly involving the intracranial carotid arteries that can present clinically with either ischemic or hemorrhagic disease. Moyamoya syndrome, indistinguishable from moyamoya disease at presentation, is associated with multiple clinical conditions including neurofibromatosis type 1, autoimmune disease, prior radiation therapy, Down syndrome, and Turner syndrome. We present the first reported case of an adult patient with previously unrecognized mosaic Turner syndrome with acute subarachnoid and intracerebral hemorrhage as the initial manifestation of moyamoya syndrome. A 52-year-old woman was admitted with a subarachnoid hemorrhage with associated flame-shaped intracerebral hemorrhage in the left frontal lobe. Physical examination revealed short stature, pectus excavatum, small fingers, micrognathia, and mild facial dysmorphism. Cerebral angiography showed features consistent with bilateral moyamoya disease, aberrant intrathoracic vessels, and an unruptured 4-mm right superior hypophyseal aneurysm. Genetic analysis confirmed a diagnosis of mosaic Turner syndrome. Our case report is the first documented presentation of adult moyamoya syndrome with subarachnoid and intracerebral hemorrhage as the initial presentation of mosaic Turner syndrome. It illustrates the utility of genetic evaluation in patients with cerebrovascular disease and dysmorphism. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

[Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome].

Science.gov (United States)

de Marqui, Alessandra Bernadete Trovó; da Silva-Grecco, Roseane Lopes; Balarin, Marly Aparecida Spadotto

2016-01-01

To assess the prevalence of Y-chromosome sequences and gonadoblastoma in patients with Turner syndrome using molecular techniques. A literature search was performed in Pubmed, limiting the period of time to the years 2005 to 2014 and using the descriptors: Turner syndrome and Y sequences (n=26), and Turner syndrome and Y-chromosome material (n=27). The inclusion criteria were: articles directly related to the subject and published in English or Portuguese. Articles which did not meet these criteria and review articles were excluded. After applying these criteria, 14 papers were left. the main results regarding the prevalence of Y-chromosome sequences in Turner syndrome were: 1-about 60% of the studies were conducted by Brazilian researchers; 2-the prevalence varied from 4.6 to 60%; 3-the most frequently investigated genes were SRY, DYZ3 and TSPY; 4-seven studies used only PCR, while in the remaining seven it was associated with FISH. Nine of the 14 studies reported gonadectomy and gonadoblastoma. The highest prevalence of gonadoblastoma (33%) was found in two studies. In five out of the nine papers evaluated the prevalence of gonadoblastoma was 10 to 25%; in two of them it was zero. according to these data, molecular analysis to detect Y-chromosome sequences in TS patients is indicated, regardless of their karyotype. In patients who test positive for these sequences, gonadoblastoma needs to be investigated. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

Science.gov (United States)

Choi, Intae

2017-01-01

The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea's metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

DEFF Research Database (Denmark)

Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne

2010-01-01

Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function.......Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function....

Cardiovascular assessment of patients with Ullrich-Turner's Syndrome on Doppler echocardiography and magnetic resonance imaging

Directory of Open Access Journals (Sweden)

Castro Ana Valéria Barros de

2002-01-01

Full Text Available OBJECTIVE: To assess the cardiovascular features of Ullrich-Turner's syndrome using echocardiography and magnetic resonance imaging, and to correlate them with the phenotype and karyotype of the patients. The diagnostic concordance between the 2 methods was also assessed. METHODS: Fifteen patients with the syndrome were assessed by echocardiography and magnetic resonance imaging (cardiac chambers, valves, and aorta. Their ages ranged from 10 to 28 (mean of 16.7 years. The karyotype was analyzed in 11 or 25 metaphases of peripheral blood lymphocytes, or both. RESULTS: The most common phenotypic changes were short stature and spontaneous absence of puberal development (100%; 1 patient had a cardiac murmur. The karyotypes detected were as follows: 45,X (n=7, mosaics (n=5, and deletions (n=3. No echocardiographic changes were observed. In regard to magnetic resonance imaging, coarctation and dilation of the aorta were found in 1 patient, and isolated dilation of the aorta was found in 4 patients. CONCLUSION: The frequencies of coarctation and dilation of the aorta detected on magnetic resonance imaging were similar to those reported in the literature (5.5% to 20%, and 6.3% to 29%, respectively. This confirmed the adjuvant role of magnetic resonance imaging to Doppler echocardiography for diagnosing cardiovascular alterations in patients with Ullrich-Turner's syndrome.

Learning about Turner Syndrome

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Skip to main content Learning About Turner Syndrome Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research News Features Funding Divisions Funding ...

Turner syndrome in Albania and the efficacy of its treatment with growth hormone.

Science.gov (United States)

Hoxha, Petrit; Babameto-Laku, Anila; Vyshka, Gentian; Gjoka, Klodiana; Minxuri, Dorina; Myrtaj, Elira; Çakërri, Luljeta

2015-11-01

The aim of this study was the evaluation of Turner syndrome inside the Albanian population, its clinical, cytological and genetic characteristics, the accompanying pathologies, and the efficacy of the treatment with the growth hormone. We performed a retrospective analysis of 59 patients suffering from this syndrome (aging from 5 to 23 years old). The diagnosis of female patients suffering from Turner syndrome is delayed, with a mean age at the moment of diagnosis of 13.74 years (5-23 years). The main reason for seeking medical advice was the growth retardation or a delayed puberty. Available data for 52 patients showed that the most frequent accompanying pathologies were the following: thyroid autoimmune disorders (59%), cardiovascular anomalies (43%), renal pathologies (41%), hearing impairment (4.3%) and hypertension (3.3%). Follow-up for the growth rate was possible for 52 patients out of the total of 59 patients. Twenty-five of the female patients suffering Turner syndrome and forming part of our study sample were treated with growth hormone for a period averaging 3 years and 4 months. A variety of reasons was identified as responsible for the missed treatment in 27 patients. We saw an enhanced growth (in terms of body height) within the treated subgroup, when compared with the untreated subgroup (27 patients), especially during the first 3 years of the follow-up. No side effects of this treatment were reported. Both groups of patients initiated as well a sexual hormone therapy (estrogens and progesterone) for inducing puberty at the age of 12 years. Further work is needed for an early diagnosis of this syndrome, the prompt treatment with growth hormone and the monitoring of accompanying disorders. This will ensure a better quality of life and an improvement of the longevity of patients suffering from the Turner syndrome.

[Origin and morphological features of small supernumerary marker chromosomes in Turner syndrome].

Science.gov (United States)

Liu, Nan; Tong, Tong; Chen, Yue; Chen, Yanling; Cai, Chunquan

2018-02-10

OBJECTIVE To explore the origin and morphological features of small supernumerary marker chromosomes (sSMCs) in Turner syndrome. METHODS For 5 cases of Turner syndrome with a sSMC identified by conventional G-banding, dual-color fluorescence in situ hybridization (FISH) was applied to explore their origin and morphological features. RESULTS Among the 5 cases, 3 have derived from the X chromosome, which included 2 ring chromosomes and 1 centric minute. For the 2 sSMCs derived from the Y chromosome, 1 was ring or isodicentric chromosome, while the other was an isodicentric chromosome. CONCLUSION The sSMCs found in Turner syndrome have almost all derived from sex chromosomes. The majority of sSMCs derived from the X chromosome will form ring chromosomes, while a minority will form centric minute. While most sSMC derived from Y chromosome may exist as isodicentric chromosomes, and a small number may exist as rings. For Turner syndrome patients with sSMCs, dual-color FISH may be used to delineate their origins to facilitate genetic counseling and selection of clinical regime.

Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

Directory of Open Access Journals (Sweden)

Intae Choi

2017-08-01

Full Text Available The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea’s metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

Primary retroperitoneal teratoma and crossed fused renal ectopia with turner's syndrome -a case report-

Energy Technology Data Exchange (ETDEWEB)

Kim, Yun Jung; Hong, Ki Ung [St. Francisco General Hospital, New York (United States)

1988-02-15

In 1938, Turner described a clinical entity in phenotype females characterized by sexual infantilism, congenital webbed neck and cubitus valgus. After then, the occurrence of renal anomalies in patients with Turner's syndrome has been recognized. Associated crossed fused renal ectopia is very rare. Primary retroperitoneal teratoma is also rare and usually during childhood. The authors report a case of primary retroperitoneal teratoma and crossed fused renal ectopia with Turner's syndrome (mosaic type). The clinical, pathological and radiographical findings are reviewed.

Primary retroperitoneal teratoma and crossed fused renal ectopia with turner's syndrome -a case report-

International Nuclear Information System (INIS)

Kim, Yun Jung; Hong, Ki Ung

1988-01-01

In 1938, Turner described a clinical entity in phenotype females characterized by sexual infantilism, congenital webbed neck and cubitus valgus. After then, the occurrence of renal anomalies in patients with Turner's syndrome has been recognized. Associated crossed fused renal ectopia is very rare. Primary retroperitoneal teratoma is also rare and usually during childhood. The authors report a case of primary retroperitoneal teratoma and crossed fused renal ectopia with Turner's syndrome (mosaic type). The clinical, pathological and radiographical findings are reviewed

Analysis of clinic and osteal change in Turner syndrome (report of 15 cases)

International Nuclear Information System (INIS)

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

2006-01-01

Objective: To research the clinical and osteal radiology imaging features in Turner's syndrome. Methods: Analyzed the clinical and osteal radiology imaging features of 15 Turner's syndrome. Results: 15 patients were Karyotyped into 3 groups I, 45, X, n=8; II, 46, XX, n=5; III, 46, XX/45, X, n = 2. Radiology imaging features: osteo-porosis, n=14; metacarpal sign, n=8; phahanx, n=9; cubitus valgus, n=10; vertebra steodystrophia, n=5; brachy-dactylya, n=9; basilar impression malformation, n=11. Conclusion: The terminal heights of Turner' s patients were marked lower than normal growth, hormone was deficiency, learning ability declined and the sex gland was hypoplastic. The typical imaging feature do main reference value to diagnosis. (authors)

A meta-analysis of math performance in Turner syndrome.

Science.gov (United States)

Baker, Joseph M; Reiss, Allan L

2016-02-01

Studies investigating the relationship between Turner syndrome and math learning disability have used a wide variation of tasks designed to test various aspects of mathematical competencies. Although these studies have revealed much about the math deficits common to Turner syndrome, their diversity makes comparisons between individual studies difficult. As a result, the consistency of outcomes among these diverse measures remains unknown. The overarching aim of this review is to provide a systematic meta-analysis of the differences in math and number performance between females with Turner syndrome and age-matched neurotypical peers. We provide a meta-analysis of behavioral performance in Turner syndrome relative to age-matched neurotypical populations on assessments of math and number aptitude. In total, 112 comparisons collected across 17 studies were included. Although 54% of all statistical comparisons in our analyses failed to reject the null hypothesis, our results indicate that meaningful group differences exist on all comparisons except those that do not require explicit calculation. Taken together, these results help elucidate our current understanding of math and number weaknesses in Turner syndrome, while highlighting specific topics that require further investigation. © 2015 Mac Keith Press.

Successful pregnancy with preimplantation genetic diagnosis in a woman with mosaic Turner syndrome.

Science.gov (United States)

Onalan, Gogsen; Yilmaz, Zerrin; Durak, Tulay; Sahin, Feride Iffet; Zeyneloglu, Hulusi Bulent

2011-04-01

To determine the efficacy of the preimplantation cytogenetic analysis of the embryos obtained from patient with mosaic Turner syndrome before an IVF program. Prospective cytogenetic analysis. University-based tertiary medical center. A 29 year-old female, a partner in a couple with male factor infertility, was diagnosed with mosaic Turner syndrome with a 45,X [17]/46,XX [13] karyotype. Preimplantation genetic diagnosis was performed on four blastomeres obtained from four different embryos by fluorescence in situ hybridization probes specific to chromosomes X, Y, 13, 18, 21 in an intracytoplasmic sperm injection cycle. Blastomeres with normal signals. Two blastomeres detected as normal were transferred and pregnancy was achieved. Preimplantation Genetic Diagnose should be considered in the infertility treatment of the patient with mosaic Turner Syndrome. Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome

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Vineet V Mishra

2015-01-01

Full Text Available We present a patient with nonclassic congenital adrenal hyperplasia (NCAH misdiagnosed as mosaic Turner syndrome. She presented with complaints of primary infertility. Short stature, the presence of facial hair and hoarse voice was also noted. She had primary amenorrhea and was advised for karyotype at 16 years of age, which was reported as 45, X[20]/46, XX[80], stating her as a case of mosaic Turner syndrome. Clitoroplasty was done at 21 years of age for clitoromegaly, which was noticed during puberty. The diagnosis of mosaic Turner could not explain the virilization. Therefore, we repeated the karyotype, which revealed 46, XX in more than 100 metaphases and was sufficient to exclude mosaicism. Furthermore, the endocrinological evaluation revealed high testosterone level with a normal 17 alpha-hydroxyprogesterone (17-OHP. The presence of pubertal onset virilization with a karyotype of 46, XX and raised testosterone level with normal 17-OHP level, raised the suspicion of NCAH for which adrenocorticotropic hormone stimulation test was done which confirmed the diagnosis of NCAH.

A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX).

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Zhou, Qi; Yao, Fengxia; Wang, Feng; Li, Hui; Chen, Rui; Sui, Ruifang

2018-01-01

Turner syndrome with retinitis pigmentosa (RP) is rare, with only three cases reported based on clinical examination alone. We summarized the 4-year follow-up and molecular findings in a 28-year-old patient with Turner syndrome and the typical features of short stature and neck webbing, who also had X-linked RP. Her main complaints were night blindness and progressive loss of vision since the age of 9 years. Ophthalmologic examination, optical coherent tomographic imaging, and visual electrophysiology tests showed classic manifestations of RP. The karyotype of peripheral blood showed mosaicism (45,X [72%]/46,XX[28%]). A novel heterozygous frameshift mutation (c.2403_2406delAGAG, p.T801fsX812) in the RP GTPase regulator (RPGR) gene was detected using next generation sequencing and validated by Sanger sequencing. We believe that this is the first report of X-linked RP in a patient with Turner syndrome associated with mosaicism, and an RPGR heterozygous mutation. We hypothesize that X-linked RP in this woman is not related to Turner syndrome, but may be a manifestation of the lack of a normal paternal X chromosome with intact but mutated RPGR. © 2017 Wiley Periodicals, Inc.

Two male patients with ring Y : definition of an interval in Yq contributing to Turner syndrome

NARCIS (Netherlands)

Tzancheva, M; Kaneva, R; Kumanov, P; Williams, G; Tyler-Smith, C

Turner syndrome is thought to result from the haploinsufficiency of genes on the sex chromosomes, but these genes have not been identified yet. We describe two males with deleted ring Y chromosomes, one (TS) with full Turner syndrome and one (DM) without. TS has short stature, skeletal anomalies,

The value of abdominal angiography in Turner's syndrome

International Nuclear Information System (INIS)

Barreto, A.; Castaneda-Zuniga, W.R.; Velasquez, G.; Zollikofer, C.; Amplatz, K.

1981-01-01

In patients with Turner's syndrome, there is a relatively high incidence of gastrointestinal bleeding due to telangiectasias of the intestine. Despite the importance of preoperative diagnosis of the lesion in planning surgical treatment. The related angiographic findings have never been reported. We have studied one patient in whom the diagnosis was established by preoperative angiography. (orig.)

Math Achievement, Numerical Processing, and Executive Functions in Girls with Turner Syndrome: Do Girls with Turner Syndrome Have Math Learning Disability?

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Mazzocco, Michele M. M.; Hanich, Laurie B.

2010-01-01

Turner syndrome is a common genetic disorder associated with select deficits in executive functions, working memory and mathematics. In Study 1, we examined growth trajectories of skills in these areas, from grades 1 to 6, among girls with or without Turner syndrome. Rates of growth and performance levels at 6th grade, on an untimed math…

Partial abnormal pulmonary venous return in Turner syndrome

NARCIS (Netherlands)

van Wassenaer, A. G.; Lubbers, L. J.; Losekoot, G.

1988-01-01

Three cases of partial anomalous pulmonary venous return, in one case combined with coarctation of the aorta and in another with discrete subaortic stenosis, are described in patients with Turner syndrome. In two of them the right and left superior pulmonary veins drained into the right superior

The prevalence of turner syndrome in girls presenting with coarctation of the aorta.

Science.gov (United States)

Wong, Sze Choong; Burgess, Trent; Cheung, Michael; Zacharin, Margaret

2014-02-01

To determine the prevalence of Turner syndrome in girls presenting with coarctation of the aorta (CoA). A total of 132 girls with known structural CoA was identified. Those girls who had no previous karyotype analysis performed were asked to participate in a research study in which a banded karyotype with 50-cell count was performed. Of 132 girls with CoA, 55 (41.7%) had karyotype analysis within 6 months of cardiac diagnosis. Three girls underwent karyotyping later because of clinical concerns. Of the 74 girls with CoA who had not had a karyotype, 38 (51.4%) consented to the study. Results were available for 37 girls. All were 46,XX. Five patients with Turner syndrome were identified in the 95 girls with CoA who had karyotype analysis (4 from early karyotype and 1 diagnosed later), which translated into a minimum prevalence of 5.3% of Turner syndrome in this group of girls with CoA. In addition, one infant with a 20-cell 46,XX karyotype had features of Turner syndrome. Our study demonstrated for the first time in a large cohort that 5.3% of girls presenting with CoA are found to have Turner syndrome when karyotyping is performed. Given the spectrum of preventable and treatable health problems after the diagnosis of Turner syndrome, we believe that all girls with CoA should have a karyotype analysis, ideally with at least 50-cell count, at the time of diagnosis of CoA. Copyright © 2014 Mosby, Inc. All rights reserved.

Growth hormone deficiency in a Nigerian child with Turner's syndrome

African Journals Online (AJOL)

IRORO YARHERE

Growth hormone treatment early in the course of management of a child with Turner syndrome may help achieve normal final height. Keywords: Turner's syndrome, short stature, growth hormone deficiency, growth hormone ..... cognitive deficit.

Language and Literacy in Turner Syndrome

Science.gov (United States)

Murphy, Melissa M.

2009-01-01

Language problems can be associated with specific genetic syndromes, such as Klinefelter syndrome and fragile X syndrome, even in the absence of intellectual and developmental disabilities. Turner syndrome, a relatively common genetic disorder, is caused by the complete or partial absence of 1 of the 2 X chromosomes typically present in women. The…

Magnetic resonance imaging 4-D flow-based analysis of aortic hemodynamics in Turner syndrome

International Nuclear Information System (INIS)

Arnold, Raoul; Neu, Marie; Hirtler, Daniel; Gimpel, Charlotte; Markl, Michael; Geiger, Julia

2017-01-01

Cardiovascular surveillance is important in Turner syndrome because of the increased risk of aortic dilation and dissection with consecutively increased mortality. To compare 4-D flow MRI for the characterization of aortic 3-D flow patterns, dimensions and vessel wall parameters in pediatric patients with Turner syndrome and age-matched controls. We performed 4-D flow MRI measuring in vivo 3-D blood flow with coverage of the thoracic aorta in 25 patients with Turner syndrome and in 16 female healthy controls (age mean ± standard deviation were 16 ± 5 years and 17 ± 4 years, respectively). Blood flow was visualized by time-resolved 3-D path lines. Visual grading of aortic flow in terms of helices and vortices was performed by two independent observers. Quantitative analysis included measurement of aortic diameters, quantification of peak systolic wall shear stress, pulsatility index and oscillatory shear index at eight defined sites. Patients with Turner syndrome had significantly larger aortic diameters normalized to BSA, increased vortices in the ascending aorta and elevated helix flow in the ascending and descending aorta compared to controls (all P<0.03). Patients with abnormal helical or vortical flow in the ascending aorta had significantly larger diameters of the ascending aorta (P<0.03). Peak systolic wall shear stress, pulsatility index and oscillatory shear index were significantly lower in Turner patients compared to controls (p=0.02, p=0.002 and p=0.01 respectively). Four-dimensional flow MRI provides new insights into the altered aortic hemodynamics and wall shear stress that could have an impact on the development of aortic dissections. (orig.)

Magnetic resonance imaging 4-D flow-based analysis of aortic hemodynamics in Turner syndrome

Energy Technology Data Exchange (ETDEWEB)

Arnold, Raoul [University Medical Center Heidelberg, Department of Congenital Heart Disease and Pediatric Cardiology, Heidelberg (Germany); Neu, Marie [University Medical Center, Department of Pediatric Hematology/Oncology/Hemostaseology, Mainz (Germany); Hirtler, Daniel [University of Freiburg, Department of Congenital Heart Defects and Pediatric Cardiology, Heart Center, Freiburg im Breisgau (Germany); Gimpel, Charlotte [Center for Pediatrics, Medical Center - University of Freiburg, Department of General Pediatrics, Adolescent Medicine and Neonatology, Freiburg im Breisgau (Germany); Markl, Michael [Northwestern University, Department of Radiology, Feinberg School of Medicine, Chicago, IL (United States); Northwestern University, Department of Biomedical Engineering, McCormick School of Engineering, Chicago, IL (United States); Geiger, Julia [Northwestern University, Department of Radiology, Feinberg School of Medicine, Chicago, IL (United States); University Children' s Hospital, Department of Radiology, Zuerich (Switzerland)

2017-04-15

Cardiovascular surveillance is important in Turner syndrome because of the increased risk of aortic dilation and dissection with consecutively increased mortality. To compare 4-D flow MRI for the characterization of aortic 3-D flow patterns, dimensions and vessel wall parameters in pediatric patients with Turner syndrome and age-matched controls. We performed 4-D flow MRI measuring in vivo 3-D blood flow with coverage of the thoracic aorta in 25 patients with Turner syndrome and in 16 female healthy controls (age mean ± standard deviation were 16 ± 5 years and 17 ± 4 years, respectively). Blood flow was visualized by time-resolved 3-D path lines. Visual grading of aortic flow in terms of helices and vortices was performed by two independent observers. Quantitative analysis included measurement of aortic diameters, quantification of peak systolic wall shear stress, pulsatility index and oscillatory shear index at eight defined sites. Patients with Turner syndrome had significantly larger aortic diameters normalized to BSA, increased vortices in the ascending aorta and elevated helix flow in the ascending and descending aorta compared to controls (all P<0.03). Patients with abnormal helical or vortical flow in the ascending aorta had significantly larger diameters of the ascending aorta (P<0.03). Peak systolic wall shear stress, pulsatility index and oscillatory shear index were significantly lower in Turner patients compared to controls (p=0.02, p=0.002 and p=0.01 respectively). Four-dimensional flow MRI provides new insights into the altered aortic hemodynamics and wall shear stress that could have an impact on the development of aortic dissections. (orig.)

A rare association of hyperparathyroidism and Turner's Syndrome - a case report

International Nuclear Information System (INIS)

Shirzad, N.; Tehrani, M.; Soltani, A.

2008-01-01

We present the clinical, laboratory, radiological and pathological findings in the case and review the literature. Our patient, a 37-year-old woman of short stature, was referred because of musculoskeletal pain. After primary evaluation, she underwent treatment with calcium and vitamin D supplement with the diagnosis of osteomalacia in Turners syndrome. The rise of serum calcium during medical therapy, which was an unusual finding, attracted the clinician's attention to another underlying disorder. Further evaluation revealed primary hyperparathyroidism due to an adenoma of the parathyroid gland. Even though this is a rare diagnosis, its presence should be considered in any patient with Turner's syndrome presenting with severe osteoporosis and a rise in serum calcium during treatment. (author)

Hypogonadism and Sex Steroid Replacement Therapy in Girls with Turner Syndrome.

Science.gov (United States)

Gawlik, Aneta; Hankus, Magdalena; Such, Kamila; Drosdzol-Cop, Agnieszka; Madej, Paweł; Borkowska, Marzena; Zachurzok, Agnieszka; Malecka-Tendera, Ewa

2016-12-01

Turner syndrome is the most common example of hypergonadotropic hypogonadism resulting from gonadal dysgenesis. Most patients present delayed, or even absent, puberty. Premature ovarian failure can be expected even if spontaneous menarche occurs. Laboratory markers of gonadal dysgenesis are well known. The choice of optimal hormone replacement therapy in children and adolescents remains controversial, particularly regarding the age at which therapy should be initiated, and the dose and route of estrogen administration. On the basis of a review of the literature, we present the most acceptable schedule of sex steroid replacement therapy in younger patients with Turner syndrome. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Multiple cerebral cavernous malformations in a pediatric patient with Turner syndrome

Directory of Open Access Journals (Sweden)

Nicholas T. Gamboa, B.S.

2017-12-01

Full Text Available Turner syndrome (TS; 45,X0 is a relatively common chromosomal disorder that is associated with characteristic phenotypic stigmata: short stature, webbed neck, broad (“shield” chest with widely spaced nipples, cubitus valgus, ovarian dysgenesis (“streak ovary”, primary amenorrhea, renal anomalies, lymphedema of the hands or feet, and various vascular abnormalities. Abnormalities of the cardiovascular system are commonly reported in patient with TS, and vascular anomalies affecting various other organ systems are also frequently reported. To date, however, few reports of intracranial vascular malformations exist. The authors report the case of a patient with TS who was found to have multiple cerebral cavernous malformations on imaging.

Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency.

Science.gov (United States)

Gibson, Christopher E; Boodhansingh, Kara E; Li, Changhong; Conlin, Laura; Chen, Pan; Becker, Susan A; Bhatti, Tricia; Bamba, Vaneeta; Adzick, N Scott; De Leon, Diva D; Ganguly, Arupa; Stanley, Charles A

2018-06-14

Previous case reports have suggested a possible association of congenital hyperinsulinism with Turner syndrome. We examined the clinical and molecular features in girls with both congenital hyperinsulinism and Turner syndrome seen at The Children's Hospital of Philadelphia (CHOP) between 1974 and 2017. Records of girls with hyperinsulinism and Turner syndrome were reviewed. Insulin secretion was studied in pancreatic islets and in mouse islets treated with an inhibitor of KDM6A, an X chromosome gene associated with hyperinsulinism in Kabuki syndrome. Hyperinsulinism was diagnosed in 12 girls with Turner syndrome. Six were diazoxide-unresponsive; 3 had pancreatectomies. The incidence of Turner syndrome among CHOP patients with hyperinsulinism (10 of 1,050 from 1997 to 2017) was 48 times more frequent than expected. The only consistent chromosomal anomaly in these girls was the presence of a 45,X cell line. Studies of isolated islets from 1 case showed abnormal elevated cytosolic calcium and heightened sensitivity to amino acid-stimulated insulin release; similar alterations were demonstrated in mouse islets treated with a KDM6A inhibitor. These results demonstrate a higher than expected frequency of Turner syndrome among children with hyperinsulinism. Our data suggest that haploinsufficiency for KDM6A due to mosaic X chromosome monosomy may be responsible for hyperinsulinism in Turner syndrome. © 2018 S. Karger AG, Basel.

Allometric considerations when assessing aortic aneurysms in Turner syndrome: Implications for activity recommendations and medical decision-making.

Science.gov (United States)

Corbitt, Holly; Maslen, Cheryl; Prakash, Siddharth; Morris, Shaine A; Silberbach, Michael

2018-02-01

In Turner syndrome, the potential to form thoracic aortic aneurysms requires routine patient monitoring. However, the short stature that typically occurs complicates the assessment of severity and risk because the relationship of body size to aortic dimensions is different in Turner syndrome compared to the general population. Three allometric formula have been proposed to adjust aortic dimensions, all employing body surface area: aortic size index, Turner syndrome-specific Z-scores, and Z-scores based on a general pediatric and young adult population. In order to understand the differences between these formula we evaluated the relationship between age and aortic size index and compared Turner syndrome-specific Z-scores and pediatric/young adult based Z-scores in a group of girls and women with Turner syndrome. Our results suggest that the aortic size index is highly age-dependent for those under 15 years; and that Turner-specific Z-scores are significantly lower than Z-scores referenced to the general population. Higher Z-scores derived from the general reference population could result in stigmatization, inappropriate restriction from sports, and increasing the risk of unneeded medical or operative treatments. We propose that when estimating aortic dissection risk clinicians use Turner syndrome-specific Z-score for those under fifteen years of age. © 2017 Wiley Periodicals, Inc.

Small carpal bone surface area, a characteristic of Turner's syndrome

International Nuclear Information System (INIS)

Cleveland, R.H.; Done, S.; Correia, J.A.; Crawford, J.D.; Kushner, D.C.; Herman, T.E.

1985-01-01

An abnormality which has received little attention but may be easily recognized on radiographs of the hand of patients with Turner's syndrome is described. Eleven of thirty-one patients (35.5%) with Turner's syndrome were shown on radiographs of the hand to have a visually detectable smallness of the bone surface area of the carpus when compared to the area of the second through fifth metacarpals. Values for the ''C/M'' ratio (the area of the carpals divided by the area of the second through fifth metacarpals) were calculated for films of 31 individuals with gonadal dysgenesis and compared with those from bone age-matched films of seventy-six individuals with normal development of the hand and wrist. A consistent difference with minimal overlap was documented. (orig./WL)

Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations.

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Trolle, Christian; Mortensen, Kristian H; Pedersen, Lisbeth N; Berglund, Agnethe; Jensen, Henrik K; Andersen, Niels H; Gravholt, Claus H

2013-01-01

QT-interval prolongation of unknown aetiology is common in Turner syndrome. This study set out to explore the presence of known long QT mutations in Turner syndrome and to examine the corrected QT-interval (QTc) over time and relate the findings to the Turner syndrome phenotype. Adult women with Turner syndrome (n = 88) were examined thrice and 68 age-matched healthy controls were examined once. QTc was measured by one blinded reader (intra-reader variability: 0.7%), and adjusted for influence of heart rate by Bazett's (bQTc) and Hodges's formula (hQTc). The prevalence of mutations in genes related to Long QT syndrome was determined in women with Turner syndrome and a QTc >432.0 milliseconds (ms). Echocardiographic assessment of aortic valve morphology, 24-hour blood pressures and blood samples were done. The mean hQTc in women with Turner syndrome (414.0 ± 25.5 ms) compared to controls (390.4 ± 17.8 ms) was prolonged (pTurner syndrome karyotypes (418.2 ± 24.8 vs. 407.6 ± 25.5 ms; p = 0.055). In women with Turner syndrome and a bQTc >432 ms, 7 had mutations in major Long QT syndrome genes (SCN5A and KCNH2) and one in a minor Long QT syndrome gene (KCNE2). There is a high prevalence of mutations in the major LQTS genes in women with TS and prolonged QTc. It remains to be settled, whether these findings are related to the unexplained excess mortality in Turner women. NCT00624949. https://register.clinicaltrials.gov/prs/app/action/SelectProtocol/sid/S0001FLI/selectaction/View/ts/3/uid/U000099E.

Serum LH and FSH Responses to Synthetic LH-RH in Normal Infants, Children and Patients With Turner's Syndrome

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Suwa, Seizo; And Others

1974-01-01

Effects of luteinizing hormone-releasing hormone (LH-RH) on LH and follicle-stimulating hormone (FSH) release were studied in 26 normal children and six patients (from 1-to 14-years-old) with Turner's syndrome. (Author)

Magnetic resonance imaging 4-D flow-based analysis of aortic hemodynamics in Turner syndrome.

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Arnold, Raoul; Neu, Marie; Hirtler, Daniel; Gimpel, Charlotte; Markl, Michael; Geiger, Julia

2017-04-01

Cardiovascular surveillance is important in Turner syndrome because of the increased risk of aortic dilation and dissection with consecutively increased mortality. To compare 4-D flow MRI for the characterization of aortic 3-D flow patterns, dimensions and vessel wall parameters in pediatric patients with Turner syndrome and age-matched controls. We performed 4-D flow MRI measuring in vivo 3-D blood flow with coverage of the thoracic aorta in 25 patients with Turner syndrome and in 16 female healthy controls (age mean ± standard deviation were 16 ± 5 years and 17 ± 4 years, respectively). Blood flow was visualized by time-resolved 3-D path lines. Visual grading of aortic flow in terms of helices and vortices was performed by two independent observers. Quantitative analysis included measurement of aortic diameters, quantification of peak systolic wall shear stress, pulsatility index and oscillatory shear index at eight defined sites. Patients with Turner syndrome had significantly larger aortic diameters normalized to BSA, increased vortices in the ascending aorta and elevated helix flow in the ascending and descending aorta compared to controls (all PTurner patients compared to controls (p=0.02, p=0.002 and p=0.01 respectively). Four-dimensional flow MRI provides new insights into the altered aortic hemodynamics and wall shear stress that could have an impact on the development of aortic dissections.

Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.

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Kaczorowska, Ewa; Zimowski, Janusz; Cichoń-Kotek, Monika; Mrozińska, Agnieszka; Purzycka, Joanna; Wierzba, Jolanta; Limon, Janusz; Lipska-Ziętkiewicz, Beata S

Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally. Here, we report a 4 ½ year-old female with classical 45,X Turner syndrome who also had Duchenne muscular dystrophy caused by a point mutation in the dystrophin gene (c.9055delG). The patient showed the typical phenotype of Turner syndrome including distinctive dysmorphic features (short neck, low posterior hairline, wide position of nipples), aortic coarctation and feet lymphedema. Besides, she presented with an unusually early beginning of muscular dystrophy symptoms with infantile-onset motor developmental delay, intellectual disability and early calf muscular hypertrophy. The coexistence of an X-linked recessive disorder should be considered in women affected by Turner syndrome presenting with additional atypical clinical features.

Oxandrolone in growth hormone-treated girls with Turner syndrome

NARCIS (Netherlands)

Menke, Leonie Alexandra

2010-01-01

Turner syndrome (TS) is a disorder in females that is caused by the complete or partial absence of the second sex chromosome. The main characteristics are gonadal dysgenesis and short stature, with adult patients being on average 20 cm shorter than healthy women. Growth hormone (GH) therapy

Mosaic male fetus of Turner syndrome with partial chromosome Y: A case report.

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Xue, Dan; Cao, Dong-Hua; Mu, Kai; Lv, Yuan; Yang, Jun

2018-06-01

Turner syndrome, characterized by the presence of a monosomy X cell line, is a common chromosomal disorder. Patients with Turner syndrome are usually phenotypically female, and male cases are rarely reported. Here, we report a fetus with a mosaic karyotype: mos 45,X/46,X,del(Y)(q11.21). The fetus was initially misdiagnosed as female with Turner syndrome by both noninvasive prenatal testing and cytogenetic analysis of amniotic fluid and was subsequently found to have male anatomy by antenatal ultrasonography at 24 weeks gestational age. Through single nucleotide polymorphism-array and fluorescence in situ hybridization testing, we found that there was a truncated Y chromosome with sex-determining region Y (SRY) present in some cells of the fetus, which caused the male features in the fetus. © 2018 Japan Society of Obstetrics and Gynecology.

A case report of acute myelogenous leukemia with Turner Syndrome.

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Siddiqui, Nadir; Ali Baig, Mirza Faris; Khan, Bilal Ahmed

2017-09-01

Turner Syndrome was diagnosed in a 45 years old female, known case of Acute Myeloid Leukaemia (AML) with maturation, on Bone Marrow biopsy. She presented with blurred vision, vertigo, exertional dyspnoea and insomnia. She did not show the typical features of Turner syndrome, but her cytogenetis confirmed the diagnosis. Bone marrow biopsy showed diffuse infiltration of blast cells with cellularity around 80-85% and haematopoietic suppression. Karyotype analysis showed: 45 X, -X, t (8; 21) (q22; q22) [According to The International System for Human Cytogenetic Nomenclature (ISCN)]. Turner syndrome is caused by partial or complete absence of second X chromosome in a female. It is known to have Cardiovascular and Reproductive complications but it is rare to find haematologic malignancies. There are few similar reported cases of AML associated with Turner syndrome, therefore this is a unique case presented to Jinnah Postgraduate Medical Center, Karachi, Pakistan and further research should be done to identify more similar cases to explore the prognostic significance of this association.

Pheochromocytoma as a rare cause of hypertension in a 46 X, i(X)(q10) turner syndrome: a case report and literature review.

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Shin, Ji Yeon; Kim, Bo Hyun; Kim, Young Keum; Kim, Tae Hwa; Kim, Eun Heui; Lee, Min Jin; Kim, Jong Ho; Jeon, Yun Kyung; Kim, Sang Soo; Kim, In Joo

2018-05-10

Cardiovascular disease (CVD) presents the most serious health problems and contributes to the increased mortality in young women with Turner syndrome. Arterial hypertension in Turner syndrome patients is significantly more prevalent than that in a general age-matched control group. The aetiology of hypertension in Turner syndrome varies, even in the absence of cardiac anomalies and obvious structural renal abnormalities. Pheochromocytoma is an extremely rare cause among various etiologies for hypertension in patients with Turner syndrome. Here, we reported a pheochromocytoma as a rare cause of hypertension in Turner syndrome patient. A 21-year-old woman who has diagnosed with Turner syndrome with a karyotype of 46,X,i(X)(q10) visited for hypertension and mild headache. Transthoracic echography (TTE) showed no definite persistent ductus arteriosus shunt flow and cardiac valve abnormalities. Considering other important secondary causes like pheochromocytoma, hormonal studies were performed and the results showed increased serum norepinephrine, serum normetanephrine, and 24 h urine norepinephrine. We performed an abdominal computed tomography (CT) to confirm the location of pheochromocytoma. Abdominal CT showed a 1.9 cm right adrenal mass. I-131 meta-iodobenzylguanidine (MIBG) scintigraphy showed a right adrenal uptake. Laparoscopic adrenalectomy was performed and confirmed a pheochromocytoma. After surgery, blood pressure was within normal ranges and postoperative course was uneventful, and no recurrence developed via biochemical tests and abdominal CT until 24 months. Our case and previous literatures suggest that hypertension caused by pheochromocytoma which is a rare but important and potentially lethal cause of hypertension in Turner syndrome. This case underlines the importance of early detection of pheochromocytoma in Turner syndrome. Clinicians should keep in mind that pheochromocytoma can be a cause of hypertension in patients with Turner syndrome.

Psychosocial Characteristics of Women with a Delayed Diagnosis of Turner Syndrome.

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Reimann, Gabrielle E; Bernad Perman, Martha M; Ho, Pei-Shu; Parks, Rebecca A; Comis, Leora E

2018-05-09

To characterize the psychosocial profiles of adult women diagnosed with Turner syndrome before (early diagnosis) and at or after (late diagnosis) 13 years of age. Women with Turner syndrome ages 22 and older at evaluation (n = 110) participated in a cross-sectional study at the National Institutes of Health. Researchers performed nonparametric and logistic regression analyses to assess early and late diagnosis cohorts on measures of depression, substance use, and perceptions of competence and identity. Of study participants, 47% received a Turner syndrome diagnosis at or after age 13 years. Median age at diagnosis was 12.0 years (range, 0-43). Covariate-adjusted models revealed that women with late diagnoses had an increased likelihood of developing mild to severe depressive symptoms (OR,  7.36) and a decreased likelihood of being perceived as competent (OR, 0.26). Women with a late diagnosis also exhibited more frequent substance use compared with women with early diagnoses. These data suggest that Turner syndrome diagnoses received at or after age 13 years may contribute to adverse outcomes related to depression, substance use, and perceptions of competence. Delayed Turner syndrome diagnoses may place women and girls at risk for negative psychosocial development extending into adulthood. These findings indicate it is important for pediatricians to evaluate psychosocial domains in girls with Turner syndrome regularly, particularly among those diagnosed at age 13 years or older. ClinicalTrials.gov: NCT00006334. Published by Elsevier Inc.

The Turner syndrome in patient with 45X/47XXX mosaic karyotype--case report.

Science.gov (United States)

Maciejewska-Jeske, Marzena; Czyzyk, Adam; Meczekalski, Blazej

2015-07-01

Turner syndrome (TS) is a gonadal dysgenesis related to partial or total lack of one of the X chromosomes. It this report we describe a young patient presenting some somatic features of TS, who underwent spontaneous puberty and was eumenoorheic up to the age of 23. Using fluorescent in situ hybridization (FISH) mosaic karyotype (45X[131]/47XXX[9]) of TS and triple X syndrome was found. She presented uncommon for TS somatic hemihypotrophy and underwent growth hormone and surgical therapy. The patient was diagnosed with premature ovarian failure when she was 23, with absent follicular reserve. Clinical features of this case and a few published cases will be reviewed briefly.

Epicardial oesophageal duplication with hiatal hernia in a case of Turner's syndrome

International Nuclear Information System (INIS)

Tamburrini, O.; Cigliano, S.; Esposito, G.; Cucchiara, S.

1983-01-01

The authors of this paper report the first case of epicardial oesophageal duplication causing hiatal hernia in a patient afflicted with Turner's syndrome, and they discuss its possible etiology. (orig.)

The Turner Syndrome: Cognitive Deficits, Affective Discrimination, and Behavior Problems.

Science.gov (United States)

McCauley, Elizabeth; And Others

1987-01-01

The study attemped to link cognitive and social problems seen in girls with Turner syndrome by assessing the girls' ability to process affective cues. Seventeen 9- to 17-year-old girls diagnosed with Turner syndrome were compared to a matched control group on a task which required interpretation of affective intention from facial expression.…

Short bi-iliac distance in prenatal Ullrich-Turner syndrome

DEFF Research Database (Denmark)

Hartling, Ulla B; Hansen, Birgit Fischer; Keeling, Jean W

2002-01-01

The purpose of the present study is to evaluate the bi-iliac distance and the caudo-cranial position of the iliac bones in Ullrich-Turner syndrome (UTS) fetuses compared to recently published standards for normal fetuses. Whole-body radiographs in antero-posterior projections of 24 UTS fetuses...... in normal fetuses. The bi-iliac distance and the iliac bone position have not previously been described in Ullrich-Turner syndrome fetuses....

Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations.

Directory of Open Access Journals (Sweden)

Christian Trolle

Full Text Available QT-interval prolongation of unknown aetiology is common in Turner syndrome. This study set out to explore the presence of known long QT mutations in Turner syndrome and to examine the corrected QT-interval (QTc over time and relate the findings to the Turner syndrome phenotype.Adult women with Turner syndrome (n = 88 were examined thrice and 68 age-matched healthy controls were examined once. QTc was measured by one blinded reader (intra-reader variability: 0.7%, and adjusted for influence of heart rate by Bazett's (bQTc and Hodges's formula (hQTc. The prevalence of mutations in genes related to Long QT syndrome was determined in women with Turner syndrome and a QTc >432.0 milliseconds (ms. Echocardiographic assessment of aortic valve morphology, 24-hour blood pressures and blood samples were done.The mean hQTc in women with Turner syndrome (414.0 ± 25.5 ms compared to controls (390.4 ± 17.8 ms was prolonged (p432 ms, 7 had mutations in major Long QT syndrome genes (SCN5A and KCNH2 and one in a minor Long QT syndrome gene (KCNE2.There is a high prevalence of mutations in the major LQTS genes in women with TS and prolonged QTc. It remains to be settled, whether these findings are related to the unexplained excess mortality in Turner women.NCT00624949. https://register.clinicaltrials.gov/prs/app/action/SelectProtocol/sid/S0001FLI/selectaction/View/ts/3/uid/U000099E.

Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome.

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Massingham, Lauren J; Johnson, Kirby L; Scholl, Thomas M; Slonim, Donna K; Wick, Heather C; Bianchi, Diana W

2014-09-01

Turner syndrome is a sex chromosome aneuploidy with characteristic malformations. Amniotic fluid, a complex biological material, could contribute to the understanding of Turner syndrome pathogenesis. In this pilot study, global gene expression analysis of cell-free RNA in amniotic fluid supernatant was utilized to identify specific genes/organ systems that may play a role in Turner syndrome pathophysiology. Cell-free RNA from amniotic fluid of five mid-trimester Turner syndrome fetuses and five euploid female fetuses matched for gestational age was extracted, amplified, and hybridized onto Affymetrix(®) U133 Plus 2.0 arrays. Significantly differentially regulated genes were identified using paired t tests. Biological interpretation was performed using Ingenuity Pathway Analysis and BioGPS gene expression atlas. There were 470 statistically significantly differentially expressed genes identified. They were widely distributed across the genome. XIST was significantly down-regulated (p Turner syndrome transcriptome from other aneuploidies we previously studied. Manual curation of the differentially expressed gene list identified genes of possible pathologic significance, including NFATC3, IGFBP5, and LDLR. Transcriptomic differences in the amniotic fluid of Turner syndrome fetuses are due to genome-wide dysregulation. The hematologic/immune system differences may play a role in early-onset autoimmune dysfunction. Other genes identified with possible pathologic significance are associated with cardiac and skeletal systems, which are known to be affected in females with Turner syndrome. The discovery-driven approach described here may be useful in elucidating novel mechanisms of disease in Turner syndrome.

Empathy, autistic traits, and motor resonance in adults with Turner syndrome.

Science.gov (United States)

Lepage, Jean-François; Lortie, Mélissa; Deal, Cheri L; Théoret, Hugo

2014-01-01

Turner syndrome is a genetic condition resulting from the partial or complete absence of an X-chromosome in phenotypic females. Individuals with Turner syndrome often display social difficulties that are reminiscent of those associated with autistic spectrum disorders (ASD), conditions associated with empathy and mirror-neuron system (MNS) deficits. The goal of the present study was (1) to investigate the extent to which adults with Turner syndrome display autistic and empathic traits, and (2) to probe the integrity of the MNS in this neurogenetic disorder. Sixteen individuals with Turner syndrome and 16 age-, sex-, and IQ-matched controls took part in a neuropsychological assessment where the Weschler Abbreviated Scale of Intelligence, the Autism Spectrum Quotient and the Empathy Quotient were administered. Functioning of the MNS was assessed by measuring motor cortex activity with transcranial magnetic stimulation during an action-observation task. Results show that individuals with Turner syndrome do not differ significantly from controls regarding autistic or empathic traits, and present normal functioning of the MNS during action observation. Correlational analysis showed a significant positive relationship between scores on the Empathy Quotient and motor facilitation during action observation, bringing further support to the hypothesis that MNS activity is related to sociocognitive competence.

Cognitive Profile of Turner Syndrome

Science.gov (United States)

Hong, David; Kent, Jamie Scaletta; Kesler, Shelli

2009-01-01

Turner syndrome (TS) is a relatively common neurogenetic disorder characterized by complete or partial monosomy-X in a phenotypic female. TS is associated with a cognitive profile that typically includes intact intellectual function and verbal abilities with relative weaknesses in visual-spatial, executive, and social cognitive domains. In this…

Development of disease-specific growth charts in Turner syndrome and Noonan syndrome

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Tsuyoshi Isojima

2017-12-01

Full Text Available Many congenital diseases are associated with growth failure, and patients with these diseases have specific growth patterns. As the growth patterns of affected individuals differ from those of normal populations, it is challenging to detect additional conditions that can influence growth using standard growth charts. Disease-specific growth charts are thus very useful tools and can be helpful for understanding the growth pattern and pathogenesis of congenital diseases. In addition, disease-specific growth charts allow doctors to detect deviations from the usual growth patterns for early diagnosis of an additional condition and can be used to evaluate the effects of growth-promoting treatment for patients. When developing these charts, factors that can affect the reliability of the charts should be considered. These factors include the definition of the disease with growth failure, selection bias in the measurements used to develop the charts, secular trends of the subjects, the numbers of subjects of varying ages and ethnicities, and the statistical method used to develop the charts. In this review, we summarize the development of disease-specific growth charts for Japanese individuals with Turner syndrome and Noonan syndrome and evaluate the efforts to collect unbiased measurements of subjects with these diseases. These charts were the only available disease-specific growth charts of Turner syndrome and Noonan syndrome for Asian populations and were developed using a Japanese population. Therefore, when these charts are adopted for Asian populations other than Japanese, different growth patterns should be considered.

Development of disease-specific growth charts in Turner syndrome and Noonan syndrome.

Science.gov (United States)

Isojima, Tsuyoshi; Yokoya, Susumu

2017-12-01

Many congenital diseases are associated with growth failure, and patients with these diseases have specific growth patterns. As the growth patterns of affected individuals differ from those of normal populations, it is challenging to detect additional conditions that can influence growth using standard growth charts. Disease-specific growth charts are thus very useful tools and can be helpful for understanding the growth pattern and pathogenesis of congenital diseases. In addition, disease-specific growth charts allow doctors to detect deviations from the usual growth patterns for early diagnosis of an additional condition and can be used to evaluate the effects of growth-promoting treatment for patients. When developing these charts, factors that can affect the reliability of the charts should be considered. These factors include the definition of the disease with growth failure, selection bias in the measurements used to develop the charts, secular trends of the subjects, the numbers of subjects of varying ages and ethnicities, and the statistical method used to develop the charts. In this review, we summarize the development of disease-specific growth charts for Japanese individuals with Turner syndrome and Noonan syndrome and evaluate the efforts to collect unbiased measurements of subjects with these diseases. These charts were the only available disease-specific growth charts of Turner syndrome and Noonan syndrome for Asian populations and were developed using a Japanese population. Therefore, when these charts are adopted for Asian populations other than Japanese, different growth patterns should be considered.

Horseshoe kidney with growth retardation: Don't forget Turner syndrome.

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Arslansoyu-Çamlar, Seçil; Soylu, Alper; Abacı, Ayhan; Türkmen, Mehmet Atilla; Ülgenalp, Ayfer; Kavukçu, Salih

2016-01-01

Horseshoe kidney is the most frequent renal fusion anomaly that is usually asymptomatic and isolated malformation. However it can be seen with various syndromes and chromosomal anomalies. It was reported that 15-35% of Turner syndrome cases (TS) also display horseshoe kidney condition. TS is a chromosomal anomaly that had been characterized by delayed puberty, short body height and gonadal dysgenesis. In this report a five-year-old girl with horseshoe kidney, which has growth retardation during follow-up as only symptom of Turner syndrome.

[Human growth hormone and Turner syndrome].

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Sánchez Marco, Silvia Beatriz; de Arriba Muñoz, Antonio; Ferrer Lozano, Marta; Labarta Aizpún, José Ignacio; Garagorri Otero, Jesús María

2017-02-01

The evaluation of clinical and analytical parameters as predictors of the final growth response in Turner syndrome patients treated with growth hormone. A retrospective study was performed on 25 girls with Turner syndrome (17 treated with growth hormone), followed-up until adult height. Auxological, analytical, genetic and pharmacological parameters were collected. A descriptive and analytical study was conducted to evaluate short (12 months) and long term response to treatment with growth hormone. A favourable treatment response was shown during the first year of treatment in terms of height velocity gain in 66.6% of cases (height-gain velocity >3cm/year). A favourable long-term treatment response was also observed in terms of adult height, which increased by 42.82±21.23cm (1.25±0.76 SDS), with an adult height gain of 9.59±5.39cm (1.68±1.51 SDS). Predictors of good response to growth hormone treatment are: A) initial growth hormone dose, B) time on growth hormone treatment until starting oestrogen therapy, C) increased IGF1 and IGFBP-3 levels in the first year of treatment, and D) height gain velocity in the first year of treatment. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Chiari I malformation associated with turner syndrome

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Kamble Jayaprakash Harsha

2017-01-01

Full Text Available Turner syndrome (TS is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention. We report a 12-year-old child presenting with typical cough headache. Her magnetic resonance imaging revealed Chiari I malformation associated with TS. To the best of our knowledge, Chiari I malformation associated with TS is not described in literature. We report the first case of TS associated with Chiari I malformation. Interestingly, Chiari I malformation is also associated with Noonan's syndrome, which is a close morphological mimicker of TS, raising the possibility of sharing similar pathogenesis in both conditions.

Health-related quality of life among children with Turner syndrome: controlled cross-sectional study.

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Amedro, Pascal; Tahhan, Nabil; Bertet, Helena; Jeandel, Claire; Guillaumont, Sophie; Mura, Thibault; Picot, Marie-Christine

2017-08-28

The aim of the study was to assess health-related quality of life (HR-QoL) in children with Turner syndrome in comparison with controls. We prospectively recruited 16 female girls with Turner syndrome (mean age 15.2±2.6 years) and 78 female controls (mean age 12.7±2.8 years) in randomly selected schools. We used the PedsQL, a generic HR-QoL questionnaire (self and parents' versions). Global HR-QoL scores in Turner syndrome were lower than controls for self-reports (respectively, 74.3±3.0 vs. 82.8±1.3, p=0.01) and parents' reports (62.7±3.8 vs. 80.1±1.7, pTurner syndrome, self-reported HR-QoL was impaired in school functioning (70.6±4.0 vs. 80.71±1.7, p=0.02), social functioning (78.2±4.0 vs. 90.4±1.8, pTurner syndrome, as in previously reported adult studies. In addition to medical treatment and routine clinical follow-up, female girls and teenagers with Turner syndrome should also be supported psychologically by social, educational and psychotherapeutic interventions that aim to address their self-esteem and emotional difficulties.

Obstetric and neonatal outcome after oocyte donation in 106 women with Turner syndrome

DEFF Research Database (Denmark)

Hagman, Anna; Loft, Anne; Wennerholm, Ulla-Britt

2013-01-01

What are the obstetric and neonatal outcomes of deliveries after oocyte donation (OD) in women with Turner syndrome (TS)?......What are the obstetric and neonatal outcomes of deliveries after oocyte donation (OD) in women with Turner syndrome (TS)?...

FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

DEFF Research Database (Denmark)

Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne

2010-01-01

Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function....

Turner Syndrome and Its Variants

Directory of Open Access Journals (Sweden)

Semra Gürsoy

2017-12-01

Full Text Available Turner syndrome (TS is a genetic disorder which is characterized by the complete or partial absence of the X chromosome. The incidence is 1/2500 female live births. The main clinical findings are short stature, primary amenorrhea and infertility, and phenotypical features include webbed neck, a low posterior hairline, cubitus valgus and shortening of the fourth metacarpal. While 1% of all still births have 45,X monosomy, this rate has been reported to be approximately 10% in spontaneous abortions. The karyotype is determined as 45,X in about half of the patients. Therefore, most of the TS fetuses are considered to end in spontaneous abortion and only mosaic cases survive to term. Isochromosome Xq is the most common structural rearrangement of the X chromosome. Furthermore, ring X chromosome, deletions and Y chromosome abnormalities can be detected in patients with TS.

Gradually increasing ethinyl estradiol for Turner syndrome may produce good final height but not ideal BMD.

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Hasegawa, Yukihiro; Ariyasu, Daisuke; Izawa, Masako; Igaki-Miyamoto, Junko; Fukuma, Mami; Hatano, Megumi; Yagi, Hiroko; Goto, Masahiro

2017-02-27

Estrogen replacement therapy in Turner syndrome should theoretically mimic the physiology of healthy girls. The objective of this study was to describe final height and bone mineral density (BMD) in a group of 17 Turner syndrome patients (group E) who started their ethinyl estradiol therapy with an ultra-low dosage (1-5 ng/kg/day) from 9.8-13.7 years. The subjects in group E had been treated with GH 0.35 mg/kg/week since the average age of 7.4 years. The 30 subjects in group L, one of the historical groups, were given comparable doses of GH, and conjugated estrogen 0.3125 mg/week ∼0.3125 mg/day was initiated at 12.2-18.7 years. The subjects in group S, the other historical group, were 21 patients who experienced breast development and menarche spontaneously. Final height (height gain Turner syndrome. The final height in group L was 148.5 ± 3.0 cm with a SD of 1.30 ± 0.55, which was significantly different from the values for group E. The volumetric BMD of group S (0.290 ± 0.026 g/cm 3 ) was significantly different from that of group L or E (0.262 or 0.262 g/cm 3 as a mean, respectively). This is the first study of patients with Turner syndrome where estrogen was administered initially in an ultra-low dose and then increased gradually. Our estrogen therapy in group E produced good final height but not ideal BMD.

Delayed ß-cell response and glucose intolerance in young women with Turner syndrome

DEFF Research Database (Denmark)

Hjerrild, Britta Eilersen; Holst, Jens Juul; Juhl, Claus

2011-01-01

BACKGROUND: To investigate glucose homeostasis in detail in Turner syndrome (TS), where impaired glucose tolerance (IGT) and type 2 diabetes are frequent. METHODS: Cross sectional study of women with Turner syndrome (TS)(n = 13) and age and body mass index matched controls (C) (n = 13), evaluated...

Cytogenetics findings at Turner Syndrome and their correlation with clinical findings

Directory of Open Access Journals (Sweden)

Amra Ćatović

2005-08-01

Full Text Available Turner Syndrome is a genetic condition in females that results from an abnormal chromosome. One of the X chromosomes is missing or misshapen in the most cells of the body. Three classics clinical symptoms of the syndrome are: incomplete sexual maturation, short stature and pterygium colli. Turner Syndrome is diagnosed by karyotyping. In the retrospective study for a twelve years period (1991-2002 correlation between clinical and cytogenetics findings was established in our Center among 47 examinees from all parts of Federation of Bosnia and Herzegovina, who had suspect clinical diagnosis of Turner Syndrome. The syndrome was demonstrated by cytogeneticsexaminations in 30(63,8% examinees and excluded in 17 (36,2% examinees. The most frequent karyotype is monosomy of X chromosome (45,X found at 63,3%, than isochromosome of Xq (46,XisoXq found at 16,7%, mosaic form (46,XX/45,X and deletion of Xp (46,XdelXp both at 6,7%, than deletion of Xq (46,XdelXq and ring of Xp (46,XX/46,XringXp both at 3,3%. Our results suggest that promptly and exactly diagnosis of Turner syndrome is very important due to introducing growth hormone therapy and estrogen therapy at a very young age.

An intriguing association of Turner syndrome with severe nephrotic syndrome: searching for a diagnosis.

Science.gov (United States)

Minzala, G; Ismail, G

2016-10-01

Systemic lupus erythematosus (SLE) is a chronic disease caused by an aberrant autoimmune response, with a large spectrum of clinical manifestations. It strikingly affects women. Recent papers reveal that the men with Klinefelter syndrome (47, XXY) have a higher incidence of lupus than the men in the general population, similar with that of genotypic females. On the other hand, there is a great lack of information regarding the association of SLE with Turner syndrome, but it seems to be a lower risk for females with Turner to develop SLE. We present a rare association of a Turner syndrome with SLE, with negative immunology for SLE and with diagnosis made on renal biopsy. These data suggest that the presence of two X chromosomes may predispose to SLE, the ligand (CD40 ligand) for one of the genes that contributes to the pathogenesis of SLE being located on the X chromosome. © The Author(s) 2016.

Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.

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Bouchlariotou, Sofia; Tsikouras, Panagiotis; Dimitraki, Marina; Athanasiadis, Apostolos; Papoulidis, Ioannis; Maroulis, George; Liberis, Anastasios; Liberis, Vasileios

2011-05-01

Turner's syndrome is characterized by an ovarian failure which occurs in most cases before puberty and leads to infertility. In less than 10% of women with Turner syndrome, puberty may occur and spontaneous pregnancies is possible but with a high risk of fetal loss, chromosomal and congenital abnormalities. We present the case of a 33-year-old woman with a mosaic Turner's syndrome karyotype 45,X/47,XXX who conceived spontaneously and had two successful pregnancies. Short stature was the only manifestation of Turner's syndrome. In the present report, we reviewed the available literature on the fertility of women with Turner's syndrome and the phenotypic effects of mosaicism for a 47,XXX cell line in Turner's syndrome.

Quantitative liver functions in Turner syndrome with and without hormone replacement therapy

DEFF Research Database (Denmark)

Gravholt, Claus Højbjerg; Poulsen, H.E.; Ott, Peter

2007-01-01

Studies have documented elevated levels of liver enzymes in many females with Turner syndrome (TS). Histology has shown a range of changes. Treatment with female hormone replacement therapy (HRT) reduces liver enzymes.......Studies have documented elevated levels of liver enzymes in many females with Turner syndrome (TS). Histology has shown a range of changes. Treatment with female hormone replacement therapy (HRT) reduces liver enzymes....

Fertility Preservation in Women with Turner Syndrome: A Comprehensive Review and Practical Guidelines.

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Oktay, Kutluk; Bedoschi, Giuliano; Berkowitz, Karen; Bronson, Richard; Kashani, Banafsheh; McGovern, Peter; Pal, Lubna; Quinn, Gwendolyn; Rubin, Karen

2016-10-01

In this article we review the existing fertility preservation options for women diagnosed with Turner syndrome and provide practical guidelines for the practitioner. Turner syndrome is the most common sex chromosome abnormality in women, occurring in approximately 1 in 2500 live births. Women with Turner syndrome are at extremely high risk for primary ovarian insufficiency and infertility. Although approximately 70%-80% have no spontaneous pubertal development and 90% experience primary amenorrhea, the remainder might possess a small residual of ovarian follicles at birth or early childhood. The present challenge is to identify these women as early in life as is possible, to allow them to benefit from a variety of existing fertility preservation options. To maximize the benefits of fertility preservation, all women with Turner syndrome should be evaluated by an expert as soon as possible in childhood because the vast majority will have their ovarian reserve depleted before adulthood. Cryopreservation of mature oocytes and embryos is a proven fertility preservation approach, and cryopreservation of ovarian tissue is a promising technique with a growing number of live births, but remains investigational. Oocyte cryopreservation has been performed in children with Turner syndrome as young as 13 years of age and ovarian tissue cryopreservation in affected prepubertal children. However, current efficacy of these approaches is unknown in this cohort. For those who have already lost their ovarian reserve, oocyte or embryo donation and adoption are strategies that allow fulfillment of the desire for parenting. For those with Turner syndrome-related cardiac contraindications to pregnancy, use of gestational surrogacy allows the possibility of biological parenting using their own oocytes. Alternatively, gestational surrogacy can serve to carry pregnancy resulting from the use of donor oocytes or embryos, if needed. Copyright © 2016 North American Society for Pediatric and

Fertility Preservation in Females with Turner Syndrome: A Comprehensive Review and Practical Guidelines

Science.gov (United States)

Oktay, K; Bedoschi, G; Berkowitz, K; Bronson, R; Kashani, B; McGovern, P; Pal, L; Quinn, G; Rubin, K

2016-01-01

This article reviews the existing fertility preservation options for females diagnosed with Turner syndrome and provides practical guidelines for the practitioner. Turner syndrome is the most common sex chromosome abnormality in females, occurring in approximately one in 2500 live births. Women with Turner syndrome are at extremely high risk for primary ovarian insufficiency (POI) and infertility. Although about 70–80% have no spontaneous pubertal development and 90% experience primary amenorrhea, the remainder may possess a small residual of ovarian follicles at birth or early childhood. The present challenge is to identify these women as early in life as is possible, so as to allow them to benefit from a variety of existing fertility preservation options. To maximize the benefits of fertility preservation, all women with Turner syndrome should be evaluated by an expert as soon as possible in childhood as the vast majority will have their ovarian reserve depleted before adulthood. Cryopreservation of mature oocytes and embryos is a proven fertility preservation approach, while cryopreservation of ovarian tissue is a promising technique with a growing number of live births, but remain investigational. Oocyte cryopreservation has been performed in children with Turner syndrome as young as 13 and ovarian tissue cryopreservation in prepubertal children affected. However, current efficacy of these approaches is unknown in this cohort.. For those who have already lost their ovarian reserve, oocyte or embryo donation and adoption are strategies that allow fulfillment of desire for parenting. For those with Turner syndrome related cardiac contraindications to pregnancy, utilization of gestational surrogacy allows the possibility of biological parenting by using their own oocytes. Alternatively, gestational surrogacy can serve to carry pregnancy resulting from the use of donor oocytes or embryos, if needed. PMID:26485320

Pseudohypoparathyroidism with Hashimoto's thyroiditis and Turner syndrome: a case report.

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Zeng, Wen-Heng; Xu, Jiao-Jun; Jia, Min-Yue; Ren, Yue-Zhong

2014-10-01

To report the case of an individual with PHP, Turner syndrome and Hashimoto's thyroiditis. A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature. Radiography indicated short metatarsals and metacarpals, which mainly affected the second, third and fourth digits. Biochemistry revealed hyperphosphatemia, increased serum concentrations of parathyroid hormone and thyroid stimulating hormone, elevated levels of follicular-stimulating hormone and prolactin, and increased thyroid peroxidase antibody and thyroglobulin antibody. Radiographic examination revealed delayed bone age and pelvic ultrasonography demonstrated an immature uterus. Karyotype analysis showed 46,X,i(Xq10), while molecular analysis revealed a same sense mutation in exon 5 of GNAS (ATC → ATT, Ile).The specific diagnosis was made of Turner syndrome in the presence of Hashimoto's thyroiditis and PHP. She was treated with calcium supplementation, calcitriol and thyroxine. This is the first case report to describe a combination of Turner syndrome with these other clinical entities, and their co-existence should be considered and further investigated.

Math Learning Disability and Math LD Subtypes: Evidence from Studies of Turner Syndrome, Fragile X Syndrome, and Neurofibromatosis Type 1.

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Mazzocco, Michele M. M.

2001-01-01

This study examined whether indicators of math learning disability were observed in 35 5- and 6-year-olds with either neurofibromatosis, Turner Syndrome, or fragile X syndrome and compared to controls. Findings indicate that girls with fragile X or Turner syndrome but not neurofibromatosis are significantly more likely to have specific math…

PSYCHOSOCIAL EFFECTS OF 2 YEARS OF HUMAN GROWTH-HORMONE TREATMENT IN TURNER SYNDROME

NARCIS (Netherlands)

SLIJPER, FME; SINNEMA, G; AKKERHUIS, GW; BRUGMANBOEZEMAN, A; FEENSTRA, J; DENHARTOG, L; HEUVEL, F

1993-01-01

Thirty-eight girls with Turner syndrome were treated for 2 years with human growth hormone. Both parents and patients carried out assessments of the effects of treatment on various aspects of psychosocial functioning. The children used the Piers-Harris Self-Concept Scale and the Social Anxiety Scale

Turner Syndrome: Neuroimaging Findings--Structural and Functional

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Mullaney, Ronan; Murphy, Declan

2009-01-01

Neuroimaging studies of Turner syndrome can advance our understanding of the X chromosome in brain development, and the modulatory influence of endocrine factors. There is increasing evidence from neuroimaging studies that TX individuals have significant differences in the anatomy, function, and metabolism of a number of brain regions; including…

During childhood unrecognized congenital heart defect in patient with Turner syndrome, and its implications

International Nuclear Information System (INIS)

Klaskova, E.; Kapralova, S.; Zapletalova, J.; Tuedoes, Z.

2015-01-01

Congenital heart disease affects approximately 50 % of individuals with Turner syndrome (TS). Bicuspid aortic valve, aortic coarctation, ascending aorta dilatation and arterial hypertension are important risk factors for life-threatening aortic dissection or rupture. Authors discuss the importance of a careful cardiac examination including cardiac magnetic resonance imaging study and life-long follow-up by experienced cardiologist in TS patients, and point out high maternal mortality and morbidity during pregnancy. They present a case report of woman with TS and the above-mentioned in childhood unrecognized congenital heart defects that underwent infertility treatment without pre conceptional counselling focused on cardiovascular risk for aortic dissection. (author)

[Turner syndrome in adulthood: the need for multidisciplinary care

NARCIS (Netherlands)

Freriks, K.; Beerendonk, C.C.M.; Timmermans, J.; Braat, D.D.M.; Hermus, A.R.M.M.; Timmers, H.J.L.M.

2007-01-01

Turner syndrome is the result of the complete or partial absence of one X-chromosome. As well as short stature and gonadal dysgenesis, a wide range of abnormalities which may not present themselves until adulthood, are seen in nearly every organ system. Adult women with this syndrome have a reduced

Improved Spatial Ability Correlated with Left Hemisphere Dysfunction in Turner's Syndrome. Implications for Mechanism.

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Rovet, Joanne F.

This study contrasts the performance of a 17-year-old female subject with Turner's syndrome before and after developing left temporal lobe seizures, as a means of identifying the mechanism responsible for the Turner's syndrome spatial impairment. The results revealed a deficit in spatial processing before onset of the seizure disorder. Results…

Mathematics Learning Disability in Girls with Turner Syndrome or Fragile X Syndrome

Science.gov (United States)

Murphy, Melissa M.; Mazzocco, Michele M. M.; Gerner, Gwendolyn; Henry, Anne E.

2006-01-01

Two studies were carried out to examine the persistence (Study 1) and characteristics (Study 2) of mathematics learning disability (MLD) in girls with Turner syndrome or fragile X during the primary school years (ages 5-9 years). In Study 1, the rate of MLD for each syndrome group exceeded the rate observed in a grade-matched comparison group,…

Increasing School Nurse Awareness of Turner Syndrome

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Ardary, Darlene A.

2007-01-01

Turner syndrome, a genetic disorder that affects only females, can cause various physical, emotional, and educational disabilities. This disorder may go undiagnosed until school age or later. Short stature and lack of spontaneous puberty are common characteristics and can lead to teasing by peers. Some experience attention deficit and the…

Measured parental height in Turner syndrome-a valuable but underused diagnostic tool.

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Ouarezki, Yasmine; Cizmecioglu, Filiz Mine; Mansour, Chourouk; Jones, Jeremy Huw; Gault, Emma Jane; Mason, Avril; Donaldson, Malcolm D C

2018-02-01

Early diagnosis of Turner syndrome (TS) is necessary to facilitate appropriate management, including growth promotion. Not all girls with TS have overt short stature, and comparison with parental height (Ht) is needed for appropriate evaluation. We examined both the prevalence and diagnostic sensitivity of measured parental Ht in a dedicated TS clinic between 1989 and 2013. Lower end of parental target range (LTR) was calculated as mid-parental Ht (correction factor 12.5 cm minus 8.5 cm) and converted to standard deviation scores (SDS) using UK 1990 data, then compared with patient Ht SDS at first accurate measurement aged > 1 year. Information was available in 172 girls of whom 142 (82.6%) were short at first measurement. However, both parents had been measured in only 94 girls (54.6%). In 92 of these girls age at measurement was 6.93 ± 3.9 years, Ht SDS vs LTR SDS - 2.63 ± 0.94 vs - 1.77 ± 0.81 (p Turner syndrome are short in relation to parental heights, with untreated final height approximately 20 cm below female population mean. • Measured parental height is more accurate than reported height. What is New: • In a dedicated Turner clinic, there was 85% sensitivity when comparing patient height standard deviation score at first accurate measurement beyond 1 year of age with the lower end of the parental target range standard deviation. • However, measured height in both parents had been recorded in only 54.6% of the Turner girls attending the clinic. This indicates the need to improve the quality of growth assessment in tertiary care.

Physical fitness of schoolgirls with Turner syndrome

NARCIS (Netherlands)

Milde, K.; Tomaszewski, P.K.; Stupnicki, R.

2013-01-01

The aim of the study was to assess physical fitness of girls with Turner syndrome (TS) and to determine the relative contributions of age, body height, and body mass to performance in fitness tests. Girls with TS aged 10-18 years (n = 184), and age- and stature-matched healthy controls (n = 280)

Endotelium in Turner syndrome with capillaroscopy Endotélio na síndrome de Turner com capilaroscopia

Directory of Open Access Journals (Sweden)

Simone Cristina da Silva Coelho

2011-06-01

Full Text Available OBJECTIVE: The aim of this study was to assess the endothelium function in patients with Turner syndrome using videocapillaroscopy and to compare the results with healthy control. METHODS: Subjects and controls were studied in a temperature-controlled room, 20 days after no nailfold manipulations. The capillaries were visualized by a microscope connected to a television and a computer. The test of post-occlusive reactive hyperemia was performed using a sphygmomanometer attached to the fourth left finger, 20mmHg above maximum arterial pressure during 1 minute, and the following patterns were studied: area of transverse segment, maximal post-ischemia area and time to reach maximal post-ischemia area. RESULTS: The value of measure of transverse segment projected area , the maximal postischemia area of hand nailfold capillary loops using computerized videophotometry and the time to reach maximal post ischemia area were studied in 40 patients with Turner syndrome and 26 healthy women controls of comparable age (20±7.5 versus 18±8.1 years old; p=0.57. There were differences between transverse segment area (706.8±139.1 versus 548.8±117.2; p=0.001. Maximal post-ischemia area (891.3±226.1 versus 643.5±134.3; p=0.001 and the time to reach it (10.8±4.3 versus 5.5±2.5; p=0.001 were different between patients and controls. CONCLUSIONS: Changes of capillary response to ischemia could be observed in patients with Turner syndrome using videocapillaroscopy when they were compared to a healthy control group.OBJETIVOS: O objetivo deste estudo foi avaliar a função endotelial de pacientes com síndrome de Turner, utilizando a videocapilaroscopia e comparar os resultados com grupo controle saudável. MÉTODOS: Pacientes e controles foram estudados em sala com temperatura controlada, após 20 dias, sem a manipulação das cutículas. Os capilares foram visualizados por microscópio conectado a televisão e computador. O teste de hiperemia reativa p

Growth Curves for Girls with Turner Syndrome

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Fabio Bertapelli

2014-01-01

Full Text Available The objective of this study was to review the growth curves for Turner syndrome, evaluate the methodological and statistical quality, and suggest potential growth curves for clinical practice guidelines. The search was carried out in the databases Medline and Embase. Of 1006 references identified, 15 were included. Studies constructed curves for weight, height, weight/height, body mass index, head circumference, height velocity, leg length, and sitting height. The sample ranged between 47 and 1,565 (total = 6,273 girls aged 0 to 24 y, born between 1950 and 2006. The number of measures ranged from 580 to 9,011 (total = 28,915. Most studies showed strengths such as sample size, exclusion of the use of growth hormone and androgen, and analysis of confounding variables. However, the growth curves were restricted to height, lack of information about selection bias, limited distributional properties, and smoothing aspects. In conclusion, we observe the need to construct an international growth reference for girls with Turner syndrome, in order to provide support for clinical practice guidelines.

The Psychoeducational Characteristics of Children with Turner Syndrome.

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Rovet, Joanne F.

1993-01-01

This study compared psychoeducational characteristics of 67 children (ages 6-16) with Turner syndrome and 27 nonaffected controls. Subjects exhibited selective impairments in visuospatial and memory areas; significant underachievement in arithmetic; poor social competence; and increased behavior problems, particularly in the area of hyperactivity.…

Clinical care of adult Turner syndrome--new aspects

DEFF Research Database (Denmark)

Trolle, Christian; Mortensen, Kristian Havmand; Hjerrild, Britta E

2012-01-01

Turner syndrome (TS) is characterized by numerous medical challenges during adolescence and adulthood. Puberty has to be induced in most cases, and female sex hormone replacement therapy (HRT) should continue during adult years. These issues are normally dealt with by the paediatrician, but once...

Osteoprotegerin in Turner syndrome - relationship to aortic diameter

DEFF Research Database (Denmark)

Trolle, Christian; Mortensen, Kristian Havmand; Bjerre, Mette

2015-01-01

BACKGROUND: Cardiovascular disease is a cardinal trait of Turner syndrome (TS), causing half of the 3-fold excess mortality. Since osteoprotegerin (OPG) is as a potential biomarker of cardiovascular disease, this cross-sectional and prospective study aimed at elucidating OPG levels in TS and its...

Pilot Study of Blood Pressure in Girls With Turner Syndrome: An Awareness Gap, Clinical Associations, and New Hypotheses.

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Los, Evan; Quezada, Emilio; Chen, Zunqiu; Lapidus, Jodi; Silberbach, Michael

2016-07-01

Cardiovascular disease is the major factor that reduces lifespan in Turner syndrome. High blood pressure (BP) is common in Turner syndrome and is the most easily treatable cardiovascular risk factor. We studied the prevalence of elevated screening systemic BP, awareness of the problem, and its clinical associations in a large group of girls attending the annual meeting of the Turner Syndrome Society of the United States. Among 168 girls aged 2 to 17 years, 42% had elevated screening BP (systolic and diastolic), yet only 8% reported a previous diagnosis of hypertension. History of aortic coarctation repair (17%) was positively associated with elevated systolic BP (52% versus 32%; PTurner syndrome phenotype/genotype probably includes an intrinsic risk for hypertension. Obesity and repaired aortic coarctation increase this risk further. There seems to be a BP awareness gap in girls with Turner syndrome. Because girls living with Turner syndrome are a sensitized population for hypertension, further study may provide clues to genetic factors leading to a better understanding of essential hypertension in the general population. © 2016 American Heart Association, Inc.

Increased prevalence of autoimmunity in Turner syndrome

DEFF Research Database (Denmark)

Mortensen, K H; Cleemann, L; Hjerrild, B E

2009-01-01

and karyotype. In conclusion, TS girls and women face a high prevalence of autoimmunity and associated disease with a preponderance towards hypothyroidism and CD. Thus, health care providers dealing with this patient group should be observant and test liberally for these conditions even before clinical symptoms......Individuals with Turner syndrome (TS) are prone to develop autoimmune conditions such as coeliac disease (CD), thyroiditis and type 1 diabetes (T1DM). The objective of the present study was to examine TS of various karyotypes for autoantibodies and corresponding diseases. This was investigated...... hypothyroid. Overall, 18% (19) presented with CD autoantibodies, of whom 26% (five) had CD. Anti-TPO and CD autoantibodies co-existed in 9% (10). Immunoglobulin A deficiency was found in 3% (three) of patients, who all had CD autoantibodies without disease. Among four patients with anti-GAD-65 none had T1DM...

Karyotype-specific ear and hearing problems in young adults with turner syndrome and the effect of oxandrolone treatment

NARCIS (Netherlands)

Verver, E.J.; Freriks, K.; Sas, T.C.J.; Huygen, P.L.M.; Pennings, R.J.E.; Smeets, D.F.C.M.; Hermus, A.R.M.M.; Menke, L.A.; Wit, J.M.; Otten, B.J.; Velden, J.A.M. van der; Keizer-Schrama, S.M.; Topsakal, V.; Admiraal, R.J.C.; Timmers, H.J.L.M.; Kunst, H.P.M.

2014-01-01

OBJECTIVE: To evaluate karyotype-specific ear and hearing problems in young-adult patients with Turner syndrome (TS) and assess the effects of previous treatment with oxandrolone (Ox). STUDY DESIGN: Double-blind follow-up study. SETTING: University hospital. PATIENTS: Sixty-five TS patients (mean

Cholesteatoma has a high prevalence in Turner syndrome, highlighting the need for earlier diagnosis and the potential benefits of otoscopy training for paediatricians.

Science.gov (United States)

Lim, D B N; Gault, E J; Kubba, H; Morrissey, M S C; Wynne, D M; Donaldson, M D C

2014-07-01

Girls with Turner syndrome are prone to cholesteatoma, a serious suppurative middle ear disease. We aimed to confirm its high prevalence in Turner syndrome, identify risk factors and suggest possible strategies for earlier detection. We reviewed 179 girls with Turner syndrome between 1989 and 2012 to identify cases of cholesteatoma. Seven girls (3.9%) had cholesteatoma (index girls) and each was compared with three age-matched girls without cholesteatoma (comparison girls). All the index girls had either the 45,X or 45,X/46X,i(Xq) karyotypes. Nine ears were initially affected, with three recurrences in two girls. Median age at first cholesteatoma presentation was 11.9 years (range: 7.5-15.2), with otorrhoea for three (range: one to seven) months in all 12 affected ears. Index girls had a significantly higher proportion of previous recurrent acute (p = 0.007) and chronic otitis media (p = 0.008), chronic perforation (p = 0.038) aural polyps (p Turner syndrome. Risk factors include 45,X and 46,XiXq karyotypes; a history of chronic otitis media, tympanic membrane retraction and persistent otorrhoea; and older age. Earlier recognition of ear disease is needed and otoscopy training for paediatricians caring for Turner syndrome patients may be beneficial. ©2014 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

Wish to conceive and concerns to develop cardiovascular complications during pregnancy in patients with Turner syndrome

NARCIS (Netherlands)

van Hagen, Iris M.; Duijnhouwer, Anthonie L.; ten Kate-Booij, Marianne J.; Dykgraaf, Ramon H. M.; Duvekot, Johannes J.; Utens, Elisabeth M. W. J.; Roos-Hesselink, Jolien W.

2017-01-01

Turner syndrome (TS) is associated with subfertility and infertility. Nevertheless, an increasing number of women become pregnant through oocyte donation. The wish to conceive may be negatively influenced by the fear of cardiovascular complications. The aim was to investigate the wish to conceive

Perturbed sympatho-vagal balance in Turner syndrome - relation to aortic dilation

DEFF Research Database (Denmark)

Trolle, Christian; Mortensen, Kristian Havmand; Andersen, Niels Holmark

Objective: The risk of aortic dissection is 100 fold increased in Turner syndrome (TS). Increased blood pressure (BP) and heart rate is present as well as an increased risk of ischemic heart disease and diabetes. This study aimed to prospectively assess heart rate variability (HRV) in TS and its...... relation to aortic dimensions. Methods: Adults with TS (n=91, aged 37.4±10.4 years) recruited through the Danish National Society of Turner Syndrome Contact Group and an endocrine outpatient clinic were examined thrice (mean follow-up of 4.7±0.5 years). Healthy controls (n=64, aged 39.4±12.1 years) were...

Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism.

Science.gov (United States)

Dragović, Tamara; Đuran, Zorana; Jelić, Svetlana; Marinković, Dejan; Kiković, Saša; Kuzmić-Janković, Snežana; Hajduković, Zoran

2016-10-01

Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH) secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.

Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism

Directory of Open Access Journals (Sweden)

Dragović Tamara

2016-01-01

Full Text Available Introduction. Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. Case report. We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Conclusion. Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.

Arousal Modulation in Females with Fragile X or Turner Syndrome

Science.gov (United States)

Roberts, Jane; Mazzocco, Michele M. M.; Murphy, Melissa M.; Hoehn-Saric, Rudolf

2008-01-01

The present study was carried out to examine physiological arousal modulation (heart activity and skin conductance), across baseline and cognitive tasks, in females with fragile X or Turner syndrome and a comparison group of females with neither syndrome. Relative to the comparison group, for whom a greater increase in skin conductance was…

Normal tempo of bone formation in Turner syndrome despite signs of accelerated bone resorption

DEFF Research Database (Denmark)

Cleemann, Line Hartvig; Holm, Kirsten Bagge; Kobbernagel, Hanne

2011-01-01

Aims: To evaluate area bone mineral density (aBMD) and volumetric BMD (vBMD) by dual-energy X-ray absorptiometry, and relations to bone markers and hormones in adolescent women with Turner syndrome (TS). Methods: Cross-sectional study in TS patients (n = 37, 16.7 ± 3.4 years) and control group (n...

Normal Tempo of Bone Formation in Turner Syndrome despite Signs of Accelerated Bone Resorption

DEFF Research Database (Denmark)

Cleemann, Line; Holm, Kirsten; Kobbernagel, Hanne

2011-01-01

Aims: To evaluate area bone mineral density (aBMD) and volumetric BMD (vBMD) by dual-energy X-ray absorptiometry, and relations to bone markers and hormones in adolescent women with Turner syndrome (TS). Methods: Cross-sectional study in TS patients (n = 37, 16.7 ± 3.4 years) and control group (n...

Mathematical Learning Disability in Girls with Turner Syndrome: A Challenge to Defining MLD and Its Subtypes

Science.gov (United States)

Mazzocco, Michele M. M.

2009-01-01

Turner syndrome is a common disorder with a prevalence of 1:2,500 live female births. Although not associated with mental retardation, there is an increased risk of learning difficulties in this population. In particular, mathematical learning difficulties among girls with Turner syndrome are prevalent, significant, and persistent. As such, the…

Numerical Magnitude Processing Impairments in Genetic Syndromes: A Cross-Syndrome Comparison of Turner and 22Q11.2 Deletion Syndromes

Science.gov (United States)

Brankaer, Carmen; Ghesquière, Pol; De Wel, Anke; Swillen, Ann; De Smedt, Bert

2017-01-01

Cross-syndrome comparisons offer an important window onto understanding heterogeneity in mathematical learning disabilities or dyscalculia. The present study therefore investigated symbolic numerical magnitude processing in two genetic syndromes that are both characterized by mathematical learning disabilities: Turner syndrome and 22q11.2 deletion…

Aortic dimensions in girls and young women with turner syndrome: a magnetic resonance imaging study

DEFF Research Database (Denmark)

Cleemann, Line; Mortensen, Kristian H; Holm, Kirsten

2010-01-01

This study aimed to determine the dimensions of the thoracic aorta and the predictors of aortic dimensions in girls and young women with Turner syndrome (TS). A cross-sectional study was performed at a secondary care center. The study compared 41 TS patients with 50 healthy age-matched control...

Communication Problems in Turner Syndrome: A Sample Survey.

Science.gov (United States)

Van Borsel, John; Dhooge, Inge; Verhoye, Kristof; Derde, Kristel; Curfs, Leopold

1999-01-01

A survey of 128 females (ages 2-58) with Turner syndrome found almost one quarter were receiving or had received treatment for stuttering, articulation problems, and/or delayed language development, with the latter two disorders being checked most frequently. Only 4 or the 68 individuals receiving growth hormone treatment reported voice changes.…

Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group.

Science.gov (United States)

Bondy, Carolyn A

2007-01-01

The objective of this work is to provide updated guidelines for the evaluation and treatment of girls and women with Turner syndrome (TS). The Turner Syndrome Consensus Study Group is a multidisciplinary panel of experts with relevant clinical and research experience with TS that met in Bethesda, Maryland, April 2006. The meeting was supported by the National Institute of Child Health and unrestricted educational grants from pharmaceutical companies. The study group used peer-reviewed published information to form its principal recommendations. Expert opinion was used where good evidence was lacking. The study group met for 3 d to discuss key issues. Breakout groups focused on genetic, cardiological, auxological, psychological, gynecological, and general medical concerns and drafted recommendations for presentation to the whole group. Draft reports were available for additional comment on the meeting web site. Synthesis of the section reports and final revisions were reviewed by e-mail and approved by whole-group consensus. We suggest that parents receiving a prenatal diagnosis of TS be advised of the broad phenotypic spectrum and the good quality of life observed in TS in recent years. We recommend that magnetic resonance angiography be used in addition to echocardiography to evaluate the cardiovascular system and suggest that patients with defined cardiovascular defects be cautioned in regard to pregnancy and certain types of exercise. We recommend that puberty should not be delayed to promote statural growth. We suggest a comprehensive educational evaluation in early childhood to identify potential attention-deficit or nonverbal learning disorders. We suggest that caregivers address the prospect of premature ovarian failure in an open and sensitive manner and emphasize the critical importance of estrogen treatment for feminization and for bone health during the adult years. All individuals with TS require continued monitoring of hearing and thyroid function

Screening for celiac disease among patients with Turner syndrome in Brasília, DF, midwest region of Brazil Triagem para doença celíaca em pacientes com síndrome de Turner em Brasília, DF, região centro-oeste do Brasil

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Maria do Carmo Sorci Dias

2010-09-01

Full Text Available CONTEXT: Several studies have demonstrated a higher prevalence of celiac disease (CD among females with Turner syndrome when compared to the general population. Nevertheless, there is no record in literature concerning this investigation among Brazilian patients. OBJECTIVE: To assess the prevalence of CD among a group of Brazilian patients with Turner syndrome. METHODS: Fifty-six females with Turner syndrome and on gluten-containing diet were screened for CD utilizing immunoglobulin A antiendomysium (IgA-EMA and immunoglobulin A anti-tissue transglutaminase (IgA-tTG antibody assays. Additionally, they were genotyped for CD human leukocyte antigen (CD-HLA predisposing alleles. Patients showing positivity in serological testing were offered to perform small intestine biopsy for histological confirmation. RESULTS: Mean age at diagnosis of Turner syndrome was 5.5 ± 4.4 years; mean age at screening for CD was 17.0 ± 9.3 years (from 10 months of age to 52 years. Two girls were positive for IgA-EMA and IgA-tTG, presented predisposing HLA-DQ2 alleles and both had the diagnosis of CD confirmed by jejunal biopsy. CONCLUSION: The 3.6% prevalence of biopsy-proven CD among this group of females with Turner syndrome is 10 times higher than the one among females from the general population of the same geographical area. This result provides additional support to an association between these two disorders and restates that girls and women with Turner syndrome represent a high risk population for developing CD.CONTEXTO: Alguns estudos têm demonstrado maior prevalência de doença celíaca entre mulheres com síndrome de Turner, quando comparadas com a população geral. Entretanto, não há registro na literatura desta investigação em pacientes brasileiras. OBJETIVO: Avaliar a prevalência de doença celíaca entre um grupo de pacientes brasileiras com síndrome de Turner. MÉTODOS: Cinquenta e seis pacientes com síndrome de Turner recebendo dieta contendo

Turner syndrome: counseling prior to oocyte donation

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Ester Silveira Ramos

2007-03-01

Full Text Available Ovarian failure is a typical feature of Turner syndrome (TS. Patients are followed clinically with hormone replacement therapy (HRT and inclusion in the oocyte donation program, if necessary. For patients with spontaneous puberty, genetic counseling regarding preimplantation genetic diagnosis and prenatal diagnosis is indicated. Patients with dysgenetic gonads and a Y chromosome are at increased risk of developing gonadoblastoma. Even though this is not an invasive tumor, its frequent association with other malignant forms justifies prophylactic gonadectomy. It is important to perform gonadectomy before HRT and pregnancy with oocyte donation. Among patients with TS stigmata and female genitalia, many have the Y chromosome in one of the cell lines. For this reason, all patients should undergo cytogenetic analysis. Nevertheless, in cases of structural chromosomal alterations or hidden mosaicism, the conventional cytogenetic techniques may be ineffective and molecular investigation is indicated. The author proposes a practical approach for investigating women with TS stigmata in whom identification of the X or Y chromosome is important for clinical management and follow-up.

Neocentric X-chromosome in a girl with Turner-like syndrome

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Hemmat Morteza

2012-06-01

Full Text Available Abstract Background Neocentromeres are rare human chromosomal aberrations in which a new centromere has formed in a previously non-centromeric location. We report the finding of a structurally abnormal X chromosome with a neocentromere in a 15-year-old girl with clinical features suggestive of Turner syndrome, including short stature and primary amenorrhea. Result G-banded chromosome analysis revealed a mosaic female karyotype involving two abnormal cell lines. One cell line (84% of analyzed metaphases had a structurally abnormal X chromosome (duplication of the long arm and deletion of the short arm and a normal X chromosome. The other cell line (16% of cells exhibited monosomy X. C-banding studies were negative for the abnormal X chromosome. FISH analysis revealed lack of hybridization of the abnormal X chromosome with both the X centromere-specific probe and the “all human centromeres” probe, a pattern consistent with lack of the X chromosome endogenous centromere. A FISH study using an XIST gene probe revealed the presence of two XIST genes, one on each long arm of the iso(Xq, required for inactivation of the abnormal X chromosome. R-banding also demonstrated inactivation of the abnormal X chromosome. An assay for centromeric protein C (CENP-C was positive on both the normal and the abnormal X chromosomes. The position of CENP-C in the abnormal X chromosome defined a neocentromere, which explains its mitotic stability. The karyotype is thus designated as 46,X,neo(X(qter- > q12::q12- > q21.2- > neo- > q21.2- > qter[42]/45,X[8], which is consistent with stigmata of Turner syndrome. The mother of this patient has a normal karyotype; however, the father was not available for study. Conclusion To our knowledge, this is the first case of mosaic Turner syndrome involving an analphoid iso(Xq chromosome with a proven neocentromere among 90 previously described cases with a proven neocentromere.

Coats' disease, Turner syndrome, and von Willebrand disease in a patient with Wildtype Norrie disease pseudoglioma.

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Desai, Rajen U; Saffra, Norman A; Krishna, Rati P; Rosenberg, Steven E

2011-01-01

The authors describe a girl diagnosed as having Coats' disease, Turner syndrome (45X karyotype), and type 1 von Willebrand disease. She tested negative for the Norrie disease pseudoglioma (NDP) gene located on the X-chromosome, which has been suspected of contributing to Coats' disease. Copyright 2010, SLACK Incorporated.

Unusual association of turner syndrome and hypopituitarism in a Tunisian family.

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Bougacha-Elleuch, N; Elleuch, M; Charfi, N; Mnif, F; Belghith, N; Abdelhedi, F; Kammoun, H; Hachicha, M; Mnif, M; Abid, M

2016-01-01

Familial occurrence of either Turner syndrome or hypopituitarism is very rare. Particularly, their association is an uncommon finding. In this context, we describe for the first time 4 sisters with Turner syndrome, hypopituitarism was reported in three among them. Our cohort consists of four Tunisian adult sisters belonging to a consanguineous family. Biochemical analysis, resonance magnetic imaging and cytogenetic analyses were performed. Turner syndrome was diagnosed at the ages of 14, 17, 31 and 43 years in cases 1, 2, 3 and 4 respectively. They suffered from short stature, dysmorphic syndrome and/or delayed puberty. Interestingly, 3 among them showed also hypopituitarism, hypogonadotrophic hypogonadism and central hypothyroidism. Somatotropic insufficiency was proven in one case. Pituitary MRI has shown an empty sella turcica with hypoplastic pituitary gland in three cases. Their karyotypes were compatible with 45X in one case, 45X/46XX in the second and 45X/46XX/47XXY with x label in two cases. Hence, the presence of these familial cases of TS must evoke new etiopathogenetic arguments. Coincidence of hypopituitarism in this family, might suggest common genetic background for the two diseases. This particular family would be a precious tool for an extensive molecular analysis. More attention should be given to other family's members mainly in the presence of delayed puberty and sterility in other members. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Nocturnal hypertension and impaired sympathovagal tone in Turner syndrome

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Gravholt, Claus Højbjerg; Hansen, Klavs Würgler; Erlandsen, Mogens

2006-01-01

OBJECTIVE: Increased blood pressure (BP), night: day BP ratio, and heart rate is seen in Turner syndrome (TS), and an increased risk of ischaemic heart disease and type 2 diabetes, as well as aortic dilatation and dissection. We hypothesized that altered heart rate variability is present in TS...

Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner Syndrome.

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Sanjay Premi

Full Text Available Presence of the human Y-chromosome in females with Turner Syndrome (TS enhances the risk of development of gonadoblastoma besides causing several other phenotypic abnormalities. In the present study, we have analyzed the Y chromosome in 15 clinically diagnosed Turner Syndrome (TS patients and detected high level of mosaicisms ranging from 45,XO:46,XY = 100:0% in 4; 45,XO:46,XY:46XX = 4:94:2 in 8; and 45,XO:46,XY:46XX = 50:30:20 cells in 3 TS patients, unlike previous reports showing 5-8% cells with Y- material. Also, no ring, marker or di-centric Y was observed in any of the cases. Of the two TS patients having intact Y chromosome in >85% cells, one was exceptionally tall. Both the patients were positive for SRY, DAZ, CDY1, DBY, UTY and AZFa, b and c specific STSs. Real Time PCR and FISH demonstrated tandem duplication/multiplication of the SRY and DAZ genes. At sequence level, the SRY was normal in 8 TS patients while the remaining 7 showed either absence of this gene or known and novel mutations within and outside of the HMG box. SNV/SFV analysis showed normal four copies of the DAZ genes in these 8 patients. All the TS patients showed aplastic uterus with no ovaries and no symptom of gonadoblastoma. Present study demonstrates new types of polymorphisms indicating that no two TS patients have identical genotype-phenotype. Thus, a comprehensive analysis of more number of samples is warranted to uncover consensus on the loci affected, to be able to use them as potential diagnostic markers.

Social and medical determinants of quality of life and life satisfaction in women with Turner syndrome.

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Jeż, Wacław; Tobiasz-Adamczyk, Beata; Brzyski, Piotr; Majkowicz, Mikołaj; Pankiewicz, Piotr; Irzyniec, Tomasz J

2018-02-01

Turner syndrome (TS) appears in women as a result of the lack of part or the whole of one of the X chromosomes. It is characterized by the occurrence of low height, hypogonadism, numerous developmental defects, and is often accompanied by psychological disturbances. Although the phenotype characteristics of women with TS are quite well documented, the knowledge of the impact of Turner syndrome on the satisfaction with life is still insufficient. The aim of our study was to assess the impact of TS on selected variables of quality of life, and hence also life satisfaction in women with this syndrome. The research was carried out in a group of 176 women with TS starting March 1995. The patients underwent anthropological and medical examinations, and their medical histories were taken using a questionnaire that included demographic and psychosocial items as well as issues related to selected variables of quality of life. In our research model, general life satisfaction was a dependent variable. The statistical analysis was conducted using the eta and Cramer's V correlation coefficients as well as a multidimensional logistic regression model. The main determinants of dissatisfaction with life in women with TS were short stature and feelings of loneliness and being handicapped. The determinants of life satisfaction in women with Turner syndrome were closely related to the private life of the study participants, in particular self-perception and feelings concerning their health status.

Generation of an induced pluripotent stem cell line from chorionic villi of a Turner syndrome spontaneous abortion.

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Parveen, Shagufta; Panicker, M M; Gupta, Pawan Kumar

2017-03-01

A major cause of spontaneous abortions is chromosomal abnormality of foetal cells. We report the generation of an induced pluripotent stem cell line from the fibroblasts isolated from chorionic villi of an early spontaneously aborted foetus with Turner syndrome. The Turner syndrome villus induced pluripotent stem cell line is transgene free, retains the original XO karyotype, expresses pluripotency markers and undergoes trilineage differentiation. This pluripotent stem cell model of Turner syndrome should serve as a tool to study the developmental abnormalities of foetus and placenta that lead to early embryo lethality and profound symptoms like infertility in 45 XO survivors. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk.

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Baer, Tamar G; Freeman, Christopher E; Cujar, Claudia; Mansukhani, Mahesh; Singh, Bahadur; Chen, Xiaowei; Abellar, Rosanna; Oberfield, Sharon E; Levy, Brynn

2017-01-01

Although monosomy X is the most common karyotype in patients with Turner syndrome, the presence of Y chromosome material has been observed in about 10% of patients. Y chromosome material in patients with Turner syndrome poses an increased risk of gonadoblastoma and malignant transformation. We report a woman with a diagnosis of Turner syndrome at 12 years of age, without signs of virilization, and karyotype reported as 46,X,del(X)(q13). At 26 years, cytogenetic studies indicated the patient to be mosaic for monosomy X and a cell line that contained a du-plicated Yq chromosome. Bilateral gonadectomy was performed and revealed streak gonads, without evidence of gonadoblastoma. Histological analysis showed ovarian stromal cells with few primordial tubal structures. FISH performed on streak gonadal tissue showed a heterogeneous distribution of SRY, with exclusive localization to the primordial tubal structures. DNA extraction from the gonadal tissue showed a 6.5% prevalence of SRY by microarray analysis, contrasting the 86% prevalence in the peripheral blood sample. This indicates that the overall gonadal sex appears to be determined by the majority gonosome complement in gonadal tissue in cases of sex chromosome mosaicism. This case also raises questions regarding malignancy risk associated with Y prevalence and tubal structures in gonadal tissue. © 2017 S. Karger AG, Basel.

Fertility preservation in Turner syndrome.

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Grynberg, Michaël; Bidet, Maud; Benard, Julie; Poulain, Marine; Sonigo, Charlotte; Cédrin-Durnerin, Isabelle; Polak, Michel

2016-01-01

Premature ovarian insufficiency is a relatively rare condition that can appear early in life. In a non-negligible number of cases the ovarian dysfunction results from genetic diseases. Turner syndrome (TS), the most common sex chromosome abnormality in females, is associated with an inevitable premature exhaustion of the follicular stockpile. The possible or probable infertility is a major concern for TS patients and their parents, and physicians are often asked about possible options to preserve fertility. Unfortunately, there are no recommendations on fertility preservation in this group. The severely reduced follicle pool even during prepubertal life represents the major limit for fertility preservation and is the root of numerous questions regarding the competence of gametes or ovarian tissue crybanked. In addition, patients suffering from TS show higher than usual rates of spontaneous abortion, fetal anomaly, and maternal morbidity and mortality, which should be considered at the time of fertility preservation and before reutilization of the cryopreserved gametes. Apart from fulfillment of the desire of becoming genetic parents, TS patients may be potential candidates for egg donation, gestational surrogacy, and adoption. The present review discusses the different options for preserving female fertility in TS and the ethical questions raised by these approaches. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Phrenic Nerve Palsy Secondary to Parsonage-Turner Syndrome: A Diagnosis Commonly Overlooked.

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McEnery, Tom; Walsh, Ronan; Burke, Conor; McGowan, Aisling; Faul, John; Cormican, Liam

2017-04-01

Neuralgic Amyotrophy (NA) or Parsonage-Turner syndrome is an idiopathic neuropathy commonly affecting the brachial plexus. Associated phrenic nerve involvement, though recognised, is thought to be very rare. We present a case series of four patients (all male, mean age 53) presenting with dyspnoea preceded by severe self-limiting upper limb and shoulder pain, with an elevated hemi-diaphragm on clinical examination and chest X-ray. Neurological examination of the upper limb at the time of presentation was normal. Diaphragmatic fluoroscopy confirmed unilateral diaphragmatic paralysis. Pulmonary function testing demonstrated characteristic reduction in forced vital capacity between supine and sitting position (mean 50%, range 42-65% predicted, mean change 23%, range 22-46%), reduced maximal inspiratory pressures (mean 61%, range 43-86% predicted), reduced sniff nasal inspiratory pressure (mean 88.25, range 66-109 cm H 2 O) and preserved maximal expiratory pressure (mean 107%, range 83-130% predicted). Phrenic nerve conduction studies confirmed phrenic nerve palsy. All patients were managed conservatively. Follow-up ranged from 6 months to 3 years. Symptoms and lung function variables normalised in three patients and improved significantly in the fourth. The classic history of severe ipsilateral shoulder and upper limb neuromuscular pain should be elicited and thus NA considered in the differential for a unilateral diaphragmatic paralysis, even in the absence of neurological signs. Parsonage-Turner syndrome is likely to represent a significantly under-diagnosed aetiology of phrenic nerve palsy. Conservative management as opposed to surgical intervention is advocated as most patients demonstrate gradual resolution over time in this case series.

Inhibin A and B in adolescents and young adults with Turner's syndrome and no sign of spontaneous puberty

DEFF Research Database (Denmark)

Gravholt, C.H.; Næraa, R.W.; Andersson, A.M.

2002-01-01

The aim of this study was to assess levels of inhibin A and B, FSH and LH in Turner's syndrome (TS) without signs of spontaneous ovarian activity.......The aim of this study was to assess levels of inhibin A and B, FSH and LH in Turner's syndrome (TS) without signs of spontaneous ovarian activity....

Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality

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Gioconda Manassero-Morales

2016-01-01

Full Text Available Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X,+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.

Fertility and Pregnancy in Turner Syndrome.

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Bouet, Pierre-Emmanuel; Godbout, Ariane; El Hachem, Hady; Lefebvre, Maude; Bérubé, Lyne; Dionne, Marie-Danielle; Kamga-Ngande, Carole; Lapensée, Louise

2016-08-01

Turner syndrome (TS) occurs in one in 2500 live female births and is one of the most common chromosomal abnormalities in women. Pregnancies in women with TS, conceived with either autologous or donated oocytes, are considered high risk because of the associated miscarriages and life-threatening cardiovascular complications (aortic dissection, severe hypertension). Therefore, it is imperative to conduct a full preconception evaluation and counselling that includes cardiac assessment with Holter blood pressure monitoring, echocardiography, and thoracic MRI. Abnormal findings, such an aortic dilatation, mandate close monitoring throughout the pregnancy and the immediate postpartum period and could possibly contraindicate pregnancy. When in vitro fertilization using donated oocytes is performed in these women, only a single embryo should be transferred. Women with a Turner mosaic karyotype appear to have a lower risk of obstetrical and cardiovascular complications but should nevertheless undergo the full preconception evaluation. In this article, we offer guidelines on the management of women with TS in the preconception period, during pregnancy, and postpartum. Copyright © 2016 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada. Published by Elsevier Inc. All rights reserved.

Growth hormone treatment in Turner's syndrome: A real world experience

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Vijay Sheker Reddy Danda

2017-01-01

Full Text Available Objective: Short stature is a universal clinical feature of Turner's syndrome (TS. Growth failure begins in fetal life, and adults with TS are on an average 20 cm shorter than the normal female population. Since there is a paucity of data from India regarding the effect of growth hormone (GH on TS patients, we retrospectively analyzed the data of TS patients who are on GH treatment. Methods: This hospital-based observational retrospective study was conducted in a tertiary care hospital of Hyderabad. The data such as height, weight, and bone age of 16 patients who are diagnosed with TS on GH therapy for at least 6 months were included in the study. All the patients were treated with human recombinant GH at the dose of 0.3 mg/kg/week administered as daily subcutaneous injections. Results: The mean age at diagnosis was 12.7 years. The mean height at the start of GH therapy was 1.26 m, and mean height standard deviation score (HSDS was-0.61 when compared to Turner's specific reference data. With a mean duration of GH therapy of 25 months, the mean height at the end of therapy was 1.37 m and the mean height as per HSDS was + 0.37 resulting in a mean height gain of + 0.99 HSDS. Conclusion: Our observation shows that girls with TS benefit from early diagnosis and initiation of treatment with GH.

[Turner syndrome: Study of 42 cases].

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Bahíllo-Curieses, M Pilar; Prieto-Matos, Pablo; Quiroga González, Rocío; Regueras Santos, Laura; Blanco Barrio, Amaya; Rupérez Peña, Sara

2016-10-21

Turner syndrome (TS) is characterized by short stature, gonadal dysgenesis, and total or partial loss of X chromosome. A historical cohorts study of patients with TS≤18 years old followed up in public hospitals in Castilla y Leon was undertaken. Forty-two female patients were included (prenatal diagnosis 11.9%, neonatal diagnosis 14.3%) with current median age 11.9±4.2 years. Short stature was the reason for consultation in 87.1%. Total monosomy of X chromosome was present in 40.5%. The most frequently associated comorbidity was opthalmological (50%), with heart defects in 23.8%. Ninety-three percent were treated with growth hormone (GH), mean age at the beginning of treatment was 7.43±3.4 years and mean height standard deviation was -2.84±1.08. Final height was reached in 10 patients only (mean final height 151.47±6.09cm). Chronological age of puberty induction was 13.2±0.94 years (bone age 12.47±1.17 years). Short stature was an important clinical sign for the diagnosis of TS, accompanied in some cases by other findings, with good response to GH treatment. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

Uterus and ovaries in girls and young women with Turner syndrome evaluated by ultrasound and magnetic resonance imaging

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Cleemann, Line; Holm, Kirsten; Fallentin, Eva

2011-01-01

Objective To determine uterine and ovarian size in Turner syndrome (TS) and to compare uterine and ovarian size evaluated by transabdominal ultrasound (US) and magnetic resonance imaging (MRI) in girls with TS and two groups of controls. Design A cross-sectional study. Patients Forty-one girls...

Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes

NARCIS (Netherlands)

Roelofs, R.L.; Wingbermühle, P.A.M.; Freriks, K.; Verhaak, C.M.; Kessels, R.P.C.; Egger, J.I.M.

2015-01-01

Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The

Alexithymia, Emotion Perception, and Social Assertiveness in Adult Women with Noonan and Turner Syndromes

NARCIS (Netherlands)

Roelofs, R.L.; Wingbermühle, P.A.M.; Freriks, K.; Verhaak, C.M.; Kessels, R.P.C.; Egger, J.I.M.

2015-01-01

Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The

Turner syndrome: transition from pediatrics to adulthood.

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Rubin, Karen R

2008-09-01

To highlight the importance of an improved, seamless, and effective transition from pediatric to adult care, especially for medically complex conditions such as Turner syndrome (TS). The morbidities in adult patients with TS are reviewed, including features of the metabolic syndrome, congenital and acquired cardiovascular conditions, osteopenia and osteoporosis, autoimmune thyroid disease, and obesity, and psychobehavioral issues are addressed, in terms of promoting the development of independent self-care and autonomy in adolescent patients. An essential component of high-quality health care, transition for adolescents with TS needs to be reengineered as a staged process initiated during early-stage adolescence (about age 12 years), when exogenous estrogen therapy is begun in coordination with the final phase of growth hormone therapy. At this time, the focus of care shifts from the parent to the adolescent and from maximizing final adult height to inducing puberty with gradually increasing doses of estrogen. During this transition, the development of healthful and independent healthcare behaviors should be promoted to prepare patients with TS for the adult responsibility of self-care. During the final phase of transition, an adult care plan should be formulated in collaboration with the adolescent with TS and her providers of adult care to improve the likelihood that she will continue to be carefully monitored in a way that optimizes her adult health and longevity. The transitional period from pediatrics to adulthood is the ideal time for patients with TS to be made aware of their health history and health needs and of the evolving impact of TS into adulthood.

Unusual Turner syndrome mosaic with a triple x cell line (47,X/49,XXX) in a western lowland gorilla (Gorilla gorilla gorilla).

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Bradford, Carol M; Tupa, Lynn; Wiese, Debbie; Hurley, Timothy J; Zimmerman, Ralph

2013-12-01

A 29-yr-old female western lowland gorilla (Gorilla gorilla gorilla) was evaluated for low fertility and a midterm abortion. Laboratory testing included karyotyping, which revealed an unusual mosaicism for Turner syndrome with Triple X (47,X/49,XXX). This appears to be the first report of Turner syndrome in a great ape. In humans, Turner syndrome occurs in approximately 1 in 3,000 females, with half of those monosomic for the X chromosome. A small proportion is mosaic for a triple X cell line (3-4%). In humans, Turner syndrome is associated with characteristic phenotype including short stature, obesity, a broad chest with widely spaced nipples, webbing of the neck, and anteverted ears. This individual gorilla is significantly shorter in stature than conspecifics and is obese despite normal caloric intake. Individuals with Turner syndrome should also be screened for common health issues, including congenital heart defects, obesity, kidney abnormalities, hypertension, hypothyroidism, and diabetes mellitus. Animals with decreased fertility, multiple miscarriages, fetal losses, unusual phenotypes, or a combination of these symptoms should be evaluated for genetic abnormalities.

Acromegaly accompanied by Turner syndrome with 47,XXX/45,X/46,XX mosaicism.

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Yamazaki, Masanori; Sato, Ai; Nishio, Shin-ichi; Takeda, Teiji; Miyamoto, Takahide; Katai, Miyuki; Hashizume, Kiyoshi

2009-01-01

A 33-year-old woman was hospitalized for examination of edematous laryngopharynx. She was acromegalic. A pituitary adenoma with elevated serum levels of growth hormone (GH) and insulin-like growth factor-I (IGF-I) was detected, indicating acromegaly caused by GH-secreting pituitary adenoma. Multiple pigmented nevi were also noted without overt short stature and cubitus valgus. Chromosome analysis revealed that she had contracted Turner syndrome with 47,XXX/45,X/46,XX mosaicism. Transsphenoidal resection of the tumor decreased serum GH and IGF-I levels, but the edema was not improved. Both premature ovarian failure and hypertension appeared after surgery. This case may indicate the important relationships between GH/IGF-I and Turner syndrome.

Cognitive Ability and Everyday Functioning in Women with Turner Syndrome.

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Downey, Jennifer; And Others

1991-01-01

Comparison of 23 Turner syndrome (TUS) women with 23 women with constitutional short stature (CSS) found significant group differences for Performance and Full Scale IQ, largely due to TUS women's deficits in spatial and mathematical ability. TUS individuals had significantly lower educational and occupational attainment than CSS controls but did…

Atypical Functional Brain Activation during a Multiple Object Tracking Task in Girls with Turner Syndrome: Neurocorrelates of Reduced Spatiotemporal Resolution

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Beaton, Elliott A.; Stoddard, Joel; Lai, Song; Lackey, John; Shi, Jianrong; Ross, Judith L.; Simon, Tony J.

2010-01-01

Turner syndrome is associated with spatial and numerical cognitive impairments. We hypothesized that these nonverbal cognitive impairments result from limits in spatial and temporal processing, particularly as it affects attention. To examine spatiotemporal attention in girls with Turner syndrome versus typically developing controls, we used a…

CHARACTERIZATION OF SPONTANEOUS AND INDUCED PUBERTY IN GIRLS WITH TURNER SYNDROME.

Science.gov (United States)

Folsom, Lisal J; Slaven, James E; Nabhan, Zeina M; Eugster, Erica A

2017-07-01

To characterize puberty in girls with Turner syndrome (TS) and determine whether specific patient characteristics are associated with the timing of menarche. We also sought to compare spontaneous versus induced puberty in these patients. Medical records of girls followed in our Pediatric Endocrine clinic for TS from 2007 to 2015 were reviewed. Fifty-three girls were included, of whom 10 (19%) achieved menarche spontaneously and 43 (81%) received hormone replacement therapy (HRT). Of girls receiving HRT, a younger age at estrogen initiation correlated with a longer time to menarche (P = .02), and a mosaic karyotype was associated with a shorter time to menarche (P = .02), whereas no relationship was seen for body mass index, estrogen regimen, or maternal age at menarche. Nineteen girls (44%) receiving HRT had bleeding on estrogen alone at a wide dose range and were more likely to be on transdermal than oral preparations (P = .01). Girls with spontaneous puberty achieved menarche at a younger age (PTurner syndrome.

Turner syndrome: neuroimaging findings: structural and functional.

LENUS (Irish Health Repository)

Mullaney, Ronan

2009-01-01

Neuroimaging studies of Turner syndrome can advance our understanding of the X chromosome in brain development, and the modulatory influence of endocrine factors. There is increasing evidence from neuroimaging studies that TX individuals have significant differences in the anatomy, function, and metabolism of a number of brain regions; including the parietal lobe; cerebellum, amygdala, hippocampus; and basal ganglia; and perhaps differences in "connectivity" between frontal and parieto-occipital regions. Finally, there is preliminary evidence that genomic imprinting, sex hormones and growth hormone have significant modulatory effects on brain maturation in TS.

A Case of Turner Syndrome with Multiple Embolic Infarcts

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Cindy W. Yoon

2016-09-01

Full Text Available Only a few cases of Turner syndrome (TS with ischemic stroke have been reported. Various arteriopathies of the cerebral arteries, including fibromuscular dysplasia, congenital hypoplasia, moyamoya syndrome, and premature atherosclerosis have been assumed to be the cause of ischemic stroke in TS. There has been no case report of a TS patient presenting with an embolic stroke pattern without any cerebral arteriopathy. A 28-year-old woman with TS was referred to our hospital because of abnormal brain magnetic resonance imaging (MRI findings. She underwent brain MRI at the referring hospital because she experienced sudden-onset diffuse headache. Diffusion-weighted imaging revealed multiple acute embolic infarcts in different vascular territories. Intracranial and extracranial arterial disease was not detected on cerebral magnetic resonance angiography and carotid sonography. Embolic source workups, including transthoracic and transesophageal echocardiography, Holter monitoring, and transcranial Doppler shunt study, were all negative. Hypercoagulability and vasculitis panels were also negative. Our patient was diagnosed with cryptogenic embolic stroke. This is the first report of a TS patient with an embolic stroke pattern. Our case shows that ischemic stroke in TS could be due to embolism as well as the various cerebral arteriopathies documented in previous reports.

Case of Combination of Hyperprolactinemic Hypogonadism and Mosaic Turner Syndrome

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V.S. Vernyhorodskyi

2016-04-01

Full Text Available After detail examination of 24-year-old female patient (cariotype — 46XX/45XO, sex chromatin — 11 %, serum prolactin level — more than 200 mIU/ml (normal level — less than 26,72, ovarian ultrasound, geneticist consultation, magnetic resonance imaging of the hypophysis, the сlinical diagnosis was established: pituitary microadenoma. Hyperprolactinemic hypogonadism. Mosaic Turner syndrome. Genital infantilism. Infertility of endocrine origin. First menstruation occurred in 3 months, and pregnancy — in 4 month after initiation of the treatment with alactin 0.5 mg twice a week, after that bromocriptine 2.5 mg once a day was administered. On the 39–40th week of pregnancy, the patient gave birth to a girl (via cesarean section, whose weight was 3.4 kg and height — 48 cm.

Congenital absence of the portal vein in a child with Turner syndrome

International Nuclear Information System (INIS)

Noe, Jacob A.; Burton, Edward M.; Pittman, Heather C.

2006-01-01

Congenital absence of the portal vein (CAPV) is a rare malformation associated with hepatic encephalopathy and liver function abnormalities. We report a case of a 2-year-old with Turner syndrome, CAPV, and congenital heart malformations. (orig.)

Congenital absence of the portal vein in a child with Turner syndrome

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Noe, Jacob A.; Burton, Edward M. [Department of Radiology, University of Tennessee College of Medicine-Chattanooga Branch, Chattanooga, TN (United States); Pittman, Heather C. [Department of Pediatrics, University of Tennessee College of Medicine-Chattanooga Branch, Chattanooga, TN (United States)

2006-06-15

Congenital absence of the portal vein (CAPV) is a rare malformation associated with hepatic encephalopathy and liver function abnormalities. We report a case of a 2-year-old with Turner syndrome, CAPV, and congenital heart malformations. (orig.)

Effect of estrogen replacement therapy on bone and cardiovascular outcomes in women with turner syndrome: a systematic review and meta-analysis.

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Cintron, Dahima; Rodriguez-Gutierrez, Rene; Serrano, Valentina; Latortue-Albino, Paula; Erwin, Patricia J; Murad, Mohammad Hassan

2017-02-01

Patients with Turner syndrome have adverse bone and cardiovascular outcomes from chronic estrogen deficiency. Hence, long-term estrogen replacement therapy is the cornerstone treatment. The estimates of its effect and optimal use, however, remain uncertain. We aimed to summarize the benefits and harms of estrogen replacement therapy on bone, cardiovascular, vasomotor and quality of life outcomes in patients with Turner syndrome. A comprehensive search of four databases was performed from inception through January 2016. Randomized clinical trials and observational cohort studies studying the effect of estrogen replacement therapy in patients with Turner syndrome under the age of 40 were included. Independently and in duplicate reviewers selected studies, extracted data and assessed risk of bias. Subgroup analyses were based on route of administration and type of estrogen formulation. Twenty-five studies at moderate to high risk of bias (12 randomized trials, 13 cohort studies) with 771 patients were included. Using random-effects models, estrogen replacement therapy showed an increase in bone mineral density [weighted mean change from baseline 0.09 g/cm2 (0.04-0.14)] that differed by type of estrogen but not route of administration. Oral estrogen replacement therapy showed a higher increase in high density lipoprotein cholesterol levels when compared to transdermal [weighted mean difference 9.33 mg/dl (4.82-13.85)] with no significant effect on other lipid fractions. The current evidence suggests possible benefit of estrogen replacement therapy on bone mineral density and high density lipoprotein cholesterol. Whether this improvement translates into changes in patient important outcomes (cardiovascular events or fractures) remains uncertain. Larger randomized clinical trials with direct comparisons on patient important outcomes are necessary.

Mondini deformity in a case of Turner syndrome. A radiological finding.

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Bodet Agustí, Eduard; Galido Ortego, Xavier; Ghani Martínez, Fares; García González, Begoña; Borràs Perera, Montserrat; Seara Gil, Angel

2012-01-01

Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity. Copyright © 2010 Elsevier España, S.L. All rights reserved.

Síndrome de Parsonage-Turner: relato de caso em paciente HIV soropositivo Parsonage-Turner Syndrome: case report of a HIV seropositive patient

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Saulo Gomes de Oliveira

2010-01-01

Full Text Available A síndrome de Parsonage-Turner é uma doença rara que acomete a musculatura da cintura escapular levando à hipotrofia muscular e grande déficit motor. A etiologia é indeterminada; acredita-se que existam fatores infecciosos e autoimunes envolvidos. O diagnóstico é de exceção, e os principais diagnósticos diferenciais são hérnias discais cervicais, lesões do manguito rotador e doenças reumáticas. Na investigação diagnóstica realizamos exames laboratoriais, radiografias e ressonância magnética dos ombros e da coluna cervical com destaque para a eletroneuromiografia auxiliando no diagnóstico definitivo. Por se tratar de uma doença raramente associada à soropositividade do vírus HIV e pela importância do diagnóstico precoce para o melhor tratamento destes pacientes é que relatamos este caso.The Parsonage-Turner Syndrome is a rare disease that affects the muscles of the scapular girdle, leading to muscular atrophy and a large motor deficit. The etiology is unknown, but it is believed that infectious and autoimmune factors are involved. The diagnosis is made by exclusion, and the main differential diagnoses are cervical disc hernias, rotator cuff injuries and rheumatic diseases. During diagnostic research, we conducted laboratory tests, radiographs and MRI of the shoulder and cervical spine, with particular reference to electroneuromyography to help generate a definitive diagnosis. This case report is presented because it shows a disease that is rarely associated with HIV seropositivity and the importance of early diagnosis for better treatment of these patients.

Behavioral Assessment of Social Anxiety in Females with Turner or Fragile X Syndrome.

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Lesniak-Karpiak, Katarzyna; Mazzocco, Michele M. M.; Ross, Judith L.

2003-01-01

This study compared 29 females with Turner syndrome and 21 females with fragile X syndrome (ages 6-22) on a videotaped role-play interaction with 34 females in a comparison group. Three of eight behavioral measures of social skills differentiated the participant groups. Fragile-X subjects required more time to initiate interactions and Turner…

Long-term hormone replacement therapy preserves bone mineral density in Turner syndrome

DEFF Research Database (Denmark)

Cleemann, Line; Hjerrild, Britta E; Lauridsen, Anna L

2009-01-01

CONTEXT: Reduced bone mineral density (BMD) and increased risk of fractures are present in many women with Turner syndrome (TS). OBJECTIVE: Examine longitudinal changes in BMD in TS and relate changes to biochemical parameters. DESIGN: Prospective, pragmatic, and observational study. Examinations...

Lichen sclerosus en het syndroom van Turner

NARCIS (Netherlands)

van Ijsselmuiden, Mèlanie N; Bos, Annelies M E; Hoek, Annemieke; van Beek, André P; Kerstens, Michiel N

2010-01-01

Lichen sclerosus was diagnosed at a young age (19, 22 and 37 years) in three women with Turner syndrome. The oldest of these patients had probably suffered from this disorder for over 20 years. The relatively young age of these three patients is remarkable. This observation also suggests an

Manifestações clínicas e fonoaudiológicas na Síndrome de Turner: estudo bibliográfico Clinical and speech, hearing and language pathology manifestations on Turner Syndrome: bibliographical study

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Suhamy Aline Mandelli

2012-02-01

Full Text Available TEMA: síndrome genética e achados fonoaudiológicos. OBJETIVO: descrever as manifestações clínicas e fonoaudiológicas em indivíduos com a Síndrome de Turner CONCLUSÃO: foram levantados 23 artigos sobre a Síndrome de Turner dos quais 7 discorriam sobre a audição e suas alterações nesses indivíduos, 6 sobre linguagem receptiva e/ou expressiva e praxia, 5 sobre aspectos psicológicos e cognitivos além de 28 artigos referentes às manifestações clínicas em geral. Por meio do levantamento bibliográfico pode-se observar que as manifestações fonoaudiológicas na Síndrome de Turner são pouco estudadas e, dentro da fonoaudiologia as manifestações audiológicas como perda de audição e otites são as mais estudadas, ao contrário dos aspectos práxicos e de recepção/ expressão da linguagem.BACKGROUND: genetic syndrome and Speech, Hearing and Language Pathology findings. PURPOSE: to describe the clinical and speech, hearing and language manifestations in subjects with Turner syndrome. CONCLUSION: twenty-three articles on Turner' syndrome were collected, of which 7 described hearing and its alterations in these subjects, 6 described the receptive and/or expressive language and praxis, 5 described the psychological and cognitive aspects, besides those, 28 articles referred to the clinical manifestations. Through the literature research it was observed that speech, hearing and language manifestations of Turner syndrome are little studied and, within Speech, Hearing and Language Pathology, hearing manifestations such as hearing loss and ear infections are the most studied, unlike the issues of praxis and language reception/expression.

Mathematics Learning Disabilities in Girls with Fragile X or Turner Syndrome during Late Elementary School

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Murphy, Melissa M.; Mazzocco, Michele M. M.

2008-01-01

The present study focuses on math and related skills among 32 girls with fragile X (n = 14) or Turner (n = 18) syndrome during late elementary school. Performance in each syndrome group was assessed relative to Full Scale IQ-matched comparison groups of girls from the general population (n = 32 and n = 89 for fragile X syndrome and Turner…

Facial markers in second- and third-trimester fetuses with trisomy 18 or 13, triploidy or Turner syndrome.

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Kagan, K O; Sonek, J; Berg, X; Berg, C; Mallmann, M; Abele, H; Hoopmann, M; Geipel, A

2015-07-01

To examine the effectiveness of nasal bone (NB) evaluation (including NB length (NBL)), prenasal thickness (PT) measurement, the PT:NBL ratio and the prefrontal space ratio (PFSR) in the identification of fetuses with trisomy 18 or 13, triploidy or Turner syndrome. This was a retrospective study using stored midsagittal two-dimensional images of the facial profile of fetuses with trisomy 18 or 13, triploidy or Turner syndrome in the second and third trimesters. For images of acceptable quality, measurements were obtained of NBL (where NB was present), PT, the PT:NBL ratio and PFSR, and these measurements were compared with previously published normal ranges. The search of databases identified 189 fetuses that met the study criteria: 132 (69.8%) with trisomy 18, 40 (21.2%) with trisomy 13, 10 (5.3%) with triploidy and seven (3.7%) with Turner syndrome. The NB was either absent or its measurement was below the 5(th) centile in 67 (50.8%), 20 (50.0%), five (50.0%) and two (28.6%) of the fetuses with trisomy 18, trisomy 13, triploidy and Turner syndrome, respectively. The PT measurement was above the 95(th) centile in 24 (18.2%), six (15.0%), one (10.0%) and one (14.3%) of the affected fetuses, respectively. The PFSR was abnormal in 72 (54.5%), 29 (72.5%), seven (70%) and four (57.1%) of the cases and the PT:NBL ratio was above the 95(th) centile or the nasal bone was absent in 72 (54.5%), 20 (50.0%), six (60.0%) and four (57.1%) cases, respectively. Although each of the facial markers considered provides some useful information in screening for trisomy 18, trisomy 13, triploidy and Turner syndrome, the performance of none of the markers appears to be as good as that in screening for trisomy 21. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

Benign Phyllodes Tumor Mimicking a Malignancy in a Turner Syndrome Woman with Hormone Replacement Therapy: A Case Report

International Nuclear Information System (INIS)

Lee, Woong Jae; Chong, Se Min; Pang, Jae Choon; Seo, Jae Seung; Byun, Jun Soo; Seok, Ju Won; Shin, Hee Jung; Gong, Gyung Yub

2010-01-01

Phyllodes tumor of the breast is a relatively rare fibroepithelial tumor. Turner syndrome is a condition that affects approximately 50 per 100,000 females and includes total or partial absence of one X chromosome in all or part of the cells, reduced final height, absence of female sex hormone, and infertility. In this case report, we describe the first case of a benign phyllodes tumor mimicking a malignancy at breast US in a 26-year-old woman with Turner syndrome who had been undergoing hormone replacement therapy

Benign Phyllodes Tumor Mimicking a Malignancy in a Turner Syndrome Woman with Hormone Replacement Therapy: A Case Report

Energy Technology Data Exchange (ETDEWEB)

Lee, Woong Jae; Chong, Se Min; Pang, Jae Choon; Seo, Jae Seung; Byun, Jun Soo; Seok, Ju Won [Chung-Ang University Medical Center, Chung-Ang University College of Medicine, Seoul (Korea, Republic of); Shin, Hee Jung; Gong, Gyung Yub [Asan Medical Center, University of Ulsan College of Mdeicine, Seoul (Korea, Republic of)

2010-12-15

Phyllodes tumor of the breast is a relatively rare fibroepithelial tumor. Turner syndrome is a condition that affects approximately 50 per 100,000 females and includes total or partial absence of one X chromosome in all or part of the cells, reduced final height, absence of female sex hormone, and infertility. In this case report, we describe the first case of a benign phyllodes tumor mimicking a malignancy at breast US in a 26-year-old woman with Turner syndrome who had been undergoing hormone replacement therapy

Ocular Motor Indicators of Executive Dysfunction in Fragile X and Turner Syndromes

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Lasker, Adrian G.; Mazzocco, Michele M. M.; Zee, David S.

2007-01-01

Fragile X and Turner syndromes are two X-chromosome-related disorders associated with executive function and visual spatial deficits. In the present study, we used ocular motor paradigms to examine evidence that disruption to different neurological pathways underlies these deficits. We tested 17 females with fragile X, 19 females with Turner…

Growth hormone treatment in Turner syndrome accelerates growth and skeletal maturation

NARCIS (Netherlands)

C. Rongen-Westerlaken (Ciska); J.M. Wit (Jan); S.M.P.F. de Muinck Keizer-Schrama (Sabine); B.J. Otten (Barto); W. Oostdijk (Wilma); H.A. Delemarre-van der Waal (H.); M.H. Gons (M.); A.G. Bot (Alice); J.L. van den Brande (J.)

1992-01-01

textabstractSixteen girls with Turner syndrome (TS) were treated for 4 years with biosynthetic growth hormone (GH). The dosage was 4IU/m2 body surface s.c. per day over the first 3 years. In the 4th year the dosage was increased to 61 U/m2 per day in the 6 girls with a poor height increment and in 1

Estrogen and hearing from a clinical point of view; characteristics of auditory function in women with Turner syndrome.

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Hederstierna, Christina; Hultcrantz, Malou; Rosenhall, Ulf

2009-06-01

Turner syndrome is a chromosomal aberration affecting 1:2000 newborn girls, in which all or part of one X chromosome is absent. This leads to ovarial dysgenesis and little or no endogenous estrogen production. These women have, among many other syndromal features, a high occurrence of ear and hearing problems, and neurocognitive dysfunctions, including reduced visual-spatial abilities; it is assumed that estrogen deficiency is at least partially responsible for these problems. In this, study 30 Turner women aged 40-67, with mild to moderate hearing loss, performed a battery of hearing tests aimed at localizing the lesion causing the sensorineural hearing impairment and assessing central auditory function, primarily sound localization. The results of TEOAE, ABR and speech recognition scores in noise were all indicative of cochlear dysfunction as the cause of the sensorineural impairment. Phase audiometry, a test for sound localization, showed mild disturbances in the Turner women compared to the reference group, suggesting that auditory-spatial dysfunction is another facet of the recognized neurocognitive phenotype in Turner women.

Efficacy and safety of oxandrolone in growth hormone-treated girls with turner syndrome

NARCIS (Netherlands)

L.A. Menke (Leonie); T.C.J. Sas (Theo); S.M.P.F. de Muinck Keizer-Schrama (Sabine); G.R.J. Zandwijken (Gladys); M.A.J. de Ridder (Maria); R.J.H. Odink (Roelof); M. Jansen (Maarten); H.A. de Delemarre-van Waal (Henriëtte); W.H. Stokvis-Brantsma; J.J.J. Waelkens (Johan); C. Westerlaken (Ciska); H.M. Reeser (Maarten); A.S.P. van Trotsenburg (Paul); E.F. Gevers (Evelien); S. van Buuren (Stef); P.H. Dejonckere (Philippe); A.C.S. Hokken-Koelega (Anita); B.J. Otten (Barto); J.M. Wit (Jan)

2010-01-01

textabstractContext and Objective: GH therapy increases growth and adult height in Turner syndrome (TS). The benefit to risk ratio of adding the weak androgen oxandrolone (Ox) to GH is unclear. Design and Participants: A randomized, placebo-controlled, double-blind, dose-response study was performed

A case report of severe panhypopituitarism in a newborn delivered by a women with Turner syndrome.

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Olszewska, Marta; Kiełbasa, Grzegorz; Wójcik, Małgorzata; Zygmunt-Górska, Agata; Starzyk, Jerzy B

2015-01-01

Turner syndrome (TS) is a congenital disease caused by absence or structural abnormalities of sex chromosomes resulting in gonadal dysgenesis. Spontaneous pregnancies occur in 2-8% of patients, especially with mosaic kariotypes, however they are associated with increased risk of poor outcome both for mother and fetus. We report a 4-day-old male infant delivered by women with mosaic TS who was admitted to the pediatric intensive care unit and presented with severe panhypopituitarism as the early manifestation of pituitary stalk interruption syndrome (PSIS). To the best of our knowledge this is the first report of severe panhypopituitarism in a newborn borne by women with TS.

Association between the degree of mosaicism and the severity of syndrome in Turner mosaics and Klinefelter mosaics.

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Sarkar, R; Marimuthu, K M

1983-12-01

This study, based on the investigations carried on 82 cases of Turners of which 50 of them were mosaics and 85 cases of Klinefelters of which 70 of them were mosaics, is an attempt to explain the vast range of clinical variations observed in cytogenetically established Turner mosaics (45,X/46,XX) and Klinefelter mosaics (47,XXY/46,XY) in the light of the degree of mosaicism present in them. It was observed that the severity of the syndrome in Turner mosaics and Klinefelter mosaics increased with the relative increase in the abnormal cell line population.

A synopsis on current practice in the diagnosis and management of patients with Turner syndrome in Turkey: A survey of 18 pediatric endocrinology centers*

Science.gov (United States)

Uçar, Ahmet; Abacı, Ayhan; Pirgon, Özgür; Dündar, Bumin; Tütüncüler, Filiz; Çatlı, Gönül; Anık, Ahmet; Kılınç Uğurlu, Aylin; Büyükgebiz, Atilla

2018-04-27

A comprehensive survey was conducted courtesy of the Turkish Turner study group to evaluate the shortcomings of clinical care in patients with Turner syndrome (TS) in Turkey. A structured questionnaire prepared by the Turner study group in Turkey, which covers relevant aspects of the care of patients with TS, was sent to all pediatric endocrinology centers. Eighteen centers (41%) returned the questionnaire. In the majority of the centers, diagnostic genetic testing, screening for Y chromosomal material, protocols regarding the timing and posology of growth hormone (GH) and estrogen, thrombophilia screening, fertility information, and screening for glucose intolerance, thyroid, and coeliac diseases in patients with TS were in line with the current consensus. Thirteen centers (72.2%) performed GH stimulation tests. Only four centers (22.2%) used oxandrolone in patients with TS with very short stature. The majority of the centers relied on bone age and breast development to assess estrogen adequacy, though together with variable combinations of oestrogen surrogates. Two centers (11.1%) reported performing serum estradiol measurements. Eight centers (44.4% ) routinely conducted cardiac/thoracic aorta magnetic resonance imaging. Screening for hearing, dental, and ophthalmologic problems were performed by thirteen (72.2%), six (33.3%), and ten (55.6 %) centers, respectively. Psychiatric assessments were made by four centers (22.2%) at diagnosis, with only one center (5.6% ) requiring annual reassessments. Although we found some conformity between the current consensus and practice of the participating centers in Turkey regarding TS, further improvements are mandatory in the multi-disciplinary approach to address co-morbidities, which if unrecognized, may be associated with reduced quality of life, and even mortality.

Efficacy and Safety of Oxandrolone in Growth Hormone-Treated Girls with Turner Syndrome

NARCIS (Netherlands)

Menke, Leonie A.; Sas, Theo C. J.; de Muinck Keizer-Schrama, Sabine M. P. F.; Zandwijken, Gladys R. J.; de Ridder, Maria A. J.; Odink, Roelof J.; Jansen, Maarten; Delemarre-van de Waal, Henriëtte A.; Stokvis-Brantsma, Wilhelmina H.; Waelkens, Johan J.; Westerlaken, Ciska; Reeser, H. Maarten; Paul van Trotsenburg, A. S.; Gevers, Evelien F.; van Buuren, Stef; Dejonckere, Philippe H.; Hokken-Koelega, Anita C. S.; Otten, Barto J.; Wit, Jan M.

2010-01-01

Context and Objective: GH therapy increases growth and adult height in Turner syndrome (TS). The benefit to risk ratio of adding the weak androgen oxandrolone (Ox) to GH is unclear. Design and Participants: A randomized, placebo-controlled, double-blind, dose-response study was performed in 10

Efficacy and safety of oxandrolone in growth hormone-treated girls with turner syndrome

NARCIS (Netherlands)

Menke, L.A.; Sas, T.C.J.; Muinck Keizer de - Schrama, S.M.P.F.; Zandwijken, G.R.J.; Ridder, M.A.J. de; Odink, R.J.; Jansen, M.; Delemarre de - Waal, H.A. van; Stokvis-Brantsma, W.H.; Waelkens, J.J.; Westerlaken, C.; Reeser, H.M.; Trotsenburg, A.S.P. van; Gevers, E.F.; Buuren, S. van; Dejonckere, P.H.; Hokken-Koelega, A.C.S.; Otten, B.J.; Wit, J.M.

2010-01-01

Context and Objective: GH therapy increases growth and adult height in Turner syndrome (TS). The benefit to risk ratio of adding the weak androgen oxandrolone (Ox) to GH is unclear. Design and Participants: A randomized, placebo-controlled, double-blind, dose-response study was performed in 10

Efficacy and Safety of Oxandrolone in Growth Hormone-Treated Girls with Turner Syndrome

NARCIS (Netherlands)

Menke, Leonie A.; Sas, Theo C. J.; Keizer-Schrama, Sabine M. P. F. de Muinck; Zandwijken, Gladys R. J.; de Ridder, Maria A. J.; Odink, Roelof J.; Jansen, Maarten; Delemarre-van de Waal, Henriette A.; Stokvis-Brantsma, Wilhelmina H.; Waelkens, Johan J.; Westerlaken, Ciska; Reeser, H. Maarten; van Trotsenburg, A. S. Paul; Gevers, Evelien F.; van Buuren, Stef; DeJonckere, Philippe H.; Hokken-Koelega, Anita C. S.; Otten, Barto J.; Wit, Jan M.

Context and Objective: GH therapy increases growth and adult height in Turner syndrome (TS). The benefit to risk ratio of adding the weak androgen oxandrolone (Ox) to GH is unclear. Design and Participants: A randomized, placebo-controlled, double-blind, dose-response study was performed in 10

Efficacy and safety of oxandrolone in growth hormone-treated girls with turner syndrome.

NARCIS (Netherlands)

Menke, L.A.; Sas, T.C.J.; Muinck Keizer-Schrama, S.M.P.F. de; Zandwijken, G.R.; Ridder, M.A. de; Odink, R.J.; Jansen, M.; Delemarre-van de Waal, H.A.; Stokvis-Brantsma, W.H.; Waelkens, J.J.; Westerlaken, C.; Reeser, H.M.; Trotsenburg, A.S. van; Gevers, E.F.; Buuren, S. van; Dejonckere, P.H.; Hokken-Koelega, A.C.S.; Otten, B.J.; Wit, J.M.

2010-01-01

Context and Objective: GH therapy increases growth and adult height in Turner syndrome (TS). The benefit to risk ratio of adding the weak androgen oxandrolone (Ox) to GH is unclear. Design and Participants: A randomized, placebo-controlled, double-blind, dose-response study was performed in 10

Unique unbalanced X;X translocation (Xq22;p11.2) in a woman with primary amenorrhea but without Ullrich-Turner syndrome

Energy Technology Data Exchange (ETDEWEB)

Letterie, G.S. [Virginia Mason Medical Center, Seattle, WA (United States)

1995-12-04

This is a report of a patient with delayed puberty and a previously unreported translocation 46,X,-X,+der(X),t(X;X) (q22;p11.2) without any manifestations of Ullrich-Turner syndrome. The relationship of this unbalanced translocation to the critical region hypothesis is discussed. 6 refs., 3 figs.

Clinical features of women with Turner syndrome experiencing transition period in Japan.

Science.gov (United States)

Nishigaki, Satsuki; Hamazaki, Takashi; Tsuruhara, Akitoshi; Yoshida, Toshiko; Imamura, Takuji; Inada, Hiroshi; Fujita, Keinosuke; Shintaku, Haruo

2017-05-30

Turner syndrome results from the entire or partial loss of the second X chromosome, and is associated with a number of medical problems. Affected women require long-term medical follow-up. This study investigated the status of medical follow-up focusing on the transition for young adult women with Turner syndrome (TS). The clinical profiles of 63 women with TS over the age of 16 were retrospectively examined. Thirty-three women are continuously followed by pediatric endocrinologists at our pediatric division. Twenty women were transferred to gynecologists as primary care physicians. Eight young adult women dropped out of the regular health check-up from our pediatric division even though 7 women were undergoing estrogen replacement therapy. We further reviewed the complications and management of the 33 women who were continuously followed at our pediatric division. A high incidence of obesity and liver dysfunction were observed in this age group (23.5±8.7). Nineteen out of 33 women consulted a cardiologist in the adult care division for cardiovascular complications. In the analysis of 20 women who were transferred to gynecologists, mainly two gynecologists accepted the transfer and have become accustomed to clinical care for TS. Seven women who were followed by the gynecologist in our facility were adequately managed for lifelong complications. Since there is no clear framework for transition in Japan, coordination with other specialists, especially gynecologists, is essential for the successful management of adult women with TS. Patient education and provision of information are required for establishing self-advocacy, which will prevent drop-out.

Overlapping Numerical Cognition Impairments in Children with Chromosome 22q11.2 Deletion or Turner Syndromes

Science.gov (United States)

Simon, T. J.; Takarae, Y.; DeBoer, T.; McDonald-McGinn, D. M.; Zackai, E. H.; Ross, J. L.

2008-01-01

Children with one of two genetic disorders (chromosome 22q11.2 deletion syndrome and Turner syndrome) as well typically developing controls, participated in three cognitive processing experiments. Two experiments were designed to test cognitive processes involved in basic aspects numerical cognition. The third was a test of simple manual motor…

47,XXX/45,X/46,XX mosaicism in a patient with Turner phenotype and spontaneous puberal development.

Science.gov (United States)

Brambila-Tapia, Aniel Jessica Leticia; Rivera, Horacio; García-Castillo, Herbert; Domínguez-Quezada, Maria Guadalupe; Dávalos-Rodríguez, Ingrid Patricia

2009-11-01

To describe a patient with infertility and phenotypic combination of Turner and triple-X syndrome related to mos 47,XXX/45X/46,XX karyotype. Case report. División de Genética, Centro de Investigación Biomédica de Occidente and Hospital de Ginecología y Obstetricia, CMNO, Instituto Mexicano del Seguro Social. The 24-year-old patient presented a phenotypic combination of Turner syndrome and X polysomy. She showed wide and short neck, low posterior hairline, cubitus valgus, bilateral shortening of the fourth and fifth metacarpals, multiple nevi, and müllerian anomalies but had spontaneous pubarche, thelarche, and menarche. Laboratory evaluations, imaging studies, ovarian biopsy, G-banding karyotype, and in situ fluorescence hybridization. Clinical and laboratory findings. A karyotype: mos 47,XXX/45X/46,XX was found in the cytogenetic studies, a bicornuate uterus in the ultrasonographic scan, and a normal ovarian profile in the laboratory tests. The infertility in the present case can be related to either bicornuate uterus or subclinical abortions due to aneuploid ova. Cytogenetic assessment provides important information regarding infertile patients with uterine factors and short stature.

Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome

NARCIS (Netherlands)

Freriks, K.; Timmermans, J.; Beerendonk, C.C.M.; Verhaak, C.M.; Netea-Maier, R.T.; Otten, B.J.; Braat, D.D.M.; Smeets, D.F.C.M.; Kunst, D.; Hermus, A.R.M.M.; Timmers, H.J.L.M.

2011-01-01

CONTEXT: Besides short stature and gonadal dysgenesis, Turner syndrome (TS) is associated with various abnormalities. Adults with TS have a reduced life expectancy, mainly related to structural abnormalities of the heart and aorta, and an increased risk of atherosclerosis. OBJECTIVE: Our objective

Turner Syndrome: Genetic and Hormonal Factors Contributing to a Specific Learning Disability Profile

Science.gov (United States)

Rovet, Joanne

2004-01-01

Turner Syndrome (TS) is a genetic disorder affecting primarily females. It arises from a loss of X-chromosome material, most usually one of the two X chromosomes. Affected individuals have a number of distinguishing somatic features, including short stature and ovarian dysgenesis. Individuals with TS show a distinct neurocognitive profile…

Social Functioning among Girls with Fragile X or Turner Syndrome and Their Sisters.

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Mazzocco, Michele M. M.; Baumgardner, Thomas; Freund, Lisa S.; Reiss, Allan L.

1998-01-01

Social behaviors among girls (ages 6-16) with fragile X (n=8) or Turner syndrome (n=9) were examined to address the role of family environment versus biological determinants of social dysfunction. Compared to their sisters, subjects had lower IQS and higher rating of social and attention problems. (Author/CR)

Elevated second-trimester maternal serum β-human chorionic gonadotropin and amniotic fluid alpha-fetoprotein as indicators of adverse obstetric outcomes in fetal Turner syndrome.

Science.gov (United States)

Alvarez-Nava, Francisco; Soto, Marisol; Lanes, Roberto; Pons, Hector; Morales-Machin, Alisandra; Bracho, Ana

2015-12-01

The objective of this study was to determine the ability of biochemical analytes to identify adverse outcomes in pregnancies with Turner syndrome. Maternal serum and amniotic fluid (AF) marker concentrations were measured in 73 singleton pregnancies with Turner syndrome (10-22 weeks of gestation). Fetal Turner syndrome was definitively established by cytogenetic analysis. Two subgroups, fetuses with hydrops fetalis versus fetuses with cystic hygroma, were compared. Receiver operating characteristic curves and relative risk were established for a cut-off multiples of the median ≥3.5 for β-subunit of human chorionic gonadotropin (hCG) or AF alpha-fetoprotein (AFP). Forty-nine (67%) of 73 pregnant women had an abnormal maternal serum. While levels of pregnancy-associated plasma protein-A and free β-subunit (fβ)-hCG were not different to those of the control group, AFP, unconjugated estriol and β-hCG concentrations were significantly different in the study group (P Turner syndrome pregnancies with the highest risk of fetal death. © 2015 Japan Society of Obstetrics and Gynecology.

Molecular genetics of Turner syndrome: correlation with clinical phenotype and response to growth hormone therapy.

Science.gov (United States)

Tsezou, A; Hadjiathanasiou, C; Gourgiotis, D; Galla, A; Kavazarakis, E; Pasparaki, A; Kapsetaki, M; Sismani, C; Theodoridis, C; Patsalis, P C; Moschonas, N; Kitsiou, S

1999-12-01

To correlate the origin of the retained X in Turner syndrome with phenotype, pre-treatment height and response to recombinant human growth hormone (rhGH) therapy, systematic clinical assessment and molecular studies were carried out in 33 Greek children with Turner syndrome and their parents including 18 children with 45,X and 15 with X-mosaicism. Microsatellite markers on X chromosomes (DXS101 and DXS337) revealed that the intact X was paternal (Xp) in 15/30 and maternal (Xm) in 15/30 children, while 3/33 families were non-informative. No significant relationship was found between parental origin of the retained X and birth weight/length/gestational age, blepharoptosis, pterygium colli, webbed neck, low hairline, abnormal ears, lymphoedema, short 4th metacarpal, shield chest, widely spaced nipples, cubitus valgus, pigmented naevi, streak gonads, and cardiovascular/renal anomalies. With regard to the children's pre-treatment height, there was a significant correlation with maternal height and target height in both Xm and Xp groups. No differences were found between Xm and Xp groups and the improvement of growth velocity (GV) during the first and second year of rhGH administration, while for both groups GV significantly improved with rhGH by the end of the first and the second year. To our knowledge, this is the first attempt to correlate the parental origin of Turner syndrome with the response to rhGH therapy.

Long-term effects of previous oxandrolone treatment in adult women with Turner syndrome

NARCIS (Netherlands)

K. Freriks (Kim); T.C.J. Sas (Theo); T. Traas (Theo); R.T. Netea-Maier (Romana ); M. den Heijer (Martin); A.R.M.M. Hermus (Ad); J.M. Wit (Jan); J.A.E.M. Van Alfen-van Der Velden (Janiëlle A. E.); B.J. Otten (Barto); S.M.P.F. de Muinck Keizer-Schrama (Sabine); M. Gotthardt (Martin); P.H. Dejonckere (Philippe); G.R.J. Zandwijken (Gladys); L.A. Menke (Leonie); H.J.L.M. Timmers

2013-01-01

textabstractObjective: Short stature is a prominent feature of Turner syndrome (TS), which is partially overcome by GH treatment. We have previously reported the results of a trial on the effect of oxandrolone (Ox) in girls with TS. Ox in a dose of 0.03 mg/kg per day (Ox 0.03) significantly

Long-term effects of previous oxandrolone treatment in adult women with Turner syndrome

NARCIS (Netherlands)

Freriks, K.; Sas, T.C.J.; Traas, M.A.F.; Netea-Maier, R.T.; Heijer, M. den; Hermus, A.R.M.M.; Wit, J.M.; Alfen-van der Velden, J. van; Otten, B.J.; Muinck Keizer-Schrama, S.M.P.F. de; Gotthardt, M.; Dejonckere, P.H.; Zandwijken, G.R.; Menke, L.A.; Timmers, H.J.L.M.

2013-01-01

OBJECTIVE: Short stature is a prominent feature of Turner syndrome (TS), which is partially overcome by GH treatment. We have previously reported the results of a trial on the effect of oxandrolone (Ox) in girls with TS. Ox in a dose of 0.03 mg/kg per day (Ox 0.03) significantly increased adult

Clinical disease characteristics according to karyotype in Turner syndrome

Directory of Open Access Journals (Sweden)

Chae Young Yeo

2010-02-01

Full Text Available Purpose : Turner syndrome (TS is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype. Methods : We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals from Jan 1998 to Dec 2007. We evaluated these cases by prepared protocol of 4 medical problems. Results : The distribution of karyotype was 45,X (47.8%, mosaic pattern (34.4% and structural aberration group (17.8 %. Renal anomalies, cardiovascular anomalies, thyroid disorders and auditory problems are accompanied in 4.4%, 10.0 %, 11.1% and 5.6%, respectively. 45,X group had renal anomalies (7.0%, cardiovascular anomalies (18.6%, thyroid disorders (9.3% and auditory problems (11.6%. Mosaic group had renal anomalies (3.2%, thyroid disorders (12.9%, no cardiovascular anomalies and auditory problems. Structural aberration group had cardiovascular anomalies (6.3%, thyroid disorders (12.5% and no other 2 problems. Patients with 45,X group had a significant higher incidence of cardiovascular anomalies (P=0.025. Conclusion : Our results indicate that there are differences clinically according to karyotype of TS, especially in incidence of cardiovascular anomalies.

Effect of oxandrolone on glucose metabolism in growth hormone-treated girls with Turner syndrome

NARCIS (Netherlands)

Menke, L.A.; Sas, T.C.J.; Stijnen, T.; Zandwijken, G.R.; Muinck Keizer-Schrama, S.M.P.F. de; Otten, B.J.; Wit, J.M.

2011-01-01

BACKGROUND: The weak androgen oxandrolone (Ox) may increase height but may also affect glucose metabolism in girls with Turner syndrome (TS). METHODS: In a randomized, placebo-controlled, double-blind study, we assessed the effect of Ox at a dosage of either 0.06 or 0.03 mg/kg/day on glucose

The effect of oxandrolone on voice frequency in growth hormone-treated girls with Turner syndrome

NARCIS (Netherlands)

Menke, L.A.; Sas, T.C.J.; Koningsbrugge, S.H. van; Ridder, M.A. de; Zandwijken, G.R.; Boersma, B.; Dejonckere, P.H.; Muinck Keizer-Schrama, S.M.P.F. de; Otten, B.J.; Wit, J.M.

2011-01-01

OBJECTIVES/HYPOTHESIS: Oxandrolone (Ox) increases height gain but may also cause voice deepening in growth hormone (GH)-treated girls with Turner syndrome (TS). We assessed the effect of Ox on objective and subjective speaking voice frequency in GH-treated girls with TS. STUDY DESIGN: A multicenter,

Improving self-esteem in women diagnosed with Turner syndrome: results of a pilot intervention.

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Chadwick, Paul M; Smyth, Arlene; Liao, Lih-Mei

2014-06-01

To evaluate a brief intervention to improve the self esteem of women diagnosed with Turner syndrome (TS). Prospective observational study. Turner Syndrome Support Society, UK. 30 women aged 18-60 years. A 1-day psychology workshop targeting problems of self-esteem in women diagnosed with TS. The workshop drew on cognitive-behavioral therapy and narrative therapy skills and emphasized increased self-awareness of interpersonal difficulties and improved capacity for self-management. Rosenberg Self-esteem Scale (RSS); Hospital Anxiety and Depression Scale (HADS); bespoke user experiences questionnaire. All 30 women provided baseline data, 27/30 provided immediate post-intervention data and 22/30 provided follow-up data at 3 months. The intervention improved RSS and HADS scores at 3 months. Generic skills-based psychological interventions have the potential to be adapted to provide brief and low-cost interventions to improve self-esteem and reduce psychological distress in women diagnosed with TS. Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Síndrome de Turner y tiroiditis autoinmune Turner´s syndrome and autoimmune thyroiditis

Directory of Open Access Journals (Sweden)

Tamara Fernández Teruel

2003-12-01

´s maneuver, no pubic hair, external feminine genitalia and stage I breast development (Tanner I. Supplementary studies performed: TSH 32,6 mU/L, positive anti-michrosomal antibodies, positive anti-pancreatic islets antibodies, oral chromatin of 12%, FSH 68,8 UI/L (high, LH of 12,5 UI/L (high, estrogen value of 18 pmol/L (reduced, prolactin value of 72 mU/L (reduced. In conclusion, this was a patient with a diagnosis of Turner´s syndrome and autoimmune thyroid disease together with clinical hypothyroidism.

Comparison of Visual-Spatial Performance Strategy Training in Children with Turner Syndrome and Learning Disabilities.

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Williams, Janet K.; And Others

1992-01-01

Thirteen females with Turner syndrome, 13 females with nonverbal learning disabilities, and 14 males with nonverbal learning disabilities, ages 7-14, were taught via a cognitive behavioral modification approach to verbally mediate a spatial matching task. All three groups showed significant task improvement after the training, with no significant…

Bicuspid aortic valve morphology and associated cardiovascular abnormalities in fetal Turner syndrome: a pathomorphological study

NARCIS (Netherlands)

van Engelen, Klaartje; Bartelings, Margot M.; Gittenberger-de Groot, Adriana C.; Baars, Marieke J. H.; Postma, Alex V.; Bijlsma, Emilia K.; Mulder, Barbara J. M.; Jongbloed, Monique R. M.

2014-01-01

Bicuspid aortic valve (BAV) is common in Turner syndrome (TS). In adult TS, 82-95% of BAVs have fusion of the right and left coronary leaflets. Data in fetal stages are scarce. The purpose of this study was to gain insight into aortic valve morphology and associated cardiovascular abnormalities in a

Current best practice in the management of Turner syndrome

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Shankar, Roopa Kanakatti; Backeljauw, Philippe F.

2017-01-01

Turner syndrome (TS) is characterized by partial or complete loss of the second X-chromosome in phenotypic females resulting in a constellation of clinical findings that may include lymphedema, cardiac anomalies, short stature, primary ovarian failure and neurocognitive difficulties. Optimizing health care delivery is important to enable these individuals achieve their full potential. We review the current best practice management recommendations for individuals with TS focusing on the latest consensus opinion in regard to genetic diagnosis, treatment of short stature, estrogen supplementation, addressing psychosocial issues, as well screening for other comorbidities. A multidisciplinary approach and a well-planned transition to adult follow-up care will improve health care delivery significantly for this population. PMID:29344338

Long QT interval in Turner syndrome: a high prevalence of LQTS gene mutations

DEFF Research Database (Denmark)

Trolle, Christian

Objective: QT interval prolongation of unknown aetiology is common in Turner syndrome (TS). This study set out to explore the presence of known pathogenic long QT (LQT) mutations in TS and to examine the corrected QT interval (QTc) over time and relate the findings to the TS phenotype. Methods......QTc). The prevalence of mutations in genes related to Long QT syndrome (LQTS) was determined in females with TS and a QTc >432.0 milliseconds (ms). Echocardiographic assessment of aortic valve morphology, 24-hour blood pressures and blood samples were done. Results: The mean hQTc in females with TS (414.0±25.5 ms...

Ovarion mucinous cystadenoma in a female a with Turner syndrome

International Nuclear Information System (INIS)

Sait, Khalid H.; Alkhattabi, Maysoon A.; Alqahtani, Abulmohen O.; Alkushi, Mohammad H.

2004-01-01

The development of an epithelial tumor, especially mucin ous type, in a female with a streak gonad is rare and not fully understood. We report a case of a 19-year-old; a single female known to have Turner syndrome presented with an increased abdominal girth and was found to have a huge pelvic and abdominal mass. Ultrasound and magnetic resonance imaging revealed a huge cystic ovarian mass with no ascites. Laparotomy and right oophorectomy were performed for the ovarian mass. Histology revealed a large mucin ous cyst adenoma. Further study of these tumors may help to edtacal the underlying cause and pathogenesis. (author)

RESULTS OF LONG-TERM THERAPY WITH GROWTH-HORMONE IN 2 DOSE REGIMENS IN TURNER SYNDROME

NARCIS (Netherlands)

NIENHUIS, HE; RONGENWESTERLAKEN, C; WIT, JM; OTTEN, BJ; KEIZERSCHRAMA, SMPFD; DRAYER, NM; DELEMARREVANDEWAAL, HA; VULSMA, T; OOSTDIJK, W; WAELKENS, JJJ

1993-01-01

Girls with Turner syndrome were divided according to age (group A 6-12 years, and group B 12-19 years) and human growth hormone (GH) dose regimen (A1 and B1, three injections/week; A2 and B2, six injections/week). All groups responded to GH, 24 IU/M2/week, with an increase in height velocity, though

Resting energy expenditure in girls with Turner syndrome.

Science.gov (United States)

Binder, Gerhard; Frank, Laura; Ziegler, Julian; Blumenstock, Gunnar; Schweizer, Roland

2017-03-01

Knowledge concerning energy metabolism in Turner syndrome (TS) is lacking. We compared the resting energy expenditure per fat-free mass (REE/FFM) in TS with other girls with short stature treated with growth hormone (GH) and age-related controls. We measured prospectively REE by spirometry under fasting conditions in the morning in 85 short prepubertal girls at the start of GH treatment. Diagnoses were TS (n=20), GH deficiency (GHD) (n=38) and small for gestational age (SGA) short stature (n=27). Additionally, 20 age-related controls were studied. Mean ages were 8.3 (TS), 7.1 (GHD), 6.9 (SGA) and 8.5 years (controls). Mean heights were -2.90 (TS), -3.32 (GHD), -3.69 (SGA) and -0.03 standard deviation scores (SDS) (controls). FFM was measured by bioelectrical impedance analysis (BIA). At the start of GH girls with TS showed insignificantly higher REE per FFM (REE/FFM) (mean±SD; 65±9 kcal/kg×day) than did the other female patients (62±9 kcal/kg×day) (p>0.23). The healthy controls had significantly lower REE/FFM (35±4 kcal/kg×day) (p<0.001). Follow-up examination of the patients after 6 or 12 months revealed decreasing REE/FFM in TS (62±9 kcal/kg×day) resulting in comparable REE/FFM in all three patient groups. At baseline short girls with TS had insignificantly higher REE/FFM than short children with SGA or GHD, but in follow-up this difference was not detectable any more. Future studies are necessary to understand this observation.

Left-sided congenital heart lesions in mosaic Turner syndrome.

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Bouayed Abdelmoula, Nouha; Abdelmoula, Balkiss; Smaoui, Walid; Trabelsi, Imen; Louati, Rim; Aloulou, Samir; Aloulou, Wafa; Abid, Fatma; Kammoun, Senda; Trigui, Khaled; Bedoui, Olfa; Denguir, Hichem; Mallek, Souad; Ben Aziza, Mustapha; Dammak, Jamila; Kaabi, Oldez; Abdellaoui, Nawel; Turki, Fatma; Kaabi, Asma; Kamoun, Wafa; Jabeur, Jihen; Ltaif, Wided; Chaker, Kays; Fourati, Haytham; M'rabet, Samir; Ben Ameur, Hedi; Gouia, Naourez; Mhiri, Mohamed Nabil; Rebai, Tarek

2018-04-01

In the era of the diseasomes and interactome networks, linking genetics with phenotypic traits in Turner syndrome should be studied thoroughly. As a part of this stratagem, mosaicism of both X and Y chromosome which is a common finding in TS and an evaluation of congenital heart diseases in the different situations of mosaic TS types, can be helpful in the identification of disturbed sex chromosomes, genes and signaling pathway actors. Here we report the case of a mosaic TS associated to four left-sided CHD, including BAV, COA, aortic aneurysms and dissections at an early age. The mosaicism included two cell lines, well-defined at the cytogenetic and molecular levels: a cell line which is monosomic for Xp and Xq genes (45,X) and another which is trisomic for pseudoautosomal genes that are present on the X and Y chromosomes and escape X inactivation: 45,X[8]/46,X,idic(Y)(pter→q11.2::q11.2→pter)[42]. This case generates two hypotheses about the contribution of genes linked to the sex chromosomes and the signaling pathways involving these genes, in left-sided heart diseases. The first hypothesis suggests the interaction between X chromosome and autosomal genes or loci of aortic development, possibly dose-dependent, and which could be in the framework of TGF-β-SMAD signaling pathways. The second implies that left-sided congenital heart lesions involve sex chromosomes loci. The reduced dosage of X chromosome gene(s), escaping X inactivation during development, contributes to this type of CHD. Regarding our case, these X chromosome genes may have homologues at the Y chromosome, but the process of inactivation of the centromeres of the isodicentric Y spreads to the concerned Y chromosome genes. Therefore, this case emerges as an invitation to consider the mosaics of Turner syndrome and to study their phenotypes in correlation with their genotypes to discover the underlying developmental and genetic mechanisms, especially the ones related to sex chromosomes.

Feto portador de síndrome de turner e tetralogia de fallot associadas à elevação de alfafetoproteína materna Fetal turner syndrome and tetralogy of fallot associated with elevated maternal serum alpha-fetoprotein levels

Directory of Open Access Journals (Sweden)

Eduardo Vieira Neto

1998-06-01

Full Text Available A síndrome de Turner fetal e suas complicações, a hidropisia e o higroma cístico, podem produzir alteração dos marcadores bioquímicos de soro materno inicialmente utilizados no rastreamento de síndrome de Down e de defeitos de tubo neural (DTN. Os autores relatam o caso de uma gestante de 37 anos, que foi rastreada para síndrome de Down e DTN no início do 2º trimestre. Foi constatado aumento da alfafetoproteína de soro materno (MSAFP e o rastreamento foi considerado positivo para DTN. Foi realizado exame ultra-sonográfico tridimensional, que não demonstrou nenhuma anormalidade fetal ou placentária, caracterizando o caso como elevação idiopática de MSAFP. No 3º trimestre, a gravidez evoluiu com acentuada oligoidrâmnia e alteração do fluxo uteroplacentário, obrigando à instituição de terapia com corticosteróides e parto cesáreo na 34ª semana gestacional. O concepto do sexo feminino foi encaminhado à UTI neonatal, onde foram diagnosticadas tetralogia de Fallot e síndrome de Turner. Esse caso incentivou os autores a rever a literatura sobre marcadores bioquímicos de soro materno na síndrome de Turner e nas malformações cardíacas congênitas. Ao final, propõe-se um protocolo para elevação idiopática de MSAFP.Turner syndrome and its complications, hydrops and cystic hygroma, can produce alterations in maternal serum biochemical markers used in screening for Down's syndrome and neural tube defects (NTD. The authors report the case of a 37-year-old pregnant woman, screened for Down's syndrome and NTD in the second trimester of pregnancy. The maternal serum alpha-fetoprotein (MSAFP level was increased and the test was considered screen positive for NTD. A three-dimensional ultrasound investigation was performed, but no fetal or placental anomalies were found, indicating a case of unexplained increased msafp. In the third trimester severe oligohydramnios and disturbances in uteroplacental arterial circulation

Dosage of estradiol, bone and body composition in Turner syndrome: a 5-year randomized controlled clinical trial

DEFF Research Database (Denmark)

Cleemann, Line; Holm, Kirsten; Kobbernagel, Hanne

2017-01-01

OBJECTIVE: Reduced bone mineral density (BMD) is seen in Turner syndrome (TS) with an increased risk of fractures, and body composition is characterized by increased body fat and decreased lean body mass. To evaluate the effect of two different doses of oral 17ß-estradiol in young TS women on bone...

A population-based analysis of mortality in patients with Turner syndrome and hypoplastic left heart syndrome using the Texas Birth Defects Registry.

Science.gov (United States)

Lara, Diego A; Ethen, Mary K; Canfield, Mark A; Nembhard, Wendy N; Morris, Shaine A

2017-01-01

Hypoplastic left heart syndrome (HLHS) is strongly associated with Turner syndrome (TS); outcome data when these conditions coexist is sparse. We aimed to investigate long-term survival and causes of death in this population. The Texas Birth Defects Registry was queried for all live born infants with HLHS during 1999-2007. We used Kaplan-Meier and Cox regression analyses to compare survival among patients with HLHS with TS (HLHS/TS+) to patients who had HLHS without genetic disorders or extracardiac birth defects (HLHS/TS-). Of the 542 patients with HLHS, 11 had TS (2.0%), 71 had other extracardiac birth defects or genetic disorders, and 463 had neither. The median follow-up time was 4.2 y (interquartile range [IQR] 2.1-6.5). Comparing those with HLHS/TS+ to HLHS/TS-, 100% versus 35% were female (P < .001), and median birth weight was 2140 g (IQR 1809-2650) versus 3196 g (IQR 2807-3540, P < .001). Neonatal mortality was 36% in HLHS/TS+ versus 27% in HLHS/TS- (log rank = 0.431). Ten of the 11 TS+ patients died during the study period for cumulative mortality of 91% versus 50% (hazard ratio (HR) for TS+: 2.90, 95% CI 1.53-5.48). Six patients died prior to surgery, 5 underwent Stage 1 palliation (S1P), 3 died after S1P, 2 survived past S2P, and one of these died at age 19 mo. The underlying cause of death was listed as congenital heart disease on all the death certificates of HLHS/TS+ patients. In multivariable analysis controlling for low birth weight (<2500 g), TS remained associated with significantly increased cumulative mortality, although females without TS had higher mortality than males (HR for TS+ versus males: 2.42, 95% CI 1.24-4.73; HR for TS- females versus males: 1.41, 95% CI 1.08-1.83). TS with HLHS is associated with significant mortality. The increased mortality in females without documented TS calls to question if TS is undetected in a portion of females with HLHS. © 2016 Wiley Periodicals, Inc.

The effect of oxandrolone on body proportions and body composition in growth hormone-treated girls with Turner syndrome.

NARCIS (Netherlands)

Menke, L.A.; Sas, T.C.J.; Zandwijken, G.R.; Ridder, M.A. de; Stijnen, T.; Muinck Keizer-Schrama, S.M.P.F. de; Otten, B.J.; Wit, J.M.

2010-01-01

OBJECTIVE: Untreated girls with Turner syndrome (TS) have short stature, relatively broad shoulders, a broad pelvis, short legs, a high fat mass and low muscle mass. Our objective was to assess the effect of the weak androgen oxandrolone (Ox) on body proportions and composition in growth hormone

Anti-AMPA-Receptor Encephalitis Presenting as a Rapid-Cycling Bipolar Disorder in a Young Woman with Turner Syndrome

Directory of Open Access Journals (Sweden)

Giuseppe Quaranta

2015-01-01

Full Text Available Background. Autoimmune encephalitis is a disorder characterised by the subacute onset of seizures, short-term memory loss, and psychiatric and behavioural symptoms. Initially, it was recognised as a paraneoplastic disorder, but recently a subgroup of patients without systemic cancer was identified. Case Description. We describe a 20-year-old woman with Turner syndrome presenting with a treatment-resistant rapid cycling bipolar disorder with cognitive impairment. She was diagnosed with anti-AMPA-receptor encephalitis. She showed marked improvement after starting memantine and valproic acid. Conclusion. This case description emphasises the importance of timely recognition of autoimmune limbic encephalitis in patients with psychiatric manifestations and a possible predisposition to autoimmune conditions, in order to rule out malignancy and to quickly initiate treatment.

Compromised trabecular microarchitecture and lower finite element estimates of radius and tibia bone strength in adults with turner syndrome

DEFF Research Database (Denmark)

Hansen, Stinus; Brixen, Kim; Gravholt, Claus H

2012-01-01

Although bone mass appear ample for bone size in Turner syndrome (TS), epidemiological studies have reported an increased risk of fracture in TS. We used high-resolution peripheral quantitative computed tomography (HR-pQCT) to measure standard morphological parameters of bone geometry...

[Shereshevsky-Turner syndrome: Estrogen replacement therapy and cardiovascular risk factors].

Science.gov (United States)

Yevstigneeva, O A; Andreeva, E N; Grigoryan, O R; Volevodz, N N; Melnichenko, G A; Dedov, I I

To investigate the impact of menopausal hormone therapy (MHT) on the expression of risk factors for cardiovascular events (CVEs) in patients with Shereshevsky-Turner syndrome (STS); to elaborate an algorithm for patient management using MHT. From 2010 to 2012, a total of 41 patients aged 14 to 35 years with STS were examined in the framework of a prospective observational study. 100 STS case histories in 2000 to 2009 were retrospectively analyzed. The indicators of the so-called cardiometabolic risk, such as body mass index (BMI), lipidogram readings, venous plasma glucose levels, and blood pressure, were estimated in relation to the type of MHT. In the prospective part of the investigation, an angioscan was used to estimate vessel characteristics (stiffness, wall tone, endothelial function (EF)), by using the examination data. 90% of the patients with STS were found to have risk factors for CVEs: atherogenic dyslipidemia (85%; 51% in the general female population of the same age), diastolic hypertension (36%; no more than 5% that is not typical for age-matched healthy general female population). In addition to increased arterial wall stiffness (AWS), obvious EF disorder is typical for STS patients. MHT was accompanied by a dose-dependent (estradiol, at least 2 mg) reduction in diastolic blood pressure by an average of 13% over 24 months, an increase in high density lipoprotein levels by more than 10% over 24 months and also contributedto a decrease in AWS and an improvement in EF. By favorably affecting the EF of vessels and reducing the severity of atherogenic dyslipidemia, MHT potentially enables a reduction in CV risk in patients with STS.

Body proportions during long-term growth hormone treatment in girls with Turner syndrome participating in a randomized dose-response trial

NARCIS (Netherlands)

T.C.J. Sas (Theo); W.J. Gerver; R. de Bruin (Rob); Th. Stijnen (Theo); S.M.P.F. de Muinck Keizer-Schrama (Sabine); T.J. Cole (Trevor); A. van Teunenbroek (Arne); S.L.S. Drop (Stenvert)

1999-01-01

textabstractTo assess body proportions in girls with Turner syndrome (TS) during long term GH treatment, height, sitting height (SH), hand (Hand) and foot (Foot) lengths, and biacromial (Biac) and biiliacal (Biil) diameters were measured in 68 girls with TS

First-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan.

Science.gov (United States)

Wagner, P; Sonek, J; Hoopmann, M; Abele, H; Kagan, K O

2016-10-01

To examine the performance of first-trimester ultrasound screening for trisomies 18 and 13, triploidy and Turner syndrome based on fetal nuchal translucency thickness (NT), additional fetal ultrasound markers including anatomy of the nasal bone (NB), blood flow across the tricuspid valve (TV) and through the ductus venosus (DV) and a detailed fetal anomaly scan at 11-13 weeks' gestation. This was a retrospective case-matched study involving pregnant women at 11-13 weeks' gestation. The study population consisted of fetuses with trisomy 18, trisomy 13, triploidy or Turner syndrome. For each fetus with an abnormal karyotype, 50 randomly selected euploid fetuses were added to the study population. In all cases, the crown-rump length and NT were measured. In addition NB, TV flow and DV flow were examined. The summed risk for trisomies 21, 18 and 13 was computed based on: first, maternal age (MA); second, MA and fetal NT; third, MA, NT and one of the markers NB, TV flow or DV flow; fourth, MA, NT and all these markers combined; fifth, MA, NT and fetal anomalies; and, finally, MA, NT, all markers and fetal anomalies. The study population consisted of 4550 euploid and 91 aneuploid fetuses. Median NT was 1.8 mm in euploid fetuses and 4.8, 6.8, 1.8 and 10.0 mm in fetuses with trisomy 18, trisomy 13, triploidy and Turner syndrome, respectively. The NB, TV flow and DV flow were abnormal in 48 (1.1%), 34 (0.7%) and 99 (2.2%) euploid fetuses, respectively, and in 42 (46.2%), 31 (34.1%) and 62 (68.1%) aneuploid fetuses, respectively. At least one defect was found in 60 (1.3%) euploid and in 76 (83.5%) aneuploid fetuses. For a false-positive rate of 3%, the detection rate for screening based on MA and fetal NT was 75.8%. It increased to 84.6-86.8% when including one of the additional ultrasound markers and it was 90.1% when all three markers were included. When screening was based on MA, fetal NT and a detailed anomaly scan, the detection rate was 94.5% and increased to 95

QTc interval prolongation in children with Turner syndrome: the results of exercise testing and 24-h ECG.

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Dalla Pozza, Robert; Bechtold, Susanne; Urschel, Simon; Netz, Heinrich; Schwarz, Hans-Peter

2009-01-01

Turner syndrome (TS) is the most common sex chromosome abnormality in females. Recently, a prolongation of the rate-corrected QT (QTc) interval in the electrocardiogram (ECG) of TS patients has been reported. A prolonged QTc interval has been correlated to an increased risk for sudden cardiac death, and medical treatment is warranted in patients with congenital long QT syndrome (LQTS). Additionally, several drugs of common use are contraindicated in LQTS because of their effects on myocardial repolarization. The importance of the QTc prolongation in TS patients is not known at present. Eighteen TS patients with a prolonged QTc interval (group 1) and 11 TS patients with a normal QTc interval (group 2) (mean age 12.6+/-3.1 vs. 11.8+/-2.1 years, respectively) were tested. The QTc interval was calculated during exercise testing and during 24-h ECG recordings. None of the patients experienced adverse cardiac events during the tests. The mean QTc interval decreased from 0.467 to 0.432 s in group 1 and from 0.432 to 0.412 s in group 2. During the 24-h ECG, the maximum QTc interval was significantly prolonged in group 1 (0.51 vs. 0.465 s, pinformation about the cardiac risk in the single TS patient with a prolonged QTc interval. This helps in counseling these girls, as clear therapeutic guidelines are currently lacking.

Efficacy of estrogen replacement therapy (ERT) on uterine growth and acquisition of bone mass in patients with Turner syndrome.

Science.gov (United States)

Nakamura, Tomomi; Tsuburai, Taku; Tokinaga, Aya; Nakajima, Izumi; Kitayama, Reiko; Imai, Yuichi; Nagata, Tomoko; Yoshida, Hiroshi; Hirahara, Fumiki; Sakakibara, Hideya

2015-01-01

Estrogen replacement therapy (ERT) is necessary for uterine development and bone mass acquisition in women with Turner syndrome (TS) suffering from ovarian insufficiency. However, adequate ERT regimens have not yet been established. The aim of this study was to evaluate the efficacy of ERT for both uterine development and bone mass acquisition. One hundred TS patients from Yokohama City University Hospital (88 with primary amenorrhea (PA) and 12 patients with spontaneous menstrual cycles (MC)) were enrolled after obtaining consent. Clinical profiles, uterine length (UL) measured by ultrasonic examination, and bone mineral density (BMD) of the lumbar vertebrae (L2-4) assessed by DEXA were evaluated. At the time of the first visit, the ULs of patients in the PA group were significantly shorter than those in the MC group. After receiving ERT, there were no significant differences in UL between patients with PA and MC. Forty-seven patients for whom the ERT initiation age was known were investigated to clarify the influence on BMD. The results showed that the BMD in the late initiation (18 years or older) group at the latest visit (0.770 ± 0.107 g/cm2: n = 16) was significantly lower than that in the early initiation (under 18 years) group (0.858 ± 0.119 g/cm2: n = 21) or the MC group (0.941 ± 0.118 g/cm2: n = 10). No significant differences were seen between the early initiation and MC group. ERT was effective in increasing UL and BMD. However, early initiation of ERT is necessary to increase BMD.

A unique case of Turner syndrome accompanying prolactinoma and unexpected elongated styloid process: Clinical and cone-beam computed tomographic features

International Nuclear Information System (INIS)

Evlice, Burcu; Tatli, Ufuk; Yazicioglu, Iffet; Oztunc, Haluk; Evlice, Ahmet

2013-01-01

Turner syndrome (TS) is one of the most common chromosomal abnormalities, with an estimated frequency among female live births of 1/2,000-3,000. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). We reported a unique case of a 40-year-old woman with TS accompanying unexpected elongated styloid process specific to Eagle syndrome (ES) and followed up-prolactinoma. The present article is the first report to define the cone-beam computed tomographic (CBCT) features of TS accompanying ES. Patients with TS carry various risks that make treatment more complicated; thus advanced imaging techniques for proper treatment and follow-up are extremely important. In the light of CBCT examination, craniofacial abnormalities specific to TS and accompanying syndromes such as the crowding of teeth especially in the maxillary anterior region caused by maxillary narrowness, micrognatic maxilla and mandible, relative mandibular retrusion, malocclusion, open-bite, and an elongated styloid process (length of 32.7 mm) on the right side were illustrated in detail.

A unique case of Turner syndrome accompanying prolactinoma and unexpected elongated styloid process: Clinical and cone-beam computed tomographic features

Energy Technology Data Exchange (ETDEWEB)

Evlice, Burcu; Tatli, Ufuk; Yazicioglu, Iffet; Oztunc, Haluk [Faculty of Dentistry, Cukurova University, Adana (Turkey); Evlice, Ahmet [Faculty of Medicine, Cukurova University, Adana (Turkey)

2013-06-15

Turner syndrome (TS) is one of the most common chromosomal abnormalities, with an estimated frequency among female live births of 1/2,000-3,000. The syndrome is characterized by the partial or complete absence of one X chromosome (45,X karyotype). We reported a unique case of a 40-year-old woman with TS accompanying unexpected elongated styloid process specific to Eagle syndrome (ES) and followed up-prolactinoma. The present article is the first report to define the cone-beam computed tomographic (CBCT) features of TS accompanying ES. Patients with TS carry various risks that make treatment more complicated; thus advanced imaging techniques for proper treatment and follow-up are extremely important. In the light of CBCT examination, craniofacial abnormalities specific to TS and accompanying syndromes such as the crowding of teeth especially in the maxillary anterior region caused by maxillary narrowness, micrognatic maxilla and mandible, relative mandibular retrusion, malocclusion, open-bite, and an elongated styloid process (length of 32.7 mm) on the right side were illustrated in detail.

Long-term effects of oxandrolone treatment in childhood on neurocognition, wellbeing and social-emotional functioning in young adults with Turner syndrome

NARCIS (Netherlands)

Freriks, K.; Verhaak, C.M.; Sas, T.C.J.; Menke, L.A.; Wit, J.M.; Otten, B.J.; Muinck Keizer-Schrama, S.M.P.F. de; Smeets, D.F.C.M.; Netea-Maier, R.T.; Hermus, A.R.M.M.; Kessels, R.P.C.; Timmers, H.J.L.M.

2015-01-01

Turner syndrome (TS) is the result of (partial) absence of one X-chromosome. Besides short stature, gonadal dysgenesis and other physical aspects, TS women have typical psychological features. Since psychological effects of androgen exposure in childhood probably are long-lasting, we explored

Cardiovascular and renal anomalies in Turner syndrome Anomalias cardiovasculares e renais na síndrome de Turner

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Annelise Barreto Carvalho

2010-01-01

Full Text Available OBJECTIVE: To evaluate the frequency and type of cardiovascular (CV and renal/collecting system (R/CS abnormalities seen in a sample of patients with Turner Syndrome (TS and to verify the proportion of those anomalies detected only after diagnosis was established. METHODS: Retrospective study of 130 patients with TS diagnosed in an outpatient setting between 1989 and 2006. The mean age at diagnosis was 11.9 years. Data were obtained by personal history of CV and R/CS disorders and by results of echocardiogram and ultrasonography of the kidneys and collecting system performed after diagnosis. RESULTS: 25.6% of patients who underwent echocardiograms presented CV abnormalities. Among them, mitral regurgitation (21.4%, bicuspid aortic valve (19% and aortic coarctation (19% were the most frequent. R/CS anomalies were found in 29.3% of patients who underwent ultrasonography. Among them, duplication of the collecting system and hydronephrosis (25% each and horseshoe kidney (21.2% were the most frequent. In about 80% of cases there was no previous knowledge of these anomalies. CONCLUSION: The frequency of CV and R/CS abnormalities found in this study was similar to that of previous studies, but most were found in routine exams after TS diagnosis. Thus, early detection of associated anomalies depends on early detection of TS.OBJETIVO: Analisar a frequência e os tipos de anomalias cardiovasculares (CV e de anomalias renais ou de sistema coletor (R/SC em uma amostra de pacientes com síndrome de Turner (ST e verificar a proporção dessas anomalias que só foram detectadas após o estabelecimento do diagnóstico. MÉTODOS: Estudo retrospectivo de 130 pacientes com ST diagnosticadas em serviço ambulatorial entre 1989 e 2006. A média de idade ao diagnóstico foi 11,9 anos. Foram coletados dados sobre antecedentes pessoais de anomalias CV e R/SC e resultados de ecocardiograma e ultrassonografia de rins e vias urinárias realizados após o diagn

The effect of the weak androgen oxandrolone on psychological and behavioral characteristics in growth hormone-treated girls with Turner syndrome.

NARCIS (Netherlands)

Menke, L.A.; Sas, T.C.J.; Visser, M. de; Kreukels, B.P.; Stijnen, T.; Zandwijken, G.R.; Muinck Keizer-Schrama, S.M.P.F. de; Otten, B.J.; Wit, J.M.; Cohen-Kettenis, P.T.

2010-01-01

The weak androgen oxandrolone (Ox) increases height gain in growth-hormone (GH) treated girls with Turner syndrome (TS), but may also give rise to virilizing side effects. To assess the effect of Ox, at a conventional and low dosage, on behavior, aggression, romantic and sexual interest, mood, and

The effect of the weak androgen oxandrolone on psychological and behavioral characteristics in growth hormone-treated girls with Turner syndrome

NARCIS (Netherlands)

Menke, L.A.; Sas, T.C.J.; Visser, M.; Kreukels, B.P.C.; Stijnen, T.; Zandwijken, G.R.J.; Keizer-Schrama, S.M.P.F.; Otten, B.J.; Wit, J.M.; Cohen-Kettenis, P.T.

2010-01-01

The weak androgen oxandrolone (Ox) increases height gain in growth-hormone (GH) treated girls with Turner syndrome (TS), but may also give rise to virilizing side effects. To assess the effect of Ox, at a conventional and low dosage, on behavior, aggression, romantic and sexual interest, mood, and

Dilation of the ascending aorta in Turner syndrome - a prospective cardiovascular magnetic resonance study

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Pedersen Erik M

2011-04-01

Full Text Available Abstract Background The risk of aortic dissection is 100-fold increased in Turner syndrome (TS. Unfortunately, risk stratification is inadequate due to a lack of insight into the natural course of the syndrome-associated aortopathy. Therefore, this study aimed to prospectively assess aortic dimensions in TS. Methods Eighty adult TS patients were examined twice with a mean follow-up of 2.4 ± 0.4 years, and 67 healthy age and gender-matched controls were examined once. Aortic dimensions were measured at nine predefined positions using 3D, non-contrast and free-breathing cardiovascular magnetic resonance. Transthoracic echocardiography and 24-hour ambulatory blood pressure were also performed. Results At baseline, aortic diameters (body surface area indexed were larger at all positions in TS. Aortic dilation was more prevalent at all positions excluding the distal transverse aortic arch. Aortic diameter increased in the aortic sinus, at the sinotubular junction and in the mid-ascending aorta with growth rates of 0.1 - 0.4 mm/year. Aortic diameters at all other positions were unchanged. The bicuspid aortic valve conferred higher aortic sinus growth rates (p Conclusion A general aortopathy is present in TS with enlargement of the ascending aorta, which is accelerated in the presence of a bicuspid aortic valve.

Celiac disease in patients with Williams-Beuren syndrome.

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Mıhçı, Ercan; Nur, Banu Güzel; Berker-Karaüzüm, Sibel; Yılmaz, Aygen; Artan, Reha

2015-01-01

Celiac disease is an autoimmune, gastrointestinal disorder characterized by intolerance to the dietary grain protein gluten. An increased prevalence of celiac disease has been reported in Down syndrome and Turner syndrome, but there has been only few previous reports with respect to the association of celiac disease in Williams-Beuren syndrome. The aim of this study was to evaluate the frequency of celiac disease in our 24 Williams-Beuren syndrome patients. Gastrointestinal problems and celiac disease symptoms of patients were noted. All patients were analyzed by the titer of tissue transglutaminases IgA and IgG. HLA genotyping and intestinal biopsy was performed to the patients with positive serology. We also performed gluten free diet in the presence of compatible symptoms, serology, HLA genotyping and intestinal biopsy. In our study, two patients had positive tTG antibodies, but only one had positive biopsy finding for celiac disease. The frequency of celiac disease in patients with Williams-Beuren syndrome was estimated as 1/24 (4.1%). Though the number of participants in this study was limited, the results show that the frequency of celiac disease is higher in Williams-Beuren syndrome compared to the general population. We suggest that a high suspicion and testing for celiac disease should be recommended at certain intervals in all cases with Williams-Beuren syndrome to detect the cause of growth retardation and gastrointestinal problems.

Fatal dissection of the descending aorta after implantation of a stent in a 19-year-old female with Turner's syndrome.

NARCIS (Netherlands)

Fejzic, Z.; Oort, A.M. van

2005-01-01

We report a fatal dissection of the descending aorta as a complication after a two-staged implantation of a stent to relieve aortic coarctation in a young female with Turner's syndrome. Implantation of the stent, with dilation up to 70 percent, and half a year later re-dilation to 100 percent, was

Effect of discontinuation of long-term growth hormone treatment on carbohydrate metabolism and risk factors for cardiovascular disease in girls with Turner syndrome

NARCIS (Netherlands)

Y.K. van Pareren (Yvonne); S.M.P.F. de Muinck Keizer-Schrama (Sabine); Th. Stijnen (Theo); T.C.J. Sas (Theo); S.L.S. Drop (Stenvert)

2002-01-01

textabstractGH treatment increases insulin levels in girls with Turner syndrome (TS), who are already predisposed to develop diabetes mellitus and other risk factors for developing cardiovascular disease. Therefore, in the present study, we investigated carbohydrate metabolism and

Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome.

Science.gov (United States)

Bernard, Valérie; Donadille, Bruno; Zenaty, Delphine; Courtillot, Carine; Salenave, Sylvie; Brac de la Perrière, Aude; Albarel, Frédérique; Fèvre, Anne; Kerlan, Véronique; Brue, Thierry; Delemer, Brigitte; Borson-Chazot, Françoise; Carel, Jean-Claude; Chanson, Philippe; Léger, Juliane; Touraine, Philippe; Christin-Maitre, Sophie

2016-04-01

What are the prevalence and the outcomes of spontaneous pregnancies (SP) in a large cohort of French women with Turner syndrome (TS)? Amongst 480 women with TS, 27 women (5.6%) had a total of 52 SP, with 30 full-term deliveries for 18 women. Primary ovarian insufficiency is a classic feature of TS. So far, few studies have evaluated the rate of SP in these patients. The French Ministry of Health set up a National Reference Centre for Rare Growth Disorders (CRMERC), including TS. We studied a cohort of adult TS patients from seven endocrine units (Saint-Antoine, Pitié-Salpêtrière, Bicêtre, Lyon, Marseille, Brest, Reims Hospitals) belonging to this centre, between January 1999 and January 2014. A total of 480 adult patients with TS were included. The patients' clinical characteristics, karyotypes and reproductive histories had been collected, after informed consent, in a web database called CEMARA. Our reference population was issued from a database belonging to the French Health Ministry, collecting pregnancy outcomes in the French general population. In order to find predictive characteristics of SP, TS with spontaneous pregnancies were compared with non-pregnant TS patients from our cohort. There were 27 patients (5.6%) who had a total of 52 SP. The two predictive factors which correlated with occurrence of a SP were spontaneous menarche and mosaic karyotype. The median delay to conception was 6 months (range 0-84). Miscarriage occurred in 16 pregnancies, 30.8% versus 15% in the general French population (P Paris France All authors claim no competing interests. NA. © The Author 2016. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy.

Science.gov (United States)

Hishimura-Yonemaru, Nozomi; Okuhara, Koji; Takahashi, Nobuhiro; Tonoki, Hidefumi; Iizuka, Susumu; Tajima, Toshihiro

2017-01-01

Patients with Turner syndrome (TS) frequently show short stature and skeletal deformities, such as kyphosis and scoliosis. However, to the best of our knowledge, limb length discrepancy (LLD) has not yet been reported in patients with TS. The case of a 12-yr-old girl with 45,X/47,XXX mosaic TS showing LLD is herein presented. She was on GH therapy for short stature and was noted to have scoliosis in the standing position at a regular examination; however, the scoliosis became less evident in the supine position, which is indicative of LLD. The length of the left leg was 5.0 cm shorter than that of the right leg when measured. She was referred to orthopedics and underwent right distal femoral and right proximal tibial staple epiphysiodesis to shorten the abnormally long limb at 10 yr 6 mo of age. One year after the operation, the LLD decreased from 5.0 to 1.5 cm. During this period, GH was continued. LLD is a rare complication in TS, but when patients with TS show scoliosis in the standing position, re-evaluation for scoliosis in the supine position should be performed and the lengths of both legs should be measured.

Mixed gonadal dysgenesis with Turner`s phenotype and mosaic karyotype

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Tarim, O.; Lieber, E. [Maimonides Medical Center, Brooklyn, NY (United States)]|[Interfaith Medical Center, Brooklyn, NY (United States)

1994-09-01

A 14 8/12-year-old white female patient was evaluated for short stature and amenorrhea. The past and family history were unremarkable. The physical examination revealed a short girl (131.4 cm; height age: 9) with a weight of 39.5kg (weight age: 11-6/12). The blood pressure was in the normal range in all four extremities and the peripheral pulses were positive. She had stigmata of Turner`s syndrome including short neck and slight webbing, cubitus valgus, and shield chest. There was no heart murmur. The only pubertal sign was pubic hair of Tanner stage II. The chromosome study showed a mosaic pattern. A total of 67 cultured lymphocytes from peripheral blood were analyzed which revealed 13 cells with 45,XO; 14 with 46,XY,r(Y); 39 with 46,XY. The patient had a normal vagina and hypoplastic uterus by sonogram. The diagnosis of mixed gonadal dysgenesis was confirmed by exploratory laparotomy and bilateral gonadectomy. The histologic examination of the gonads showed a testicle on the left and a streak ovary on right. The karyotype of the testicular tissue revealed 45,XO in 32 out of 40 and 46,XY in the remaining 8 cells. Pre-operative hormonal evaluation showed elevated gonadotropin levels of FSH 73.5 and LH 12.5 mIU/ml, low estradiol level of 5 pg/ml, normal testosterone level of 18 and DHEA-S of 181 mcg/dl, and normal thyroid function test with T4 of 6 mcg/dl and TSH of 4.2 mIU/ml. Her bone age was 12 years. The patient was also found to have subnormal growth hormone (GH) secretion by overnight GH study (1.55 ng/ml), clonidine stimulation test (7.3ng/ml), and insulin stimulation test (9.2 ng/ml). She responded well to human synthetic GH treatment with a growth velocity of 11.5 cm in two years. Replacement of sex hormones will be initiated after the completion of growth.

Grey-Turner's sign in sclerosing peritonitis

NARCIS (Netherlands)

Stouthard, J. M.; Krediet, R. T.; Arisz, L.

1989-01-01

A 41-year-old CAPD patient developed Grey-Turner's sign during the course of bacterial peritonitis due to Pseudomonas aeruginosa. At the same time a diagnosis of sclerosing peritonitis was made by CT-scanning of the abdomen. We think that Grey-Turner's flank staining could either have been caused by

Safety and efficacy of oxandrolone in growth hormone-treated girls with Turner syndrome: evidence from recent studies and recommendations for use

NARCIS (Netherlands)

Sas, T.C.J.; Gault, E.J.; Bardsley, M.Z.; Menke, L.A.; Freriks, K.; Perry, R.J.; Otten, B.J.; Keizer-Schrama, S.M.; Timmers, H.J.; Wit, J.M.; Ross, J.L.; Donaldson, M.D.

2014-01-01

There has been no consensus regarding the efficacy and safety of oxandrolone (Ox) in addition to growth hormone (GH) in girls with Turner syndrome (TS), the optimal age of starting this treatment, or the optimal dose. This collaborative venture between Dutch, UK and US centers is intended to give a

Turner syndrome--issues to consider for transition to adulthood.

Science.gov (United States)

Lucaccioni, Laura; Wong, Sze Choong; Smyth, Arlene; Lyall, Helen; Dominiczak, Anna; Ahmed, S Faisal; Mason, Avril

2015-03-01

Turner syndrome (TS) is associated with a spectrum of health problems across the age span, which requires particular attention during the transition period in these adolescents. The majority of girls with TS require oestrogen replacement from puberty onwards, which is important for adequate feminization, uterine development and maintenance of bone health. There is a lifetime increased risk from autoimmune conditions like hypothyroidism, coeliac disease, hearing loss and aortic dilatation with the potential to lead to aortic dissection. A systematic and holistic approach to provision of health care in TS is needed. Several unanswered questions remain, including the choice of hormone replacement therapy in the young person with TS and in adulthood; the optimal mode of cardiovascular assessment; the best management and assessment prior to and during pregnancy. The optimal model of care and transition to adult services in TS requires attention. Further research is needed in relation to cardiovascular risk assessment, pregnancy management and hormone replacement therapy in TS. © The Author 2014. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

MR imaging of peripheral nervous system involvement: Parsonage-Turner syndrome.

Science.gov (United States)

Zara, Gabriella; Gasparotti, Roberto; Manara, Renzo

2012-04-15

A 55-year-old woman complained of right scapular pain, like burning, radiating down his right arm and numbness in the first three fingers of the hand. Neurologic examination showed a slight deficit of the right brachial triceps muscle. Neurophysiological assessment showed a mild involvement of the seventh right spinal root (C7). Conventional MR imaging of the cervical spine showed mild disc protrusion at level C5-C6 without spinal root compression. High resolution MR neurography with multiplanar reconstruction along the course of the right brachial plexus showed a mild increase in signal intensity and thickening of the C7 root, middle trunk and posterior cord, consistent with Parsonage-Turner Syndrome. STIR images showed increased signal intensity in the right infraspinatus muscle innervated by the suprascapular nerve. In our case, sensitivity and specificity of the new MR sequences are higher than the clinical and neurophysiological evaluations. Copyright © 2011 Elsevier B.V. All rights reserved.

Long-term effects of oxandrolone treatment in childhood on neurocognition, quality of life and social-emotional functioning in young adults with Turner syndrome

NARCIS (Netherlands)

Freriks, K.; Verhaak, C.M.; Sas, T.C.; Menke, L.A.; Wit, J.M.; Otten, B.J.; Keizer-Schrama, S.M.; Smeets, D.F.C.M.; Netea-Maier, R.T.; Hermus, A.R.M.M.; Kessels, R.P.C.; Timmers, H.J.L.M.

2015-01-01

Turner syndrome (TS) is the result of (partial) absence of one X-chromosome. Besides short stature, gonadal dysgenesis and other physical aspects, TS women have typical psychological features. Since psychological effects of androgen exposure in childhood probably are long-lasting, we explored

Barriers in communication and available resources to facilitate conversation about infertility with girls diagnosed with Turner syndrome.

Science.gov (United States)

King, Jessica E; Plamondon, Jenna; Counts, Debra; Laney, Dawn; Dixon, Shannan DeLany

2016-02-01

Delayed discussion about infertility with individuals affected by Turner syndrome (TS) has been found to result in psychological and social harm. The aim of this study was to identify barriers experienced when discussing infertility and determine resource types that may facilitate this conversation. An electronic survey, given to caregivers of girls with TS diagnosed at barriers in having the conversation. Although most individuals did not use resources to facilitate the conversation, they did express interest in additional resources.

Delayed presentation of turner syndrome: Challenge to optimal management

Directory of Open Access Journals (Sweden)

Uma Kaimal Saikia

2017-01-01

Full Text Available Background: Turner syndrome (TS is a chromosomal disorder associated with dysmorphic features and comorbidities, with recent trends focusing on early diagnosis for adequate management. Aim: The aim is to study the age and mode of presentation of TS, associated comorbidities and look for any correlation with the genotype. Material and Methods: This was a retrospective analysis of girls with TS attending the endocrinology clinic of a tertiary care center. Their age, mode of presentation, and clinical features were noted. All participants underwent ear examination, echocardiography, and ultrasonography of the abdomen. Laboratory investigations included serum T4, thyroid-stimulating hormone, thyroid peroxidase antibodies, follicle-stimulating hormone, fasting, and 2-h plasma glucose after 75 g glucose load and a karyotype. Simple descriptive statistical methods were used. Results: Seventeen cases of TS were seen with a median age of presentation of 18 years (range 14–42 years. Primary amenorrhea was the most common reason for seeking medical attention (76.4% followed by short stature and diabetes mellitus (11.8% each. The mean height at presentation was 137.5 ± 5.4 cm. Monosomy of X chromosome (45,X was the most common karyotype obtained in 58.8% of the patients, followed by 45,X/46, XX in 17.6%, 45,X/46X,i(X(q10 in 11.8%, and 45,X/47,XXX and 46X,delXp11.2 in 5.9% patients each. Bicuspid aortic valve was seen in two patients having a 45,X/46,XX karyotype. Conclusion: Primary amenorrhea is the most common presenting feature in girls with TS leading to a delayed age of presentation. Short stature and dysmorphic features are often overlooked in infancy and childhood due to socioeconomic factors. This late age of presentation is a cause of concern as early detection and management is important for height outcomes, bone health, and psychosocial support. Assessment of comorbidities becomes important in this setting.

Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism

OpenAIRE

Dragović Tamara; Đuran Zorana; Jelić Svetlana; Marinković Dejan; Kiković Saša; Kuzmić-Janković Snežana; Hajduković Zoran

2016-01-01

Introduction. Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH) secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceler...

Influence of X chromosome and hormones on human brain development: a magnetic resonance imaging and proton magnetic resonance spectroscopy study of Turner syndrome

NARCIS (Netherlands)

Cutter, William J.; Daly, Eileen M.; Robertson, Dene M. W.; Chitnis, Xavier A.; van Amelsvoort, Therese A. M. J.; Simmons, Andrew; Ng, Virginia W. K.; Williams, Benjamin S.; Shaw, Phillip; Conway, Gerard S.; Skuse, David H.; Collier, David A.; Craig, Michael; Murphy, Declan G. M.

2006-01-01

Women with Turner syndrome (TS; 45,X) lack a normal second X chromosome, and many are prescribed exogenous sex and growth hormones (GH). Hence, they allow us an opportunity to investigate genetic and endocrine influences on brain development. We examined brain anatomy and metabolism in 27 adult

Normalization of height in girls with Turner syndrome after long-term growth hormone treatment : Results of a randomized dose-response trial

NARCIS (Netherlands)

Sas, TCJ; Keizer-Schrama, SMPFD; Stijnen, T; Jansen, M; Otten, BJ; Hoorweg-Nijman, JJG; Vulsma, T; Massa, GG; Rouwe, CW; Reeser, HM; Gerver, WJ; Gosen, JJ; Rongen-Westerlaken, C; Drop, SLS

1999-01-01

Short stature and ovarian failure are the main features in Turner syndrome (TS). To optimize GH and estrogen treatment, we studied 68 previously untreated girls with TS, age 2-11 yr, who were randomly assigned to one of three GH dosage groups: group A, 4 IU/m(2).day (approximate to 0.045 mg/kg.day);

Detection of Turner syndrome using X-chromosome inactivation specific differentially methylated CpG sites: A pilot study.

Science.gov (United States)

Zhang, Qiang; Guo, Xiaohong; Tian, Tian; Wang, Teng; Li, Qiaoli; Wang, Lei; Liu, Yun; Xing, Qinghe; He, Lin; Zhao, Xinzhi

2017-05-01

Early diagnosis of Turner syndrome (TS) may improve preventive measures and treatment. X-chromosome inactivation specific differentially methylated CpG sites (XIDMSs) that are high methylated in inactive X chromosomes (Xi) and unmethylated in active X chromosomes (Xa) may be potential makers for TS detection. The candidate XIDMSs were screened from 9 male and 12 female DNA samples with normal karyotypes using the Illumina 450k array and validated by bisulfite sequencing PCR and pyrosequencing assay. X chromosome dosage was calculated according to the methylation level of multiple XIDMSs. Overall, 108 candidate XIDMSs were screened by the 450k array. Validations indicated that XIDMSs gathered and formed the X-chromosome inactivation specific differentially methylated regions (XIDMRs). Using 3 XIDMRs at SAT1, UXT and UTP14A loci, 36 TS, 22 normal female and 6 male samples were analyzed. Methylation levels of the 20 XIDMSs in the XIDMRs could distinguish between TS and normal female DNA samples, the X chromosome dosage was consistent with karyotyping data. Analyzing samples of 2 triple X syndrome and 3 Klinefelter syndrome patients suggested that this method could be used to detect X chromosome aneuploids other than TS. XIDMSs are widely spread along the X chromosome and might be effective markers for detection of TS and other X chromosome aneuploids. Copyright © 2017 Elsevier B.V. All rights reserved.

Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes.

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Roelofs, Renée L; Wingbermühle, Ellen; Freriks, Kim; Verhaak, Chris M; Kessels, Roy P C; Egger, Jos I M

2015-04-01

Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The present study examines putative differences in affective information processing and social assertiveness between adult women with NS and TS. Twenty-six women with NS, 40 women with TS, and 40 female controls were matched on age and intelligence, and subsequently compared on (1) alexithymia, measured by the Bermond-Vorst Alexithymia Questionnaire, (2) emotion perception, evaluated by the Emotion Recognition Task, and (3) social assertiveness and social discomfort, assessed by the Scale for Interpersonal Behavior. Women with TS showed higher levels of alexithymia than women with NS and controls (P-values assertiveness and the level of social discomfort. Women with NS and TS demonstrated different patterns of impairment in affective information processing, in terms of alexithymia and emotion perception. The present findings suggest neuropsychological phenotyping to be helpful for the diagnosis of specific cognitive-affective deficits in genetic syndromes, for the enhancement of genetic counseling, and for the development of personalized treatment plans. © 2015 Wiley Periodicals, Inc.

Human 45,X fibroblast transcriptome reveals distinct differentially expressed genes including long noncoding RNAs potentially associated with the pathophysiology of Turner syndrome.

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Shriram N Rajpathak

Full Text Available Turner syndrome is a chromosomal abnormality characterized by the absence of whole or part of the X chromosome in females. This X aneuploidy condition is associated with a diverse set of clinical phenotypes such as gonadal dysfunction, short stature, osteoporosis and Type II diabetes mellitus, among others. These phenotypes differ in their severity and penetrance among the affected individuals. Haploinsufficiency for a few X linked genes has been associated with some of these disease phenotypes. RNA sequencing can provide valuable insights to understand molecular mechanism of disease process. In the current study, we have analysed the transcriptome profiles of human untransformed 45,X and 46,XX fibroblast cells and identified differential expression of genes in these two karyotypes. Functional analysis revealed that these differentially expressing genes are associated with bone differentiation, glucose metabolism and gonadal development pathways. We also report differential expression of lincRNAs in X monosomic cells. Our observations provide a basis for evaluation of cellular and molecular mechanism(s in the establishment of Turner syndrome phenotypes.

Health status, quality of life and medical care in adult women with Turner syndrome

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Diana-Alexandra Ertl

2018-04-01

Full Text Available Background: Previous studies have shown that only a minority of patients with Turner syndrome (TS have adequate medical care after transfer to adult care. Aim of this study: To assess the status of medical follow-up and quality of life (QoL in adult women diagnosed with TS and followed up until transfer. To compare the subjective and objective view of the medical care quality and initiate improvements based on patients’ experiences and current recommendations. Methods: 39 adult women with TS out of 64 patients contacted were seen for a clinical and laboratory check, cardiac ultrasound, standardized and structured questionnaires (SF-36v2 and Beck depression inventory. Results: 7/39 of the patients were not being followed medically at all. Only 2/39 consulted all the specialists recommended. Comorbidities were newly diagnosed in 27/39 patients; of these, 11 related to the cardiovascular system. Patients in our cohort scored as high as the mean reference population for SF-36v2 in both mental and physical compartments. Obese participants had lower scores in the physical function section, whereas higher education was related to higher physical QoL scores. Adult height slightly correlated positively with physical health. Conclusion: Medical follow-up was inadequate in our study cohort of adults with TS. Even though their medical follow-up was insufficient, these women felt adequately treated, leaving them vulnerable for premature illness. Initiatives in health autonomy and a structured transfer process as well as closer collaborations within specialities are urgently needed.

Turner syndrome: searching for better outcomes

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Adauto Versiani Ramos

2008-01-01

Full Text Available OBJECTIVES: To assess the results of growth hormone on the growth of girls with Turner Syndrome and identify relevant parameters to improve outcomes. METHODS: Growth velocity and final height were studied in a historical cohort of 41 girls, regularly followed up for hormone distribution at three referral centers. The influence of oxandrolone and of estrogens on the final height was analyzed. The girls (initial chronological age=8.9±3.4years; initial bone age=7.0±3.1years used 0.19 mg/kg/week of growth hormone for 4.0 ± 2.0 years. RESULTS: In the first year, growth velocity increased by 71.5% in 41 girls and 103.4% in those who reached final height (11 girls. The whole group had a gain in the height SDS of 0.8 ± 0.7 (p<0.01 and for those who reached a final height of 1.0 ± 0.8 (p<0.01. Final height (143.6 ±6.3 cm was 3.9 ± 5.3 cm higher than the predicted height, and the height gain occurred before estrogen therapy. Oxandrolone had no significant influence on height gain. The significant variables contributing to the final height were the duration of growth hormone used and its use prior to starting estrogens, the initial height SDS, and the growth velocity during the first year of treatment. CONCLUSIONS: We concluded that the use of growth hormone significantly increased the final height, which remained lower than the target. Results point to a need for starting growth hormone use as early as possible and to maximize treatment before estrogen replacement. It has been observed that even moderate doses of growth hormone may significantly increase early growth velocity.

Increased detection of co-morbidities with evaluation at a dedicated adult Turner syndrome clinic.

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Vincent, A J; Nguyen, H H; Ranasinha, S; Vollenhoven, B

2017-10-01

Turner syndrome (TS), resulting from complete/partial X chromosomal monosomy, is associated with multiple co-morbidities and increased mortality. Although multidisciplinary management is recommended, TS women's health care is sub-optimal. This study evaluates a multidisciplinary adult TS service. Retrospective cohort study of 82 patients attending the quarterly TS clinic from December 2003 to December 2014. Evaluation included (1) demographics, (2) TS standardized co-morbidity screening, and (3) estrogen therapy use. Data analysis involved frequency statistics, T tests and polychoric correlation analysis. Median age at TS diagnosis was 14 years (range 0-65 years), with 12% of women aged >18 years. Median age at initial consultation was 31 years (range 16-65 years). Only 14% of patients were transition program referrals. XO karyotype occurred in 30%. Primary amenorrhea predominated; however, 37% of TS women were not taking estrogen therapy. The proportion of patients not previously screened (44-76%) and those with positive screening diagnoses (5-53%) varied according to co-morbidity. The mean (± standard deviation) number of co-morbidities identified increased following TS clinic screening (7.0 ± 2.6 post-screening vs. 4.4 ± 2.3 pre-screening; p < 0.0001). Polychoric correlation analysis identified particular co-morbidity groupings (including metabolism-related) and increased co-morbidities with primary amenorrhea. A multidisciplinary adult TS clinic improves health surveillance with increased identification of co-morbidities and initiation of estrogen therapy.

Growth hormone treatment modalities in girls with Turner syndrome

NARCIS (Netherlands)

A. van Teunenbroek (Arne)

1996-01-01

textabstractThe November 1938 issue of Endocrinology published a paper by the American physician Henry Turner which described seven females exhibiting certain physical features including sh0l1 stature, sexual infantilism, webbing of the neck, low posterior hairline, and increased carrying angle of

Neoplasia in Turner syndrome. The importance of clinical and screening practices during follow-up.

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Larizza, Daniela; Albanesi, Michela; De Silvestri, Annalisa; Accordino, Giulia; Brazzelli, Valeria; Maffè, Gabriella Carnevale; Calcaterra, Valeria

2016-05-01

Turmer syndrome (TS) patients show increased morbidity due to metabolic, autoimmune and cardiovascular disorders. A risk of neoplasia is also reported. Here, we review the prevalence of neoplasia in a cohort of Turner patients. We retrospectively evaluated 87 TS women. Follow-up included periodic ultrasound of the neck, abdominal and pelvic organs, dermatologic evaluation and fecal occult blood test. Karyotype was 45,X in 46 patients. During follow-up, 63 girls were treated with growth hormone, 65 with estro-progestin replacement therapy and 20 with L-thyroxine. Autoimmune diseases were present in 29 TS. A total of 17 neoplasms in 14 out of 87 patients were found. Six skin neoplasia, 3 central nervous system tumors, 3 gonadal neoplasia, 2 breast tumors, 1 hepatocarcinoma, 1 carcinoma of the pancreas and 1 follicular thyroid cancer were detected. Age at tumor diagnosis was higher in 45,X pts than in those with other karyotypes (p = 0.003). Adenomioma gallbladdder (AG) was detected in 15.3% of the patients, with a lower age in girls at diagnosis with an associated neoplasia in comparison with TS without tumors (p = 0.017). No correlation between genetic make up, treatment, associated autoimmune diseases and neoplastia was found. In our TS population an increased neoplasia prevalence was reported. A high prevalence of AG was also noted and it might be indicative of a predisposition to neoplasia. Further studies are needed to define the overall risk for neoplasia, and to determine the role of the loss of the X-chromosome and hormonal therapies. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

The effects of GH and hormone replacement therapy on serum concentrations of mannan-binding lectin, surfactant protein D and vitamin D binding protein in Turner syndrome

DEFF Research Database (Denmark)

Gravholt, Claus Højbjerg; Leth-Larsen, Rikke; Lauridsen, Anna Lis

2004-01-01

function. In the present study we examined whether GH or hormone replacement therapy (HRT) in Turner syndrome (TS) influence the serum concentrations of MBL and two other proteins partaking in the innate immune defence, surfactant protein D (SP-D) and vitamin D binding protein (DBP). DESIGN: Study 1...

Delay in estrogen commencement is associated with lower bone mineral density in Turner syndrome.

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Nguyen, H H; Wong, P; Strauss, B J; Jones, G; Ebeling, P R; Milat, F; Vincent, A

2017-10-01

Turner syndrome (TS) is associated with hypogonadism, osteoporosis and fractures. We investigated the prevalence and risk factors for low bone density and fractures in a TS cohort. We included 76 TS patients (median age 28.5 years) attending a tertiary hospital between 1998 and 2015 who underwent dual-energy X-ray absorptiometry. Spine and femoral neck (FN) areal bone mineral density (aBMD) were compared with those of a control group. To adjust for smaller bone size, bone mineral apparent density (BMAD) was calculated. Primary amenorrhea was common (83%) in the TS cohort; the median age of pubertal induction was 15 years (range 11-30 years), and non-continuous estrogen therapy (ET) recorded in 40%. Almost one-third of TS patients reported fractures. TS patients had lower median spinal aBMD (1.026 g/cm 2 vs. 1.221 g/cm 2 ) and BMAD (0.156 g/cm 3 vs. 0.161 g/cm 3 ) than controls, and lower median FN aBMD (0.850 g/cm 2 vs. 1.026 g/cm 2 ) (all p < 0.01). More women with TS had spinal Z-score < -2.0 compared to controls (26.0% vs. 3.6%, p = 0.001). Spine and FN aBMD, BMAD and Z-scores were inversely associated with age commencing ET or years of estrogen deficiency. Delay in ET commencement was an independent risk factor for the lower bone density observed in women with TS. Early pubertal induction and ET compliance are important targets to optimize aBMD.

45, x/46, x, r (x karyotype in patients with clinical diagnosis of turner’s syndrome Cariotipo 45, X/46, X, r(X en pacientes con diagnóstico clínico de síndrome de Turner

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José Luis Ramírez Castro

2000-03-01

Full Text Available One out of 400 to 500 living newborns show sex chromosome abnormalities. Usually, the clinic characteristics due to alteration of those chromosomes are less severe than those produced by autosomic imbalance. This tolerance of the developing fetus to the excess or deficit in the X chromosome material, may be due, at least in part, to the presence of compensatory mechanisms related with the inactivation or not of the genetic material. Turner’s syndrome is characterized by short stature, primary amenorrea, streak gonads and poor development of secondary sexual characteristics. At birth lymphedema of the dorsal surface of the hands and feet is common, but usually it disappears during lactation. Mental retardation is not a finding of this syndrome, however space-form perceptional deficits are described. All these manifestations of the syndrome have a close relation with the cytogenetic findings. The purpose of this paper is to describe the clinical manifestations and an uncommon X ring chromosome mosaicism in patients with Turner syndrome-like characteristics tended in the Medical Genetics Unit of the Medical School – Antioquia University. Clinical and cytogenetics aspects in these patients are discussed. Uno de cada 400 a 500 recién nacidos vivos presenta anormalidades de los cromosomas sexuales. En términos generales, las manifestaciones clínicas por dicha alteración son más leves que las producidas por imbalance autosómico. Posiblemente esta tolerancia del feto en desarrollo al exceso o deficiencia del material presente en el cromosoma X, se debe, por lo menos en parte, a la presencia de mecanismos compensadores mediante los cuales dicho material puede ser o no inactivado (1. Las mujeres con síndrome de Turner presentan baja estatura, amenorrea primaria, tórax amplio, poco desarrollo mamario y además ovarios rudimentarios. Al nacer se destaca el edema de manos y pies, el cual desaparece durante la lactancia. No existe un retardo

Investigation of inflicted injury in a young girl reveals mild haemophilia A and Turner's syndrome.

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Williams, V K; Suppiah, R; Coppin, B; Nicholls, C M; Simsek, A; McGregor, L K

2012-02-01

A 2-year-old girl presented to casualty with a right knee effusion after apparently minor trauma. Inflicted injury was suspected and full forensic coagulation studies were performed which revealed a mild deficiency of factor VIII. Screening of the exons and intron/exon boundaries of F8 gene indicated that the child appeared to be homozygous for the missense mutation c.5123G>A (p.Arg1708His) in exon 14 of the F8 gene. This mutation has been reported to be associated with mild haemophilia A. The possibility of hemizygosity had been masked by the test kit employed but referral to the genetics service and subsequent array CGH resulted in a diagnosis of Turner syndrome. © 2011 Blackwell Publishing Ltd.

Oocyte cryopreservation for fertility preservation in postpubertal female children at risk for premature ovarian failure due to accelerated follicle loss in Turner syndrome or cancer treatments.

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Oktay, K; Bedoschi, G

2014-12-01

To preliminarily study the feasibility of oocyte cryopreservation in postpubertal girls aged between 13 and 15 years who were at risk for premature ovarian failure due to the accelerated follicle loss associated with Turner syndrome or cancer treatments. Retrospective cohort and review of literature. Academic fertility preservation unit. Three girls diagnosed with Turner syndrome, 1 girl diagnosed with germ-cell tumor. and 1 girl diagnosed with lymphoblastic leukemia. Assessment of ovarian reserve, ovarian stimulation, oocyte retrieval, in vitro maturation, and mature oocyte cryopreservation. Response to ovarian stimulation, number of mature oocytes cryopreserved and complications, if any. Mean anti-müllerian hormone, baseline follical stimulating hormone, estradiol, and antral follicle counts were 1.30 ± 0.39, 6.08 ± 2.63, 41.39 ± 24.68, 8.0 ± 3.2; respectively. In Turner girls the ovarian reserve assessment indicated already diminished ovarian reserve. Ovarian stimulation and oocyte cryopreservation was successfully performed in all female children referred for fertility preservation. A range of 4-11 mature oocytes (mean 8.1 ± 3.4) was cryopreserved without any complications. All girls tolerated the procedure well. Oocyte cryopreservation is a feasible technique in selected female children at risk for premature ovarian failure. Further studies would be beneficial to test the success of oocyte cryopreservation in young girls. Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Fenotipo turneriano asociado al cromosoma Y en anillo TURNER'S PHENOTYPE ASSOCIATED WITH RING Y CHROMOSOME

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Estela Morales Peralta

2005-03-01

Full Text Available El síndrome de Turner es una enfermedad que típicamente afecta a las hembras. En nuestro trabajo describimos un paciente con los signos principales de esta. Su cariotipo fue 46, X r(Y /45, X. Este mosaicismo se explica por la inestabilidad del anillo cromosómico que conduce a su pérdida luego de la mitosis. Mediante pruebas moleculares, que incluyeron la identificación de los genes SRY y AM-XY, obtuvimos los resultados habituales encontrados en varones. De estos hallazgos podemos concluir que el material genético perdido, como parte del proceso de formación del anillo cromosómico, es distal a Y p11.3. Esto demuestra que los genes anti-Turner se encuentran localizados en esta región pseudoautosómica.Turner's syndrome is a disease typically affecting females. In our paper, we describe a patient with its main signs. His karyotype was 46, Xr(Y/45,X. This mosaicism is explained by the instability of the chromosomic ring leading to its loss after mitosis. By molecular tests, including the identification of SRY and AM-XY genes, we obtained the usual results found in males. According to these findings, we can conclude that the genetical material lost as part of the process of formation of the chromosomic ring is distal to Y p 11.3. This shows that the anti-Turner genes are located in this pseudoautosomal region.

Loss of smell but not taste in adult women with Turner's syndrome and other congenital hypogonadisms.

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Ros, Cristina; Alobid, Isam; Centellas, Silvia; Balasch, Juan; Mullol, Joaquim; Castelo-Branco, Camil

2012-11-01

To assess the impact of Turner's syndrome (TS) and other congenital hypogonadisms (OCH) on the sense of smell and taste. An analytical study of three independent cohorts was designed: patients affected by TS, OCH, and a control group of healthy women taking contraception. Gynaecological Endocrinology Unit and Smell Clinic in Rhinology Unit of Hospital Clinic of Barcelona. Thirty TS patients between 20 and 50 years of age receiving hormone replacement treatment (HT) were included as the exposed cohort; fourteen age-matched women with OCH taking HT were recruited; forty-three age-matched healthy controls receiving hormone contraception treatment were selected as the control group. This group was matched with an historical cohort of forty healthy women without contraception, used to validate BAST-24 in Hospital Clinic of Barcelona. Clinical history, presence of nasal symptoms, general physical examination, nasal endoscopy, and Barcelona Smell Test-24 (BAST-24) and gustometry were carried out on all patients. TS physical dysmorphology features, intensity of nasal symptoms and signs of nasal obstruction were collected. BAST-24 test included 24 odours to assess both sensory (detection, memory and forced choice) and sensitivity (intensity, irritability, freshness and pleasantness) odour characteristics, as well as 4 tastes to evaluate taste domains (detection and forced choice). Healthy women taking hormone contraception felt odours with more intensity (p=0.002) and less irritability (psmell memory (psmell but not of taste, compared to OCH and healthy controls taking contraception. Smell sensitivity was not affected. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Growth hormone therapy in a girl with Turner syndrome and diabetes type 1 - case report.

Science.gov (United States)

Obara-Moszynska, Monika; Banaszak, Magdalena; Niedziela, Marek

2015-01-01

The studies indicate the complex etiology of abnormal glucose metabolism in the Turner syndrome (TS). In the light of these carbohydrate disorders a therapy with recombinant growth hormone (rGH) in TS may be associated with complications, as growth hormone has a diabetogenic potential. Perinatal history is unknown since the patient was adopted at the age of 4 years. At 11 years old, due to typical phenotype, TS was diagnosed. The karyotype was 45,X[43]/46,X,i(X)(q10)[7]. At the same age, basing on laboratory results, insulin dependent diabetes was diagnosed and the conventional insulin therapy was initiated. During the hospitalization, at the age of 12 years, the patient was 123.5cm (-4.4SD). At the same age rGH tre-atment was initiated, with the dose 0.045 mg/kg/d. After 3 months of therapy the height velocity rose to 8.2 cm/ year. At the age of 13 years, substitution with 17β-estradiol was started. After 3 years and 4 months the growth hormone treatment was stopped because of poor height velocity. The final height of the patient was 140 cm (-4,OSD). Two years after the end of rGH treatment the height was 141.2 cm. After termination of rGH treatment the need for daily insulin dose decreased from 50-60U/d to 38-44U/d. The decision of rGH therapy in TS with diabetes is certainly difficult. While starting the growth hormone treatment the clinician must keep in mind the risk of metabolic complications, but also the awareness that gives the patient a chance to improve the final height. In terms of the proper psycho-emotional development the reduction of growth deficit is very important. © Polish Society for Pediatric Endocrinology and Diabetology.

Carbohydrate metabolism during long-term growth hormone (GH) treatment and after discontinuation of GH treatment in girls with Turner syndrome participating in a randomized dose-response study. Dutch Advisory Group on Growth Hormone

NARCIS (Netherlands)

T.C.J. Sas (Theo); S.M.P.F. de Muinck Keizer-Schrama (Sabine); Th. Stijnen (Theo); H-J. Aanstoot (Henk-Jan); S.L.S. Drop (Stenvert)

2000-01-01

textabstractTo assess possible side-effects of GH treatment with supraphysiological doses on carbohydrate (CH) metabolism in girls with Turner syndrome (TS) during long term GH treatment and after discontinuation of GH treatment, the results of oral glucose tolerance

Clinical care of adult Turner syndrome--new aspects.

Science.gov (United States)

Trolle, Christian; Mortensen, Kristian Havmand; Hjerrild, Britta E; Cleemann, Line; Gravholt, Claus H

2012-05-01

Turner syndrome (TS) is characterized by numerous medical challenges during adolescence and adulthood. Puberty has to be induced in most cases, and female sex hormone replacement therapy (HRT) should continue during adult years. These issues are normally dealt with by the paediatrician, but once a TS female enters adulthood it is less clear who should be the primary care giver. Morbidity and mortality is increased, especially due to the risk of dissection of the aorta and other cardiovascular diseases, as well as the risk of type 2 diabetes, hypertension, osteoporosis, thyroid disease and other diseases. The proper dose of HRT with female sex steroids has not been established, and, likewise, benefits and/or drawbacks from HRT have not been thoroughly evaluated. The transition period from paediatric to adult care seems to be especially vulnerable and the proper framework for transition has not yet been established. Likewise, no framework is in place for continuous follow-up during adult years in many countries. Today, most treatment recommendations are based on expert opinion and are unfortunately not evidence based, although more areas, such as growth hormone and oxandrolone treatment for increasing height, are becoming well founded. Osteoporosis, diabetes, both type 1 and 2, hypothyroidism, obesity and a host of other endocrine diseases and conditions are seen more frequently in TS. Prevention, intervention and proper treatment is only just being recognized. Hypertension is frequent and can be a forerunner of cardiovascular disease. The description of adult life with TS has been broadened and medical, social and psychological aspects are being added at a compelling pace. Proper care during adulthood should be studied and a framework for care should be in place, since most morbidity potentially is amenable to intervention. In summary, TS is a condition associated with a number of diseases and conditions which need the attention of a multi-disciplinary team during

Yearly stepwise increments of the growth hormone dose results in a better growth response after four years in girls with Turner syndrome. Dutch Working Group on Growth Hormone

NARCIS (Netherlands)

van Teunenbroek, A.; de Muinck Keizer-Schrama, S. M.; Stijnen, T.; Jansen, M.; Otten, B. J.; Delemarre-van de Waal, H. A.; Vulsma, T.; Wit, J. M.; Rouwé, C. W.; Reeser, H. M.; Gosen, J. J.; Rongen-Westerlaken, C.; Drop, S. L.

1996-01-01

To optimize the growth promoting effect of growth hormone (GH), 65 previously untreated girls with Turner syndrome (TS), chronological age (CA) 2-11 yr, were randomized into 3 dosage regimen groups: A, B, and C, with a daily recombinant-human GH dose during 4 study years of 4-4-4-4, 4-6-6-6, and

Characteristic Morphologies of the Bicuspid Aortic Valve in Patients with Genetic Syndromes.

Science.gov (United States)

Niaz, Talha; Poterucha, Joseph T; Olson, Timothy M; Johnson, Jonathan N; Craviari, Cecilia; Nienaber, Thomas; Palfreeman, Jared; Cetta, Frank; Hagler, Donald J

2018-02-01

In patients with bicuspid aortic valve (BAV), complications including progressive aortic stenosis and aortic dilatation develop over time. The morphology of cusp fusion is one of the determinants of the type and severity of these complications. We present the association of morphology of cusp fusion in BAV patients with distinctive genetic syndromes. The Mayo Clinic echocardiography database was retrospectively reviewed to identify patients (age ≤ 22 years) diagnosed with BAV from 1990 to 2016. Cusp fusion morphology was determined from the echocardiographic studies, while coexisting cardiac defects and genetic syndromes were determined from chart review. A total of 1,037 patients with BAV were identified: 550 (53%) had an isolated BAV, 299 (29%) had BAV and a coexisting congenital heart defect, and 188 (18%) had BAV and a coexisting genetic syndrome or disorder. There were no differences in distribution of morphology across the three groups. However, right-noncoronary (RN) cusp fusion was the predominant morphology associated with Down syndrome (P = .002) and right-left (RL) cusp fusion was the predominant morphology associated with Turner syndrome (P = .02), DiGeorge syndrome (P = .02), and Shone syndrome (P = .0007), when compared with valve morphology in patients with isolated BAV. Isolated BAV patients with RN cusp fusion had larger ascending aorta diameter (P = .001) and higher number of patients with ≥ moderate aortic regurgitation (P = .02), while those with RL cusp fusion had larger sinus of Valsalva diameter (P = .0006). Morphological subtypes of BAV are associated with different genetic syndromes, suggesting distinct perturbations of developmental pathways in aortic valve malformation. Copyright © 2017 American Society of Echocardiography. Published by Elsevier Inc. All rights reserved.

Application of Neural Networks for classification of Patau, Edwards, Down, Turner and Klinefelter Syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics.

Science.gov (United States)

Catic, Aida; Gurbeta, Lejla; Kurtovic-Kozaric, Amina; Mehmedbasic, Senad; Badnjevic, Almir

2018-02-13

The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for this is that ANNs are good approximates of complex functions, so classification can be performed without the need for explicitly defined input-output model. This engineering tool can be applied for optimization of existing methods for disease/syndrome classification. Cytogenetic and molecular analyses are the most frequent tests used in prenatal diagnostic for the early detection of Turner, Klinefelter, Patau, Edwards and Down syndrome. These procedures can be lengthy, repetitive; and often employ invasive techniques so a robust automated method for classifying and reporting prenatal diagnostics would greatly help the clinicians with their routine work. The database consisted of data collected from 2500 pregnant woman that came to the Institute of Gynecology, Infertility and Perinatology "Mehmedbasic" for routine antenatal care between January 2000 and December 2016. During first trimester all women were subject to screening test where values of maternal serum pregnancy-associated plasma protein A (PAPP-A) and free beta human chorionic gonadotropin (β-hCG) were measured. Also, fetal nuchal translucency thickness and the presence or absence of the nasal bone was observed using ultrasound. The architectures of linear feedforward and feedback neural networks were investigated for various training data distributions and number of neurons in hidden layer. Feedback neural network architecture out performed feedforward neural network architecture in predictive ability for all five aneuploidy prenatal syndrome classes. Feedforward neural network with 15 neurons in hidden layer achieved classification sensitivity of 92.00%. Classification sensitivity of feedback (Elman's) neural network was 99.00%. Average accuracy of feedforward neural network was 89.6% and for

Face and emotion recognition deficits in Turner syndrome: a possible role for X-linked genes in amygdala development.

Science.gov (United States)

Lawrence, Kate; Kuntsi, Jonna; Coleman, Michael; Campbell, Ruth; Skuse, David

2003-01-01

Face recognition is thought to rely on configural visual processing. Where face recognition impairments have been identified, qualitatively delayed or anomalous configural processing has also been found. A group of women with Turner syndrome (TS) with monosomy for a single maternal X chromosome (45, Xm) showed an impairment in face recognition skills compared with normally developing women. However, normal configural face-processing abilities were apparent. The ability to recognize facial expressions of emotion, particularly fear, was also impaired in this TS subgroup. Face recognition and fear recognition accuracy were significantly correlated in the female control group but not in women with TS. The authors therefore suggest that anomalies in amygdala function may be a neurological feature of TS of this karyotype.

Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations.

Science.gov (United States)

Noordman, Iris; Duijnhouwer, Anthonie; Kapusta, Livia; Kempers, Marlies; Roeleveld, Nel; Schokking, Michiel; Smeets, Dominique; Freriks, Kim; Timmers, Henri; van Alfen-van der Velden, Janiëlle

2018-06-01

Turner syndrome (TS) is a genetic disorder characterized by the (partial) absence or a structural aberration of the second sex chromosome and is associated with a variety of phenotypes with specific physical features and cardio-aortic malformations. The objective of this study was to gain a better insight into the differences in dysmorphic features between girls and women with TS and to explore the association between these features, karyotype and cardio-aortic malformations. This prospective study investigated 14 dysmorphic features of TS girls and women using a checklist. Three major phenotypic patterns were recognized (severe phenotype, lymphatic phenotype and skeletal phenotype). Patient data including karyotype and cardio-aortic malformations (bicuspid aortic valve (BAV) and aortic coarctation (COA)) were collected. Associations between the prevalence of dysmorphic features, karyotype and cardio-aortic malformations were analysed using chi 2 -test and odds ratios. A total of 202 patients (84 girls and 118 women) were analysed prospectively. Differences in prevalence of dysmorphic features were found between girls and women. A strong association was found between monosomy 45,X and the phenotypic patterns. Furthermore, an association was found between COA and lymphatic phenotype, but no association was found between karyotype and cardio-aortic malformations. This study uncovered a difference in dysmorphic features between girls and women. Monosomy 45,X is associated with a more severe phenotype, lymphatic phenotype and skeletal phenotype. All patients with TS should be screened for cardio-aortic malformations, because in contrast to previous reports, karyotype and cardio-aortic malformations showed no significant association. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

Greening Turner Valley

International Nuclear Information System (INIS)

Byfield, M.

2010-01-01

This article discussed remedial activities undertaken in the Turner Valley. Remedial action in the valley must satisfy the financial concerns of engineers and investors as well as the environmental concerns of residents and regulators. Natural gas production in the Turner Valley began in 1914. The production practices were harmful and wasteful. Soil and water pollution was not considered a problem until recently. The impacts of cumulative effects and other pollution hazards are now being considered as part of many oil and gas environmental management programs. Companies know it is cheaper and safer to prevent pollutants from being released, and more efficient to clean them up quickly. Oil and gas companies are also committed to remediating historical problems. Several factors have simplified remediation plans in the Turner Valley. Area real estate values are now among the highest in Alberta. While the valley residents are generally friendly to the petroleum industry, strong communication with all stakeholders in the region is needed. 1 fig.

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.

Science.gov (United States)

Gravholt, Claus H; Andersen, Niels H; Conway, Gerard S; Dekkers, Olaf M; Geffner, Mitchell E; Klein, Karen O; Lin, Angela E; Mauras, Nelly; Quigley, Charmian A; Rubin, Karen; Sandberg, David E; Sas, Theo C J; Silberbach, Michael; Söderström-Anttila, Viveca; Stochholm, Kirstine; van Alfen-van derVelden, Janielle A; Woelfle, Joachim; Backeljauw, Philippe F

2017-09-01

Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with The European Society for Pediatric Endocrinology, The Endocrine Society, European Society of Human Reproduction and Embryology, The American Heart Association, The Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society for Endocrinology, the Pediatric Endocrine Society, the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology and the Endocrine Society. Advocacy groups appointed representatives who participated in pre-meeting discussions and in the

Analysis of PTPN22, ZFAT and MYO9B polymorphisms in Turner Syndrome and risk of autoimmune disease.

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Villanueva-Ortega, E; Ahedo, B; Fonseca-Sánchez, M A; Pérez-Durán, J; Garibay-Nieto, N; Macías-Galavíz, M T; Trujillo-Cabrera, Y; García-Latorre, E; Queipo, G

2017-08-01

Turner syndrome (TS) is one of the most common sexual chromosome abnormalities and is clearly associated with an increased risk of autoimmune diseases, particularly thyroid disease and coeliac disease (CD). Single-nucleotide polymorphism analyses have been shown to provide correlative evidence that specific genes are associated with autoimmune disease. Our aim was to study the functional polymorphic variants of PTPN22 and ZFAT in relation to thyroid disease and those of MYO9B in relation to CD. A cross-sectional comparative analysis was performed on Mexican mestizo patients with TS and age-matched healthy females. Our data showed that PTPN22 C1858T (considered a risk variant) is not associated with TS (X 2  = 3.50, p = .61, and OR = 0.33 [95% CI = 0.10-1.10]). Also, ZFAT was not associated with TS (X 2  = 1.2, p = .28, and OR = 1.22 [95% CI = 0.84-1.79]). However, for the first time, rs2305767 MYO9B was revealed to have a strong association with TS (X 2  = 58.6, p = .0001, and OR = 10.44 [95% C = 5.51-19.80]), supporting a high level of predisposition to CD among TS patients. This report addresses additional data regarding the polymorphic variants associated with autoimmune disease, one of the most common complications in TS. © 2017 John Wiley & Sons Ltd.

A whole-brain gray and white matter analysis in children with 45XO karyotype Turner syndrome: voxel-based morphometry

International Nuclear Information System (INIS)

Zhao Qiuling; Zhang Zhixin; Cheng Pangui; Xie Sheng; Liu Xiwei; Pan Hui; Li Kang; Zhang Jiaying; Gong Gaolang

2013-01-01

Objective: To detect the structural changes of cerebral gray and white matter in children of monosomy Turner syndrome (TS) by using voxel-based morphometry (VBM). Methods: Nine children 45XO karyotype TS and 20 age-matched control girls were recruited in this study. Wechsler intelligence scale for children was used to obtain their intelligence quotients (IQ). High-resolution magnetic MR imaging was performed in TS children and control girls to collect the whole brain structural data. The data were analyzed by VBM based on SPM 8 to compare the volume of gray and white matter between the TS children and normal controls by using covariance analysis. Results: The IQ of TS children was 81 ± 13, and the IQ of the controls was 109 ± 16. Statistical analysis revealed significant difference of IQ between the two groups (t = -4.70, P < 0.05). Compared with normal controls, TS children showed significantly decreased volume (numbers of voxel in clusters were 631, 525, 520, t = 3.95, 3.50, 3.36, P < 0.05, FWE-corrected) in the gray matter of the right superior parietal lobule, postcentral gyrus, precuneus lobule, calcarine, cuneus cortices, as well as the left middle and inferior occipital lobe. However, the volume of the bilateral supplemental motor area and the medial superior frontal lobes, the right middle cingulum, the left superior, middle, and inferior temporal gyri were increased in the TS children compared to the controls. The left fusiform, the left parahippocampus, the left hippocampus and the left cerebellum were also enlarged in TS children (numbers of voxel in clusters were 2082, 974, 1708, 588, 579, t = 5.45, 4.59, 4.40, 4.29, 3.55, P < 0.05, FWE-corrected). White matter regions in the left postcentral gyrus and inferior parietal lobule showed significantly reduced volume (voxel number 957, t = 5.85, P < 0.05, FWE-corrected). Conclusion: Children with monosomy TS show abnormal gray and white matter volumes in some brain regions, which may be involved in the

Síndrome de Turner e polimorfismo genético: uma revisão sistemática

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Alessandra Bernadete Trovó de Marqui

2015-09-01

Full Text Available ResumoObjetivo:Apresentar os principais resultados dos estudos que investigaram polimorfismos genéticos em síndrome de Turner, bem como sua associação com alguns sinais clínicos e etiologia desse distúrbio cromossômico.Fontes de dados:Revisão bibliográfica feita no PubMed, sem limite de período, com os seguintes termos: Turner syndrome and genetic polymorphism. Foram identificados 116 artigos e, de acordo com os critérios de inclusão e exclusão, 17 foram selecionados para leitura.Síntese dos dados:Os polimorfismos investigados em pacientes com síndrome de Turner estavam relacionados com déficit de crescimento, que causou baixa estatura, densidade mineral óssea baixa, autoimunidade e anomalias cardíacas, que podem estar presentes com frequências significativas nas pacientes. Também foi verificado o papel dos polimorfismos de único nucleotídeo (SNPs na etiologia da síndrome de Turner, ou seja, na não disjunção cromossômica.Conclusões:Os polimorfismos genéticos parecem estar associados à síndrome de Turner. Entretanto, por conta dos poucos estudos publicados e dos achados contraditórios, pesquisas em diferentes populações são necessárias para esclarecer o papel dessas variantes genéticas para os sinais clínicos e a etiologia do distúrbio cromossômico.

Esophageal achalasia compressing left atrium diagnosed by echocardiography using a liquid containing carbon dioxide in a 21-year-old woman with Turner syndrome.

Science.gov (United States)

Park, Man Je; Song, Bong Gun; Lee, Hyoun Soo; Kim, Ki Hoon; Ok, Hea Sung; Kim, Byeong Ki; Park, Yong Hwan; Kang, Gu Hyun; Chun, Woo Jung; Oh, Ju Hyeon

2012-01-01

Extrinsic compression of the left atrium by the esophagus, the stomach, or both is an uncommon but important cause of hemodynamic compromise. Achalasia is a motility disorder characterized by impaired relaxation of the lower esophageal sphincter and dilatation of the distal two thirds of the esophagus. Echocardiographic imaging after oral ingestion of liquid containing carbon dioxide allowed for differentiation between a compressive vascular structure and the esophagus. We report a rare case of esophageal achalasia compressing the left atrium diagnosed by echocardiography using a liquid containing carbon dioxide in a 21-year-old woman with Turner syndrome. Copyright © 2012 Elsevier Inc. All rights reserved.

X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome.

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Fiot, Elodie; Zenaty, Delphine; Boizeau, Priscilla; Haigneré, Jeremy; Dos Santos, Sophie; Léger, Juliane

2016-03-01

Short stature is a key aspect of the phenotype of patients with Turner syndrome (TS). SHOX haploinsufficiency is responsible for about two-thirds of the height deficit. The aim was to investigate the effect of X-chromosome gene dosage on anthropometric parameters at birth, spontaneous height, and adult height (AH) after growth hormone (GH) treatment. We conducted a national observational multicenter study. Birth parameter SDS for gestational age, height, and AH before and after GH treatment respectively, and height deficit with respect to target height (SDS) were classified by karyotype subgroup in a cohort of 1501 patients with TS: 45,X (36%), isoXq (19%), 45,X/46,XX (15%), XrX (7%), presence of Y (6%), or other karyotypes (17%). Birth weight, length (P<0.0001), and head circumference (P<0.001), height and height deficit with respect to target height (SDS) before GH treatment, at a median age of 8.8 (5.3-11.8) years and after adjustment for age and correction for multiple testing (P<0.0001), and AH deficit with respect to target height at a median age of 19.3 (18.0-21.8) years and with additional adjustment for dose and duration of GH treatment (P=0.006), were significantly associated with karyotype subgroup. Growth retardation tended to be more severe in patients with XrX, isoXq, and, to a lesser extent, 45,X karyotypes than in patients with 45,X/46,XX karyotypes or a Y chromosome. These data suggest that haploinsufficiency for an unknown Xp gene increases the risk of fetal and postnatal growth deficit and short AH with respect to target height after GH therapy. © 2016 European Society of Endocrinology.

Protein metabolism in Turner syndrome and the impact of hormone replacement therapy.

Science.gov (United States)

Gravholt, Claus Højbjerg; Riis, Anne Lene; Møller, Niels; Christiansen, Jens Sandahl

2007-09-01

Studies have documented an altered body composition in Turner syndrome (TS). Body fat is increased and muscle mass is decreased. Ovarian failure necessitates substitution with female hormone replacement therapy (HRT), and HRT induces favourable changes in body composition. It is unknown how HRT affects protein metabolism. To test whether alterations in body composition before and after HRT in TS are a result of altered protein metabolism. We performed a randomized crossover study with active treatment (HRT in TS and oral contraceptives in controls) or no treatment. We studied eight women (age 29.7 +/- 5.6 (mean +/- SD) years) with TS, verified by karyotype, and eight age-matched controls (age 27.3 +/- 4.9 years). All subjects underwent a 3-h study in the postabsorptive state. Protein dynamics of the whole body and of the forearm muscles were measured by an amino acid tracer dilution technique using [(15)N]phenylalanine and [(2)H(4)]tyrosine. Substrate metabolism was examined by indirect calorimetry. Energy expenditure was comparable among TS and controls, and did not change during active treatment. Whole-body phenylalanine and tyrosine fluxes were similar in the untreated situations, and did not change during active treatment. Amino acid degradation and protein synthesis were similar in all situations. Muscle protein breakdown was similar among groups, and was not affected by treatment. Muscle protein synthesis rate and forearm blood flow did not differ among groups or due to treatment. Protein metabolism in TS is comparable to controls, and is not affected by HRT.

Noonan's Syndrome and Autoimmune Thyroiditis

Science.gov (United States)

Vesterhus, Per; Aarskog, Dagfinn

1973-01-01

Thyroid abnormalities were studies in seven boys and three girls, 4- to 17-years-old, with Noonan's syndrome, characterized by mental retardation, ocular anomalies (wide spaced eyes, drooped eye lids, or strabismus), heart lesions, characteristics of Turner's syndrome, and normal karyotypes (chromosome arrangement). (MC)

Height outcome of the recombinant human growth hormone treatment in Turner syndrome: a meta-analysis

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Ping Li

2018-04-01

Full Text Available Objective: This study sought to determine the effect of the recombinant human growth hormone (rhGH treatment of Turner syndrome (TS on height outcome. Methods: We searched in MEDLINE, EMBASE and Cochrane Central Register of Controlled Trials and Cochrane Database of Systematic Reviews. A literature search identified 640 records. After screening and full-text assessment, 11 records were included in the systematic review. Methodological quality was assessed using the Cochrane Risk of Bias tool. RevMan 5.3 software was used for meta-analysis. We also assessed the quality of evidence with the GRADE system. Results: Compared with controls, rhGH therapy led to increased final height (MD = 7.22 cm, 95% CI 5.27–9.18, P < 0.001, I2 = 4%; P = 0.18, height standard deviation (HtSDS (SMD = 1.22, 95% CI 0.88–1.56, P < 0.001, I2 = 49%; P = 0.14 and height velocity (HV (MD 2.68 cm/year; 95% CI 2.34, 3.02; P < 0.001, I2 = 0%; P = 0.72. There was a small increase in bone age (SMD 0.32 years; 95% CI 0.1, 0.54; P = 0.004, I2 = 73%; P = 0.02 after rhGH therapy for 12 months. What is more, the rhGH/oxandrolone combination therapy suggested greater final height (MD 2.46 cm; 95% CI 0.73, 4.18; P = 0.005, I2 = 32%; P = 0.22, increase and faster HV (SMD 1.67 cm/year; 95% CI 1.03, 2.31; P < 0.03, I2 = 80%; P < 0.001, with no significant increase in HtSDS and bone maturation compared with rhGH therapy alone. Conclusions: For TS patients, rhGH alone or with concomitant use of oxandrolone treatment had advantages on final height.

Plasma exchange in Goodpasture syndrome associated with ...

African Journals Online (AJOL)

Background: Good pasture syndrome (GPS) has been paid much attention recently for the dangerous illnessand high mortality. Objective: To investigate the efficiency of plasma exchange (PE) to treat Goodpasture syndrome (GPS) in children associated with Turner's syndrome. Method: We report a case of a 15 year old ...

Secular Trends on Birth Parameters, Growth, and Pubertal Timing in Girls with Turner Syndrome

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Joachim Woelfle

2018-02-01

Full Text Available BackgroundWhether children with chromosomal disorders of growth and puberty are affected by secular trends (STs as observed in the general population remains unanswered, but this question has relevance for expectations of spontaneous development and treatment responses.ObjectivesThe aim of the study was to evaluate STs in birth parameters, growth, and pubertal development in girls with Turner syndrome (TS.Study designRetrospective analysis of KIGS data (Pfizer International Growth Database. We included all TS patients who entered KIGS between 1987 and 2012 and were born from 1975 to 2004, who were prepubertal and growth treatment naïve at first entry (total number: 7,219. Pretreatment height and ages at the start of treatment were compared across 5-year birth year groups, with subgroup analyses stratified by induced or spontaneous puberty start.ResultsWe observed significant STs across the birth year groups for birth weight [+0.18 SD score (SDS, p < 0.001], pretreatment height at mean age 8 years (+0.73 SDS, p < 0.001, height at the start of growth hormone (GH therapy (+0.38 SDS, p < 0.001 and start of puberty (+0.42 SDS, p < 0.001. Spontaneous puberty onset increased from 15 to 30% (p < 0.001. Mean age at the start of GH treatment decreased from 10.8 to 7.4 years (−3.4 years; p < 0.001, and substantial declines were seen in ages at onset of spontaneous and induced puberty (−2.0 years; p < 0.001 and menarche (−2.1 years; p < 0.001.ConclusionEnvironmental changes leading to increased height and earlier and also more common, spontaneous puberty are applicable in TS as in normal girls. In addition, greater awareness for TS may underlie trends to earlier start of GH therapy and induction of puberty at a more physiological age.

The role of short-term memory and visuo-spatial skills in numerical magnitude processing: Evidence from Turner syndrome.

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Lucie Attout

Full Text Available Most studies on magnitude representation have focused on the visual modality with no possibility of disentangling the influence of visuo-spatial skills and short-term memory (STM abilities on quantification processes. This study examines this issue in patients with Turner syndrome (TS, a genetic condition characterized by a specific cognitive profile frequently associating poor mathematical achievement, low spatial skills and reduced STM abilities. In order to identify the influence of visuo-spatial and STM processing on numerical magnitude abilities, twenty female participants with TS and twenty control female participants matched for verbal IQ and education level were administered a series of magnitude comparison tasks. The tasks differed on the nature of the magnitude to be processed (continuous, discrete and symbolic magnitude, on visuo-spatial processing requirement (no/high and on STM demands (low in simultaneous presentation vs. high in sequential presentation. Our results showed a lower acuity when participants with TS compared the numerical magnitudes of stimuli presented sequentially (low visuo-spatial processing and high STM load: Dot sequence and Sound sequence while no difference was observed in the numerical comparison of sets presented simultaneously. In addition, the group difference in sequential tasks disappeared when controlling for STM abilities. Finally, both groups demonstrated similar performance when comparing continuous or symbolic magnitude stimuli and they exhibited comparable subitizing abilities. These results highlight the importance of STM abilities in extracting numerosity through a sequential presentation and underline the importance of considering the impact of format presentation on magnitude judgments.

Turner′s syndrome presenting as metabolic bone disease

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Sadishkumar Kamalanathan

2012-01-01

Full Text Available Turner′s syndrome is a genetic disorder with a complete or partial absence of one X chromosome with characteristic phenotypic features. The prevalence of renal anomalies in turner syndrome is 30-40%. However, the renal function is usually normal. We report a case of Turner′s syndrome presenting with chronic kidney disease and renal osteodystrophy.

Genomic-based nursing care for women with Turner Syndrome: genomic-based nursing care Atención de enfermería basada en genómica para las mujeres con Síndrome de Turner Cuidado de enfermagem baseado em genômica para mulheres com Síndrome de Turner

Directory of Open Access Journals (Sweden)

Milena Flória-Santos

2006-10-01

Full Text Available Biologic and technologic advances generated from The Human Genome Project are having a dramatic impact on the expanding role of nurses in current health care practice. New genetic research needs to be transformed rapidly into clinical protocols with recommendations for delivering care to targeted populations. Nurses can contribute significantly, as part of an interdisciplinary approach, to translate genome-based knowledge into benefits for health care and society. In this context, we describe a clinical-genetic investigation protocol, as well nursing diagnosis, interventions and outcomes for clients with Turner Syndrome (TS at risk for develop gonadal tumors, due the presence of a normal or abnormal Y chromosome.Los avances biológicos y tecnológicos generados a partir del Proyecto Genoma Humano están teniendo un impacto dramático en el extenso papel de las enfermeras en la práctica actual del cuidado de la salud. Nuevas investigaciones genéticas necesitan ser transformadas rápidamente en protocolos clínicos con recomendaciones para suministrar cuidados a las poblaciones necesitadas. Las enfermeras pueden contribuir significantemente, como parte de un acercamiento interdisciplinario, traduciendo conocimientos basados en el genoma en ventajas para el cuidado de la salud y la sociedad. En este contexto, describimos un protocolo de investigación clínico-genético e también diagnósticos de enfermería, intervenciones y resultados para clientes con Síndrome de Turner (TS y riesgo de desarrollar tumores gonadales, debido a la presencia de un cromosoma Y normal o anormal.Os avanços biológicos e tecnológicos gerados a partir do Projeto Genoma Humano estão tendo um impacto dramático na expansão do papel dos enfermeiros na prática atual do cuidado em saúde. As novas pesquisas genéticas necessitam ser rapidamente transformadas em protocolos clínicos, com recomendações para ministrar cuidados a populações alvo. Enfermeiros podem

Combining multicriteria decision analysis, ethics and health technology assessment: applying the EVIDEM decisionmaking framework to growth hormone for Turner syndrome patients

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Grégoire Jean-Pierre

2010-04-01

Full Text Available Abstract Objectives To test and further develop a healthcare policy and clinical decision support framework using growth hormone (GH for Turner syndrome (TS as a complex case study. Methods The EVIDEM framework was further developed to complement the multicriteria decision analysis (MCDA Value Matrix, that includes 15 quantifiable components of decision clustered in four domains (quality of evidence, disease, intervention and economics, with a qualitative tool including six ethical and health system-related components of decision. An extensive review of the literature was performed to develop a health technology assessment report (HTA tailored to each component of decision, and content was validated by experts. A panel of representative stakeholders then estimated the MCDA value of GH for TS in Canada by assigning weights and scores to each MCDA component of decision and then considered the impact of non-quantifiable components of decision. Results Applying the framework revealed significant data gaps and the importance of aligning research questions with data needs to truly inform decision. Panelists estimated the value of GH for TS at 41% of maximum value on the MCDA scale, with good agreement at the individual level (retest value 40%; ICC: 0.687 and large variation across panelists. Main contributors to this panel specific value were "Improvement of efficacy", "Disease severity" and "Quality of evidence". Ethical considerations on utility, efficiency and fairness as well as potential misuse of GH had mixed effects on the perceived value of the treatment. Conclusions This framework is proposed as a pragmatic step beyond the current cost-effectiveness model, combining HTA, MCDA, values and ethics. It supports systematic consideration of all components of decision and available evidence for greater transparency. Further testing and validation is needed to build up MCDA approaches combined with pragmatic HTA in healthcare decisionmaking.

X-Chromosome Effects on Attention Networks: Insights from Imaging Resting-State Networks in Turner Syndrome.

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Green, Tamar; Saggar, Manish; Ishak, Alexandra; Hong, David S; Reiss, Allan L

2017-07-18

Attention deficit hyperactivity disorder (ADHD) is strongly affected by sex, but sex chromosomes' effect on brain attention networks and cognition are difficult to examine in humans. This is due to significant etiologic heterogeneity among diagnosed individuals. In contrast, individuals with Turner syndrome (TS), who have substantially increased risk for ADHD symptoms, share a common genetic risk factor related to the absence of the X-chromosome, thus serving as a more homogeneous genetic model. Resting-state functional MRI was employed to examine differences in attention networks between girls with TS (n = 40) and age- sex- and Tanner-matched controls (n = 33). We compared groups on resting-state functional connectivity measures from data-driven independent components analysis (ICA) and hypothesis-based seed analysis. Using ICA, reduced connectivity was observed in both frontoparietal and dorsal attention networks. Similarly, using seeds in the bilateral intraparietal sulcus (IPS), reduced connectivity was observed between IPS and frontal and cerebellar regions. Finally, we observed a brain-behavior correlation between IPS-cerebellar connectivity and cognitive attention measures. These findings indicate that X-monosomy contributes affects to attention networks and cognitive dysfunction that might increase risk for ADHD. Our findings not only have clinical relevance for girls with TS, but might also serve as a biological marker in future research examining the effects of the intervention that targets attention skills. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

Turner Syndrome: A Guide for Families

Science.gov (United States)

... of direction) · Problems with nonverbal problem-solving (particularly math) · Clumsiness (coordination problems and poor hand/finger skills) · ... syndrome.” These include: high blood pressure; abnormal blood levels of lipids (such as cholesterol); non- insulin-dependent ...

The analysis of the phenomenon of pilgrimage in the context of V.Turner theory

OpenAIRE

Liutikas, Darius

2004-01-01

The article presents the theory of Turners towards pilgrimage. The phenomenon of pilgrimage Turners analyzed using such elements from the previous works of V. Turner like communitas, liminality, the location of pilgrimage sites. The communitas in V. Turner theory is a relational quality of full unmediated communication, even communion between definite and determinate identities, which arises spontaneously in all kinds of groups, situations and circumstances. The achievement of communitas is t...

Respostas ao adoecimento: mecanismos de defesa utilizados por mulheres com síndrome de Turner e variantes The defenses employed by women with Turner syndrome: dealing with the disease

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Vera Lúcia Soares Chvatal

2009-01-01

Full Text Available OBJETIVO:Conhecer as defesas utilizadas por mulheres com síndrome de Turner (ST ou formas variantes para lidar com a doença. MÉTODO: Pesquisa qualitativa com desenho exploratório, não experimental. O instrumento consistiu em entrevista psicológica semidirigida, aplicada em 13 mulheres, cuja amostragem deu-se por saturação, as quais fazem acompanhamento semestral no Centro de Atendimento Integral à Saúde da Mulher. Os dados foram interpretados utilizando-se da abordagem psicodinâmica, aliada a um quadro eclético de referenciais teóricos para discussão no espírito da interdisciplinaridade. RESULTADOS: Essas mulheres apresentaram conflitos psicossociais como dificuldades de relacionamento interpessoal; sentimentos de resignação, raiva, impotência, desvalia e quadros de depressão. As defesas utilizadas foram: repressão, negação, anulação, fantasia, adaptação e sublimação. CONCLUSÕES:As mulheres com ST ou formas variantes têm de lidar com as intercorrências orgânicas e psíquicas da enfermidade provocando grande sofrimento que, frequentemente, dificultam uma inserção social mais sadia. Neste caso, os achados deste estudo poderão nortear acompanhamento psicológico ambulatorial concomitantemente ao protocolo clínico de rotina.OBJECTIVE:To understand the defenses employed by women suffering from Turner syndrome (TS and different ways of dealing with the disease. METHOD: Qualitative research with exploratory design, non-experimental. The instrument consisted of semi-conducted psychological interview, involving 13 women, undergoing semestral medical follow-up at the Women's Health Care Center, and whose sampling was determined by saturation. Data was interpreted using the psychodynamic approach along with an eclectic framework of theoretical references for discussion in the spirit of interdisciplinary approach. RESULTS:These women displayed psychosocial conflicts such as difficulties in interpersonal relationships

The Evolution of Thyroid Function after Presenting with Hashimoto Thyroiditis Is Different between Initially Euthyroid Girls with and Those without Turner Syndrome.

Science.gov (United States)

Wasniewska, Malgorzata; Salerno, Mariacarolina; Corrias, Andrea; Mazzanti, Laura; Matarazzo, Patrizia; Corica, Domenico; Aversa, Tommaso; Messina, Maria Francesca; De Luca, Filippo; Valenzise, Mariella

2016-01-01

To prospectively investigate, during a 5-year follow-up, whether the prognosis of thyroid function with Hashimoto thyroiditis (HT) is different in euthyroid girls with Turner syndrome (TS) than in euthyroid girls without TS. In 66 TS girls and 132 non-TS girls with euthyroid HT and similar thyroid functional test results at HT diagnosis, we followed up the evolution of thyroid status over time. At the end of follow-up, the TS girls exhibited higher TSH levels, lower fT4 levels, and lower prevalence rates of both euthyroidism and subclinical hypothyroidism, but higher prevalence rates of both overt hypothyroidism and hyperthyroidism, irrespective of the karyotype. An association with TS is able to impair the long-term prognosis of thyroid function in girls with HT. Such an effect occurs irrespective of thyroid functional test results at HT diagnosis and is not necessarily linked with a specific karyotype. © 2016 S. Karger AG, Basel.

Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy

DEFF Research Database (Denmark)

Ottesen, Anne-Marie; Aksglaede, Lise; Garn, Inger

2010-01-01

Tall stature and eunuchoid body proportions characterize patients with 47,XXY Klinefelter syndrome, whereas patients with 45,X Turner syndrome are characterized by impaired growth. Growth is relatively well characterized in these two syndromes, while few studies describe the growth of patients wi......,XXXX (n = 13), and -1.0 (-3.5 to -0.8) in 49,XXXXX (n = 3). Height increased with an increasing number of extra X or Y chromosomes, except in males with five, and in females with four or five sex chromosomes, consistent with a nonlinear effect on height....

Mathematical Learning Disabilities in Children with 22q11.2 Deletion Syndrome: A Review

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De Smedt, Bert; Swillen, Ann; Verschaffel, Lieven; Ghesquiere, Pol

2009-01-01

Mathematical learning disabilities (MLD) occur frequently in children with specific genetic disorders, like Turner syndrome, fragile X syndrome and neurofibromatosis. This review focuses on MLD in children with chromosome 22q11.2 deletion syndrome (22q11DS). This syndrome is the most common known microdeletion syndrome with a prevalence of at…

A Psychotic Reaction in a Sex-Chromatin Negative Female ...

African Journals Online (AJOL)

Neuropsychiatric disorders found in association with Turner's syndrome (gonadal agenesis) are unusual. The case report describes a patient with Turner's syndrome who suffered an acute psychotic reaction. A brief review of the literature concerning this association is surveyed. S. Afr. Med. J., 47, 146 (1973) ...

The relationship of periaortic fat thickness and cardiovascular risk factors in children with Turner syndrome.

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Akyürek, Nesibe; Atabek, Mehmet Emre; Eklioglu, Beray Selver; Alp, Hayrullah

2015-06-01

Children with Turner syndrome (TS) have a broad range of later health problems, including an increased risk of cardiovascular morbidity and mortality. The aim of this study was to evaluate the relationship between periaortic fat thickness (PAFT) and metabolic and cardiovascular profiles in children with TS. Twenty-nine TS and 29 healthy children and adolescents were enrolled in the study. Anthropometric measurements, pubertal staging, and blood pressure measurements were performed. Fasting serum glucose, insulin, and lipid profile were measured. Periaortic fat thickness was measured using an echocardiography method, which has not previously been applied in children with TS. No difference was found between TS and control subject (CS) in age, weight, waist/hip ratio, HDL cholesterol and LDL cholesterol levels. However, in TS subjects, total cholesterol (p = 0.045) was greater than that in controls. It was determined that 13.7 % (N: 4) of TS subjects had dyslipidemia. Mean fasting glucose, fasting insulin, QUICK-I, HOMA, and FGIR index were similar in TS and in CS, whereas 17.2 % (N: 5) of TS subjects had insulin resistance (IR) and 13.7 % (N: 4) had impaired glucose tolerance. Six subjects (20.6 %) were diagnosed as hypertensive. Periaortic fat thickness was significantly higher in the TS group (p children with TS, PAFT was positively correlated with fasting insulin, body mass index, and diastolic blood pressure. Our results provide additional evidence for the presence of subclinical cardiovascular disease in TS. In addition to existing methods, we recommend the measurement of periaortic fat thickness in children with TS to reveal the presence of early atherosclerosis.

Chromosomal investigations in patients with mental retardation and/or congenital malformations

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Santos C.B.

2000-01-01

Full Text Available We investigated the chromosomal constitution of patients with mental retardation and/or congenital malformations in order to determine genetic causes for such disturbances. The GTG and CBG banding patterns were studied using phytohemagglutinin M-stimulated lymphocytes cultured from peripheral blood. Among 98 individuals with mental retardation and/or congenital malformations who were analyzed there were 12 cases of Down's syndrome, two of Edward's syndrome, one of Patau's syndrome, five of Turner's syndrome, two of Klinefelter's syndrome, one of "cri-du-chat" syndrome, one case of a balanced translocation between chromosomes 13 and 14, one case of a derivative chromosome and one of a marker chromosome. We found abnormal chromosomes in 26% of the patients, 82% of which were numerical abnormalities, with the remaining 18% being structural variants. We conclude that patients with mental retardation and/or congenital malformations should be routinely karyotyped.

Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation.

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Chen, Chih-Ping; Lin, Shuan-Pei; Tsai, Fuu-Jen; Chern, Schu-Rern; Wang, Wayseen

2008-06-01

To describe the clinical findings of a patient with mosaic 45,X/47,XXX and aortic coarctation. Descriptive case study. Tertiary medical center. A 6-year-old girl with stigmata of Turner syndrome, aortic coarctation, patent ductus arteriosus, and a peculiar facial appearance. None. Cytogenetic analysis. The patient manifested a characteristic Kabuki syndrome facial appearance with long palpebral fissures, everted lateral third of lower eyelids, arched eyebrows, a depressed nasal tip, large dysplastic ears and epicanthic folds. She had undergone cardiac surgery for treatment of aortic coarctation and patent ductus arteriosus. Cytogenetic analysis of the blood lymphocytes revealed a karyotype of mos 45,X,9ph [35 cells]/47,XXX,9ph [5 cells]. This is the first report of mosaic 45,X/47,XXX associated with Kabuki syndrome. We emphasize that Kabuki syndrome, a peculiar facial appearance and aortic coarctation, should be considered in girls with sex chromosome abnormalities.

From Iser to Turner and beyond: reception theory meets cognitive criticism

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Craig Hamilton

2012-01-01

Full Text Available In this essay, we review the work of Wolfgang Iser, the major proponent of reception theory, and Mark Turner, the major proponent of cognitive criticism. The two theoretical lines advocated by Iser and Turner focus on the cognitive processes involved with reading literary texts. Unfortunately, bibliographic blind spots in both lines lead to the assumption that there is little overlap between reception theory and cognitive criticism. We put this assumption to rest by comparing and contrasting works by Iser and Turner in detail, starting with Iser’s work in the mid-1970s and ending with Turner’s work in the late 1990s.

Características clínicas e citogenéticas da síndrome de Turner na região Centro-Oeste do Brasil Clinical and cytogenetic aspects of the Turner syndrome in the Brazilian Western region

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Claudinéia de Araújo

2010-08-01

Full Text Available OBJETIVO: examinar a associação entre características citogenéticas e alterações clínicas em pacientes com síndrome de Turner (ST. MÉTODOS: Foram incluídas 42 pacientes. Os dados clínicos foram colhidos e registrados em formulário padronizado com entrevista do responsável e, quando possível, com a própria paciente, seguido de exame físico detalhado. A associação entre cariótipo e intercorrências clínicas foram examinadas pelo teste do χ2. RESULTADOS: Das pacientes, 64% tinham cariótipo 45,X; 26,2% 45,X/46,X; 7% 45,X/46Xi(Xq e 2,3% 45,X/46,X,Del(Xq. Independentemente do cariótipo, 100% das pacientes apresentaram baixa estatura. A implantação baixa dos cabelos foi mais frequente nas pacientes com cariótipo 45,X (p=0,03. Anomalias cardiovasculares (45%, otites (43%, disfunção da tireoide (33% e hipertensão arterial (26,6% foram as alterações clínicas mais frequentes e não mostraram correlação com o cariótipo. A avaliação de medidas antropométricas revelou correlação positiva entre a idade e o diâmetro da cintura e quadril (r=0,9; p=0,01. Trinta e uma pacientes (74% faziam ou tinham feito uso de medicamentos, sendo que hormônio de crescimento (43%, esteroides sexuais (30%, tiroxina (11,9% e oxandrolona (9,5% foram os mais utilizados. A comparação da idade da gestação no momento em que ocorreu o parto com dificuldade no aprendizado mostrou razão de prevalência de 1,71 (p>0,05. CONCLUSÃO: a implantação baixa dos cabelos é o estigma mais prevalente nas pacientes com cariótipo 45,X e as alterações clínicas mais comuns são as cardiovasculares, otites, hipertensão arterial e disfunções tireoidianas, porém não apresentam correlação com o cariótipo.PURPOSE: to examine the association between cytogenetic characteristics and clinical and epidemiological changes in patients with Turner syndrome (TS. METHODS: Forty-two patients were included. Data were collected using a standardized

Diagnóstico da Síndrome de Turner: a experiência do Instituto Estadual de Diabetes e Endocrinologia - Rio de Janeiro, de 1970 a 2008 Diagnosis of Turner's Syndrome: the experience of the Rio de Janeiro State Institute of Diabetes and Endocrinology between 1970 and 2008

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Monica de Paula Jung

2010-03-01

Full Text Available OBJETIVOS: descrever a experiência no diagnóstico da Síndrome de Turner (ST, focalizando a distribuição dos cromossomos, a idade, os sinais e sintomas característicos, conforme as fases da vida (lactância, infância, adolescência e adulta. MÉTODOS: estudo descritivo com 178 pacientes, atendidos de 1970 até 2008. Para análise estatística das diferenças percentuais usou-se o Epi-Info-2000 e para as diferenças entre as médias de idades o teste t de Student e o ANOVA. RESULTADOS: os cariótipos encontrados foram: 79 com 45,X (35,4%, 36 com isocromossomo Xq (20,2% e 63 com outros mosaicos (35,4%. A média de idade do diagnóstico foi de 12,6 anos, sendo menor naquelas com 45,X. Tiveram o diagnóstico feito na lactância 11,3% das pacientes, 25,3% na infância, 51,1% na adolescência e 12,4% na fase adulta. Daquelas diagnosticadas antes dos cinco anos de idade, 70,6% apresentaram 45,X. Os sinais que levaram à suspeita diagnóstica na lactância foram o pescoço alado e o linfedema congênito de pés/mãos associados às dismorfias típicas; na infância e adolescência foi a baixa estatura. Cubitus valgus foi encontrado em 72,5% das pacientes e orelhas anômalas em 65% das pacientes diagnosticadas com menos de um ano de idade. CONCLUSÃO: o diagnóstico da ST é desnecessariamente atrasado, levando-se em consideração que algumas características típicas podem já estar presentes desde o nascimento.OBJECTIVES: to describe the Rio de Janeiro State Institute of Diabetes and Endocrinology's experience in diagnosing Turner Syndrome (TS, focusing on the distribution of chromosomes, age, and typical signs and symptoms, according to life stage (breast feeding, childhood, adolescence and adulthood. METHODS: a descriptive study was conducted of 178 patients, attending the Institute between 1970 and 2008 for the purposes of statistical analysis of the percentage differences using Epi-Info-2000 and of the differences between the mean ages using

Observational Prospective Study on Patients Treated With Norditropin®

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2017-10-11

Growth Hormone Disorder; Growth Hormone Deficiency in Children; Adult Growth Hormone Deficiency; Genetic Disorder; Turner Syndrome; Foetal Growth Problem; Small for Gestational Age; Chronic Kidney Disease; Chronic Renal Insufficiency; Noonan Syndrome

Grey Turner's and Cullen's signs induced by spontaneous hemorrhage of the abdominal wall after coughing.

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Fan, Zhe; Zhang, Yingyi

2017-08-01

Grey Turner's and Cullen's signs are rare clinical signs, which most appear in patients with severe acute pancreatitis. The present patient complained of abdominal pain after coughing. However, contrast-enhanced CT revealed a hemorrhage of the abdominal wall. Therefore, spontaneous hemorrhage of the abdominal wall was diagnosed. The patient recovered through immobilization and hemostasis therapy. This case report and literature review aims to remind clinicians of manifestations and treatment of spontaneous hemorrhage.

Areeda-Turner in Two-Sided Markets

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Behringer, S.; Filistrucchi, L.

2014-01-01

Areeda and Turner (1975) were the first to argue that a price below marginal costs should be considered a sign of predation. Recognizing that marginal cost data were typically unavailable, the authors concluded that a price below average variable cost should be presumed unlawful. This socalled

Fatores associados a atraso no diagnóstico da síndrome de Turner Investigación de factores asociados a retraso en el diagnóstico del síndrome de Turner Variables associated with diagnostic delay in Turner syndrome

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Jamil Miguel Neto

2011-03-01

transversal con obtención de datos de los prontuarios de 29 pacientes diagnosticadas con ST mayores de 2 años de edad entre 2004 y 2007. Se compararon antecedentes personales y familiares y datos de examen físico de las pacientes diagnosticadas a una edad menor de 13 años (límite a partir del cual se puede caracterizar retraso puberal en niñas con los de aquellas diagnosticadas después de los 13 años mediante las pruebas t y chi-cuadrado. RESULTADOS: No hubo diferencias significativas respecto a la estatura materna y de la paciente misma, historial de afecciones asociadas (consideradas individualmente, escolaridad de los padres; recurrencia familiar de baja estatura, presencia de cada señal dismórfica aislada y total de señales observadas. Los dos grupos difirieron respecto a la presencia de al menos una afección sugestiva de ese síndrome (asociada al diagnóstico más temprano y al número de hermanos (mayor en el diagnóstico tardío y asociado a la menor escolaridad materna. CONCLUSIONES: El diagnóstico temprano se relacionó más a la presencia de alguna de las afecciones asociadas al ST (posiblemente determinando encaminamiento a servicios de mayor complejidad que a señales dismórficas. Hay indicaciones de que déficit de crecimiento menos evidente, dificultades de los médicos en reconocer anomalías sugestivas de ese síndrome y factores socioeconómicos contribuyan para el retraso en el diagnóstico. Es necesario enfatizar en la formación pediátrica el reconocimiento del espectro clínico de ese síndrome y ampliar los servicios públicos de genética.OBJECTIVE: To investigate the possible reasons for diagnostic delay in Turner syndrome (TS, i.e., a diagnosis made after the age when pubertal delay may be established. METHODS: Cross-sectional study with data obtained from the records of 29 TS patients aged more than two years who were diagnosed between 2004 and 2007. Data on personal and family history and physical examination from patients diagnosed

Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-like syndrome versus patients with Lynch syndrome.

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Mas-Moya, Jenny; Dudley, Beth; Brand, Randall E; Thull, Darcy; Bahary, Nathan; Nikiforova, Marina N; Pai, Reetesh K

2015-11-01

Screening for DNA mismatch repair (MMR) deficiency in colorectal and endometrial carcinomas identifies patients at risk for Lynch syndrome. Some patients with MMR-deficient tumors have no evidence of a germline mutation and have been described as having Lynch-like syndrome. We compared the clinicopathological features of colorectal and endometrial carcinomas in patients with Lynch-like syndrome and Lynch syndrome. Universal screening identified 356 (10.6%) of 3352 patients with colorectal carcinoma and 72 (33%) of 215 patients with endometrial carcinoma with deficient DNA MMR. Sixty-six patients underwent germline mutation analysis with 45 patients (68%) having evidence of a germline MMR gene mutation confirming Lynch syndrome and 21 patients (32%) having Lynch-like syndrome with no evidence of a germline mutation. Most patients with Lynch-like syndrome had carcinoma involving the right colon compared to patients with Lynch syndrome (93% versus 45%; P Lynch syndrome confirmed by germline mutation analysis. Synchronous or metachronous Lynch syndrome-associated carcinoma was more frequently identified in patients with Lynch syndrome compared to Lynch-like syndrome (38% versus 7%; P = .04). There were no significant differences in clinicopathological variables between patients with Lynch-like syndrome and Lynch syndrome with endometrial carcinoma. In summary, 32% of patients with MMR deficiency concerning Lynch syndrome will have Lynch-like syndrome. Our results demonstrate that patients with Lynch-like syndrome are more likely to have right-sided colorectal carcinoma, less likely to have synchronous or metachronous Lynch syndrome-associated carcinoma, and less likely to demonstrate isolated loss of MSH6 expression within their tumor. Copyright © 2015 Elsevier Inc. All rights reserved.

Management of moyamoya syndrome in patients with Noonan syndrome.

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Gupta, Mihir; Choudhri, Omar A; Feroze, Abdullah H; Do, Huy M; Grant, Gerald A; Steinberg, Gary K

2016-06-01

A few isolated reports have described an association between Noonan syndrome and cerebrovascular abnormalities, including moyamoya syndrome. These reports have been limited to pediatric patients presenting with recurrent transient ischemic attacks (TIA) or headaches. Management has primarily been pharmacologic, with only one prior report of surgical revascularization to our knowledge. We report four cases of Noonan syndrome patients presenting with headaches and/or sensorimotor strokes in childhood that caused unilateral sensorimotor impairment. Cerebral angiography and MRI revealed bilateral moyamoya syndrome. All patients underwent successful bilateral extracranial-to-intracranial revascularization. The first patient was a 10-year-old girl who presented following a hemorrhagic stroke and recovered well after indirect bypass. The second patient was an adult with a history of childhood stroke whose symptoms progressed in adulthood. She underwent a direct bypass and improved, but continued to experience TIA at her 4 year follow-up. The third patient was a 7-year-old girl with headaches and a new onset TIA who failed pharmacological therapy and subsequently underwent bilateral indirect bypass. The fourth patient was a 24-year-old woman with worsening headaches and an occluded left middle cerebral artery from unilateral moyamoya syndrome. A left sided direct bypass was completed given delayed MRI perfusion with poor augmentation. To our knowledge these are the first reported surgical cases of combined Noonan and moyamoya syndrome. These cases highlight the need to recognize moyamoya syndrome in patients with Noonan syndrome. Early surgical revascularization should be pursued in order to prevent symptom progression. Copyright © 2015 Elsevier Ltd. All rights reserved.

No influence of parental origin of intact X chromosome and/or Y chromosome sequences on three-year height response to growth hormone therapy in Turner syndrome

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Hye Jin Lee

2014-09-01

Full Text Available PurposeWhether parental origin of the intact X chromosome and/or the presence of Y chromosome sequences (Yseq play a role in three-year height response to growth hormone (GH were investigated.MethodsPaternal (Xp or maternal (Xm origin of X chromosome was assessed by microsatellite marker analysis and the presence of hidden Yseq was analyzed. The first-, second-, and third-year GH response was measured as a change in height z-score (Z_Ht in Turner syndrome (TS patients with 45,Xp (n=10, 45,Xm (n=15, and 45,X/46,X,+mar(Y (Xm_Yseq (n=8.ResultsThe mean baseline Z_Ht did not differ according to Xp or Xm origin, however the mean baseline Z_Ht was higher in the Xm_Yseq group than in Xm group, after adjusting for bone age delay and midparental Z_Ht (P=0.04. There was no difference in the height response to GH between the 3 groups. The height response to GH decreased progressively each year (P<0.001, such that the third-year increase in Z_Ht was not significant. This third-year decrease in treatment response was unaffected by Xp, Xm, and Xm_Yseq groups. Increasing GH dosage from the second to third-year of treatment positively correlated with the increase in Z_Ht (P=0.017.ConclusionThere was no evidence of X-linked imprinted genes and/or Yseq affecting height response to 3 years of GH therapy. Increasing GH dosages may help attenuate the decrease in third-year GH response in TS patients with 45,X and/or 46,X/+mar(Y.

Sir William Turner (1832-1916) - Lancastrian, anatomist and champion of the Victorian era.

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Wessels, Quenton; Correia, Janine Carla; Taylor, Adam M

2016-11-01

Sir William Turner, a Lancastrian, was renowned as a scientist, anatomist and a great reformer of medical education. His students became anatomists at various international institutions, which consequently shaped the future of anatomy as a subject matter both in the United Kingdom and in South Africa. Although Turner's accomplishments have been documented, little is known about the details that determined his career path and the individuals that shaped his future. Here the authors aim to highlight some aspects of Turner's academic achievements and his personal life as well as how he crossed paths with other great minds of the Victorian era including Richard Owen, Charles Darwin, James Paget and Joseph Lister. © The Author(s) 2015.

Can Brain Natriuretic Peptides and Osteoprotegerin Serve As Biochemical Markers for the Detection of Aortic Pathology in Children and Adolescents with Turner Syndrome?

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Meenal Mavinkurve

2017-07-01

Full Text Available Turner syndrome (TS is a chromosomal disorder that affects 1:2,000 females. It results from either the complete or partial loss of the X chromosome as well as other aberrations. Clinical features of TS include short stature, delayed puberty, and congenital cardiac malformations. TS children also have an increased prevalence of cardiometabolic risk factors, which predisposes them to complications like coronary artery disease, cerebrovascular-related deaths, and aortic dissection. Early cardiac imaging, such as echocardiography and cardiac magnetic resonance imaging, are recommended to detect underlying aortic pathology. However, these modalities are limited by cost, accessibility, and are operator dependent. In view of these shortcomings, alternative methods, like vascular biomarkers, are currently being explored. There are only a few studies that have examined the relationship between B-type natriuretic peptide (BNP, N-terminal pro BNP (NT pro-BNP, and osteoprotegerin (OPG and aortic disease in TS, and thus the data are only in proof-of-concept stages. Further meticulous longitudinal studies are required before BNP, NT pro-BNP, and OPG are used as vascular biomarkers for the detection of aortic disease in childhood and adolescent TS.

Early treatment with GH alone in Turner syndrome: prepubertal catch-up growth and waning effect.

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Wasniewska, Malgorzata; De Luca, Filippo; Bergamaschi, Rosalba; Guarneri, Maria Pia; Mazzanti, Laura; Matarazzo, Patrizia; Petri, Antonella; Crisafulli, Giuseppe; Salzano, Giuseppina; Lombardo, Fortunato

2004-11-01

In order to ascertain the advantages of early GH treatment in Turner syndrome (TS), we started a prospective study aimed at evaluating prepubertal height gain in a cohort of 29 girls who were treated with the same pro-kilo GH dose (1.0 IU/kg per week) since they were less than 6 years old and for at least 5 years before entering puberty. Following a minimum of 6 months of baseline observations, 29 girls with TS were enrolled for this prospective study provided that they (a) were less than 6 years old, (b) were below -1.0 standard deviation score (SDS) for height, (c) had a projected adult height (PAH) lower than the respective target height (TH) and (d) had a height velocity (HV) lower than -1.0 SDS. All the selected girls underwent a 5-year treatment with biosynthetic GH at a stable dose of 1.0 IU/kg per week and were periodically measured during the treatment period in order to evaluate height, HV and PAH. After a dramatic acceleration during the 1st year, HV was attenuated during the subsequent years, reaching its nadir at the 5th year. Height deficiency under therapy progressively decreased from entry onwards, shifting from -2.4+/-0.7 to -1.0+/-1.2 SDS. In the same period, mean PAH progressively increased, although after 5 years it remained lower than the average TH. (a) An effective growth-promoting strategy in TS should be based on early GH treatment, as suggested by our results. (b) This strategy could result in a prepubertal normalization of height, thus allowing the appropriate timing for the induction of puberty. (c) An initial GH dose of 1.0 IU/kg per week may be suitable during the first years of therapy, as shown by our data documenting an important waning effect of GH therapy only after the 4th year of treatment. (d) No acceleration of bone maturation was observed under this treatment regimen.

Growth hormone treatment in non-growth hormone-deficient children

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Sandro Loche

2014-03-01

Full Text Available Until 1985 growth hormone (GH was obtained from pituitary extracts, and was available in limited amounts only to treat severe growth hormone deficiency (GHD. With the availability of unlimited quantities of GH obtained from recombinant DNA technology, researchers started to explore new modalities to treat GHD children, as well as to treat a number of other non-GHD conditions. Although with some differences between different countries, GH treatment is indicated in children with Turner syndrome, chronic renal insufficiency, Prader-Willi syndrome, deletions/mutations of the SHOX gene, as well as in short children born small for gestational age and with idiopathic short stature. Available data from controlled trials indicate that GH treatment increases adult height in patients with Turner syndrome, in patients with chronic renal insufficiency, and in short children born small for gestational age. Patients with SHOX deficiency seem to respond to treatment similarly to Turner syndrome. GH treatment in children with idiopathic short stature produces a modest mean increase in adult height but the response in the individual patient is unpredictable. Uncontrolled studies indicate that GH treatment may be beneficial also in children with Noonan syndrome. In patients with Prader-Willi syndrome GH treatment normalizes growth and improves body composition and cognitive function. In any indication the response to GH seems correlated to the dose and the duration of treatment. GH treatment is generally safe with no major adverse effects being recorded in any condition.

Isolated pons involvement in Posterior Reversible Encephalopathy Syndrome: Case report and review of the literature

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Mariangela Ferrara

2017-03-01

Conclusions: Though isolated infratentorial involvement in PRES recognizes several causes, hypertension, which is a common feature in Turner syndrome, would have played a key role in our case with solely pons MRI T2-hyperintensity.

Chromosome radiosensitivity and kinetics of proliferation of peripheral lymphocytes in individuals with aneuploid karyotype

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Konecna, H; Kalina, I; Ondrussekova, A

1988-08-01

Experimentally investigated was the radiosensitivity of chromosomes and the kinetics of the proliferation of peripheral lymphocytes in patients with aneuploid (DS and TS) and normal karyotype irradiated in vitro in the G/sub o/ stage of the cell cycle. Trisomic lymphocytes were found to proliferate more rapidly in the in vitro culture and to be more sensitive than diploid cell populations. In monosomic lymphocytes in Turner syndrome patients, the proliferation and incidence of chromosomal abberations was similar to the disomic lines in Down's syndrome patients and in Turner syndrome patients, and to that found in persons with a normal karyotype. The results of the experiment show that there is a relationship between the proliferation rate of peripheral lymphocytes cultures in vitro and the radiosensivity of chromosomes. (author). 1 tab., 3 figs., 11 refs.

Chromosome radiosensitivity and kinetics of proliferation of peripheral lymphocytes in individuals with aneuploid karyotype

International Nuclear Information System (INIS)

Konecna, H.; Kalina, I.; Ondrussekova, A.

1988-01-01

Experimentally investigated was the radiosensitivity of chromosomes and the kinetics of the proliferation of peripheral lymphocytes in patients with aneuploid (DS and TS) and normal karyotype irradiated in vitro in the G o stage of the cell cycle. Trisomic lymphocytes were found to proliferate more rapidly in the in vitro culture and to be more sensitive than diploid cell populations. In monosomic lymphocytes in Turner syndrome patients, the proliferation and incidence of chromosomal abberations was similar to the disomic lines in Down's syndrome patients and in Turner syndrome patients, and to that found in persons with a normal karyotype. The results of the experiment show that there is a relationship between the proliferation rate of peripheral lymphocytes cultures in vitro and the radiosensivity of chromosomes. (author). 1 tab., 3 figs., 11 refs

[Asthenic syndrome in patients with burnout syndrome].

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Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A

2013-01-01

The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research.

The Turner Legacy: The Storied Origins and Enduring Impact of White Nationalism’s Deadly Bible

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J.M. Berger

2016-09-01

Full Text Available The Turner Diaries, the infamous racist dystopian novel by neo-Nazi William Luther Pierce, has inspired more than 200 murders since its publication in 1978, including the single deadliest act of domestic terrorism in U.S. history, the Oklahoma City bombing. The book is arguably the most important single work of white nationalist propaganda in the English language, but it is not a singular artifact. The Turner Diaries is part of a genre of racist dystopian propaganda dating back to the U.S. Civil War. This paper will document the books that directly and indirectly inspired Turner and examine the extensive violence that the novel has inspired. By comparing and contrasting The Turner Diaries to its less-remembered predecessors, this paper analyses the reasons for the novel’s lasting impact, including its focus on rational choices over identity choices, its simplification of white nationalist ideology, its repeated calls to action, and the powerfully persuasive nature of dystopian narratives, which can be understood as a secular analogue for religious apocalyptic texts.

Screening for Cushing's syndrome in obese patients

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Ozay Tiryakioglu

2010-01-01

Full Text Available OBJECTIVES: The aim of this study was to examine the frequency of Cushing's syndrome (CS in obese patients devoid of specific clinical symptoms of Cushing's syndrome. METHODS: A total of 150 obese patients (129 female, 21 male; mean age 44.41 ± 13.34 yr; mean BMI 35.76 ± 7.13 were included in the study. As a first screening step, we measured 24-h urinary free cortisol (UFC. An overnight 1-mg dexamethasone suppression test was also performed on all patients. Urinary free cortisol levels above 100 μg/24 h were considered to be abnormal. Suppression of serum cortisol 100 μg/24 h were recorded in 37 patients (24%. Cushing's syndrome was diagnosed in 14 of the 150 patients (9.33%. Etiologic reasons for Cushing's syndrome were pituitary microadenoma (9 patients, adrenocortical adenoma (3 patients, and adrenocortical carcinoma (1 patient. CONCLUSION: A significant proportion (9.33% of patients with simple obesity were found to have Cushing's syndrome. These findings argue that obese patients should be routinely screened for Cushing's syndrome.

Malignant vasovagal syndrome in two patients with Wolff-Parkinson-White syndrome

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Gandhi, N M; Bennett, D H

2004-01-01

The presence of Wolff-Parkinson-White (WPW) syndrome in patients presenting with syncope suggests that tachyarrhythmia may be the cause. However, the symptoms require careful evaluation. Two young patients presented with syncope and were found to have WPW syndrome on their ECG. In both patients symptoms were suggestive of vasovagal syncope. During tilt testing, both the patients developed their typical symptoms with a fall in blood pressure and heart rate confirming the diagnosis of malignant vasovagal syndrome. PMID:15020537

A Chinese patient with pusher syndrome and unilateral spatial neglect syndrome.

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Chen, Xiao-Wei; Lin, Cheng-He; Zheng, Hua; Lin, Zhen-Lan

2014-07-01

To observe clinical manifestations, behavioral characteristics, and effects of rehabilitation on a patient with pusher syndrome and unilateral spatial neglect caused by right thalamic hemorrhage. Assessment of pusher syndrome was made by the Scale for Contraversive pushing (SCP), and unilateral spatial neglect syndrome was diagnosed using line cancellation, letter and star cancellation, line bisection tests and copy and continuation of graphic sequence test. Behavioral therapy, occupational therapy, reading training and traditional Chinese medicine methods were adopted for treatment of pusher syndrome and unilateral spatial neglect. The patient showed typical pusher syndrome and unilateral spatial neglect symptoms. The pusher syndrome and unilateral spatial neglect symptoms were significantly improved following rehabilitation treatments. Pusher syndrome and unilateral spatial neglect syndrome occurred simultaneously after right thalamic hemorrhage. Early rehabilitation therapy can reduce the symptoms of pusher syndrome and unilateral spatial neglect syndrome and improve motor function.

Radioimmunological determination of follicle stimulating hormone in the serum of patients with various gonadal disturbances

International Nuclear Information System (INIS)

Otte, P.

1982-01-01

A new kit for FSH determination in the serum was tested: the precision, sensitivity and specificity of this kit were adequate. With 185 men and 99 women with various hypophyseal and gonadal disorders the serum FSH was determined in radioimmunoassay as a supplement for diagnostic. Patients with hypophyseal tumors had to some extent pre-operatively increased and after hypophysectomy in general subnormal FSH values. Male patients with primary hypogonadism had without substitution therapy inclusively distinct to pronounced FSH level increases. With young patients with gynecomastia FSH values which lay primarily in the normal range were measured. Female patients with primary ovarial insufficiency often indicated very sharp increases in FSH levels. Female patients with Turner syndrome showed high FSH values at puberty age. In girls with hyposomia and hypogonadism high FSH levels refer accordingly to such a syndrome. (orig.) [de

Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome.

Science.gov (United States)

Linglart, A; Cabrol, S; Berlier, P; Stuckens, C; Wagner, K; de Kerdanet, M; Limoni, C; Carel, J-C; Chaussain, J-L

2011-06-01

Adult height deficit seen in Turner syndrome (TS) originates, in part, from growth retardation in utero and throughout the first 3 years of life. Earlier diagnosis enables earlier therapeutic intervention, such as with recombinant human GH (r-hGH), which may help to prevent growth retardation. In this open-label, multicentre phase III study, we investigated efficacy and safety in r-hGH treatment in young girls with TS. Girls (n=61) aged <4 years with TS receiving 0.035-0.05 mg/kg per day r-hGH for 4 years were compared with an historical control group (n=51) comprising untreated, age- and height-matched girls with TS. The main outcome measure was change in height SDS (H-SDS). Other measures included changes in height velocity SDS, IGF1 levels and glucose metabolism. After 4 years, a gain in mean H-SDS of 1.0 SDS (from -2.33±0.73 to -1.35±0.86 SDS) was observed with r-hGH treatment, in contrast to the decrease in mean H-SDS of 0.3 SDS in the control group (from -2.09±0.81 to -2.44±0.73 SDS; P<0.0001). r-hGH treatment was the main predictor of H-SDS gain and accounted for 52% of variability (multivariate analysis). r-hGH was well tolerated. As expected, IGF1 levels rose with treatment. A case of transient glucose intolerance resolved after dietary adaptation. Early treatment with r-hGH helps to prevent natural evolution towards short stature in most girls with TS. IGF1 levels and glucose metabolism should be monitored routinely during r-hGH therapy.

Terence S. Turner (1935-2015

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Villarías-Robles, Juan J. R.

2016-06-01

Full Text Available U. S. anthropologist Terence S. Turner died in November, 2015, after a long and intense life devoted to studying the indigenous peoples of Brazil and Amazonia, especially the Kayapó. He was as keen to reconstruct their culture prior to contact with the Portuguese and later Brazilian frontier, as he was to monitor the transformation process that such contact stimulated. In the early 2000s, he was actively involved in the controversy triggered by Patrick Tierney’s Darkness in El Dorado: How Scientists and Journalists Devastated the Amazon, which dealt with the negative impact on the Yanomami of certain forms of scientific research conducted in the West.El antropólogo estadounidense Terence S. Turner falleció en noviembre de 2015, dejando tras de sí una larga e intensa vida dedicada a la investigación sobre los pueblos originarios del Brasil y la Amazonía, en particular sobre los Cayapó. Le interesó tanto la reconstrucción de su cultura anterior al contacto con la frontera portuguesa y luego brasileña como el proceso de transformación que este contacto estimuló. En los primeros años de la década de 2000 participó activamente en la controversia desencadenada por la publicación del libro Darkness in El Dorado: How Scientists and Journalists Devastated the Amazon, de Patrick Tierney, acerca del impacto negativo sobre los Yanomami de ciertas formas de investigación científica practicadas en Occidente.

Prevalence of Burnout Syndrome in patients admitted with acute coronary syndrome.

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Prosdócimo, Ana Cláudia Giaxa; Lucina, Luciane Boreki; Marcia, Olandoski; Jobs, Priscila Megda João; Schio, Nicolle Amboni; Baldanzi, Fernanda Fachin; Costantini, Costantino Ortiz; Benevides-Pereira, Ana Maria Teresa; Guarita-Souza, Luiz Cesar; Faria-Neto, José Rocha

2015-03-01

Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS). To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI), which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE), emotional distancing (EmD), dehumanization (De) and professional fulfillment (PF). The Lipp's Stress Symptoms Inventory for Adults (LSSI) was applied to evaluate global stress. Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.

Incidence of refeeding syndrome in internal medicine patients.

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Kraaijenbrink, B V C; Lambers, W M; Mathus-Vliegen, E M H; Siegert, C E H

2016-03-01

Refeeding syndrome is a potentially fatal shift of fluids and electrolytes that may occur after reintroducing nutrition in a malnourished patient. Its incidence in internal medicine patients is not known. We aimed at determining the incidence in a heterogeneous group of patients acutely admitted to a department of internal medicine. All patients acutely admitted to the department of internal medicine of a teaching community hospital in Amsterdam, the Netherlands, between 22 February 2011 and 29 April 2011, were included. We applied the National Institute for Health and Care Excellence (NICE) criteria for determining people at risk of refeeding syndrome and took hypophosphataemia as the main indicator for the presence of this syndrome. Of 178 patients included in the study, 97 (54%) were considered to be at risk of developing refeeding syndrome and 14 patients actually developed the syndrome (14% of patients at risk and 8% of study population). Patients with a malignancy or previous malignancy were at increased risk of developing refeeding syndrome (p refeeding syndrome. The Short Nutritional Assessment Questionnaire score had a positive and negative predictive value of 13% and 95% respectively. The incidence of refeeding syndrome was relatively high in patients acutely admitted to the department of internal medicine. Oncology patients are at increased risk of developing refeeding syndrome. When taking the occurrence of hypophosphataemia as a hallmark, no other single clinical or composite parameter could be identified that accurately predicts the development of refeeding syndrome.

The Bentall procedure in patients with Marfan's syndrome.

Science.gov (United States)

Nguyen, K H; Ergin, M A; Galla, J D; Lansman, S L; McCullough, J N; Griepp, R B

1997-01-01

From 1985 to 1996, 18 patients with Marfan's syndrome underwent the Bentall procedure at Mount Sinai Hospital. They are compared with 38 patients aged Marfan's syndrome who also underwent composite valve-graft replacement of the ascending aorta. The mean age of the non-Marfan group was 33 while that of the Marfan group was 29. Nearly three-quarters of each group were male. Aortic dissection was present in 33% of the Marfan group but only in 18% of the other group. Seventy-eight percent of the Marfan patients and 89% of the non-Marfan patients had aortic regurgitation. Twenty-one percent of the patients in the control group nevertheless had gross aortic pathology suggestive of Marfan's syndrome and may have had variants of the syndrome; 26% of the non-Marfan group had a bicuspid aortic valve. A modification of the Bentall procedure with implantation of coronary artery buttons was performed in the majority of the patients in both groups. Three patients, all in the group with Marfan's syndrome, required a concomitant mitral valve procedure. There was one death in each group. Two non-Marfan patients required reoperation; neither had dissection. Four patients with Marfan's syndrome underwent reoperation for distal disease in the aorta; they comprised one third of the Marfan patients who had aortic dissection. Three late complications occurred in the group with Marfan's syndrome: progressive cardiomyopathy; myocardial infarction; and late tamponade. There were also two late sudden deaths in the group with Marfan's syndrome, which may have been the consequence of aortic rupture. No difference in immediate operative mortality following the Bentall procedure was noted between patients with and without Marfan's syndrome, but young patients without Marfan's syndrome seem to have better event-free and long-term survival. In patients with Marfan's syndrome, the presence of acute dissection makes reoperation more likely, and sudden death from rupture still occurs despite careful

Preliminary Evidence for Aortopathy and an X-Linked Parent-of-Origin Effect on Aortic Valve Malformation in a Mouse Model of Turner Syndrome

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Robert B. Hinton

2015-07-01

Full Text Available Turner syndrome (TS, most frequently caused by X-monosomy (45,X, is characterized in part by cardiovascular abnormalities, including aortopathy and bicuspid aortic valve (BAV. There is a need for animal models that recapitulate the cardiovascular manifestations of TS. Extracellular matrix (ECM organization and morphometrics of the aortic valve and proximal aorta were examined in adult 39,XO mice (where the parental origin of the single X was paternal (39,XPO or maternal (39,XMO and 40,XX controls. Aortic valve morphology was normal (tricuspid in all of the 39,XPO and 40,XX mice studied, but abnormal (bicuspid or quadricuspid in 15% of 39,XMO mice. Smooth muscle cell orientation in the ascending aorta was abnormal in all 39,XPO and 39,XMO mice examined, but smooth muscle actin was decreased in 39,XMO mice only. Aortic dilation was present with reduced penetrance in 39,XO mice. The 39,XO mouse demonstrates aortopathy and an X-linked parent-of-origin effect on aortic valve malformation, and the candidate gene FAM9B is polymorphically expressed in control and diseased human aortic valves. The 39,XO mouse model may be valuable for examining the mechanisms underlying the cardiovascular findings in TS, and suggest there are important genetic modifiers on the X chromosome that modulate risk for nonsyndromic BAV and aortopathy.

Health-related quality of life of young adults with Turner syndrome following a long-term randomized controlled trial of recombinant human growth hormone

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Van Vliet Guy

2011-05-01

Full Text Available Abstract Background There are limited long-term randomized controlled trials of growth hormone (GH supplementation to adult height and few published reports of the health-related quality of life (HRQOL following treatment. The present follow-up study of young adults from a long-term controlled trial of GH treatment in patients with Turner syndrome (TS yielded data to examine whether GH supplementation resulted in a higher HRQOL (either due to taller stature or from the knowledge that active treatment and not placebo had been received or alternatively a lower HRQOL (due to medicalization from years of injections. Methods The original trial randomized 154 Canadian girls with TS aged 7-13 years from 13 centres to receive either long-term GH injections at the pharmacologic dose of 0.3 mg/kg/week or to receive no injections; estrogen prescription for induction of puberty was standardized. Patients were eligible for the follow-up study if they were at least 16 years old at the time of follow-up. The instrument used to study HRQOL was the SF-36, summarized into physical and mental component scales (PCS and MCS; higher scores indicate better HRQOL. Results Thirty-four of the 48 eligible participants (71% consented to participate; data were missing for one patient. Both groups (GH and no treatment had normal HRQOL at this post-treatment assessment. The GH group had a (mean ± SD PCS score of 56 ± 5; the untreated group 58 ± 4; mean score for 16-24 year old females in the general population 53.5 ± 6.9. The GH group had a mean MCS score of 52 ± 6; the untreated group 49 ± 13; mean score for 16-24 year old females in the general population 49.6 ± 9.8. Secondary analyses showed no relationship between HRQOL and height. Conclusions We found no benefit or adverse effect on HRQOL either from receiving or not receiving growth hormone injections in a long-term randomized controlled trial, confirming larger observational studies. We suggest that it remains

Prevalence of chromosomal abnormalities in Sri Lankan women with primary amenorrhea.

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Samarakoon, Lasitha; Sirisena, Nirmala D; Wettasinghe, Kalum T; Kariyawasam, Kariyawasam Warnakulathanthrige Jayani C; Jayasekara, Rohan W; Dissanayake, Vajira H W

2013-05-01

Chromosomal abnormalities are implicated in the etiology of primary amenorrhea. The underlying chromosomal aberrations are varied and regional differences have been reported. The objective of this study is to describe the prevalence of various types of chromosomal abnormalities in Sri Lankan women with primary amenorrhea. Medical records of all patients diagnosed with primary amenorrhea referred for cytogenetic analysis to two genetic centers in Sri Lanka from January 2005 to December 2011 were reviewed. Chromosome culture and karyotyping was performed on peripheral blood samples obtained from each patient. Data were analyzed using standard descriptive statistics. Altogether 338 patients with primary amenorrhea were karyotyped and mean age at testing was 20.5 years. Numerical and structural chromosomal abnormalities were noted in 115 (34.0%) patients which included 45,X Turner syndrome (10.7%), Turner syndrome variants (13.9%), XY females (6.5%), 45,X/46,XY (0.9%), 46,XX/46,XY (0.6%), 47,XXX (0.3%), 47,XX,+ mar (0.3%), 46,X,i(X)(p10) (0.3%), 46,XX with SRY gene translocation on X chromosome (0.3%) and 46,XX,inv(7)(p10;q11.2) (0.3%). Short stature, absent secondary sexual characteristics, neck webbing, cubitus valgus and broad chest with widely spaced nipples were commonly seen in patients with Turner syndrome and variant forms. Neck webbing and absent secondary sexual characteristics were significantly associated with classical Turner syndrome than variant forms. A considerable proportion of women with primary amenorrhea had chromosomal abnormalities. Mean age at testing was late suggesting delay in referral for karyotyping. Early referral for cytogenetic evaluation is recommended for the identification of underlying chromosomal aberrations in women with primary amenorrhea. © 2012 The Authors. Journal of Obstetrics and Gynaecology Research © 2012 Japan Society of Obstetrics and Gynecology.

Prevalence of Burnout Syndrome in Patients Admitted with Acute Coronary Syndrome

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Ana Cláudia Giaxa Prosdócimo

2015-03-01

Full Text Available Background: Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS. Objective: To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Methods: Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged <65 years, hospitalized with diagnosis of ACS. The Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI, which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE, emotional distancing (EmD, dehumanization (De and professional fulfillment (PF. The Lipp’s Stress Symptoms Inventory for Adults (LSSI was applied to evaluate global stress. Results: Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. Conclusion: We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.

Health status in women with Turner syndrome: a questionnaire study on health status, education, work participation and aspects of sexual functioning.

Science.gov (United States)

Naess, Eva Elisabeth; Bahr, David; Gravholt, Claus H

2010-05-01

Turner syndrome (TS) is a complex medical condition with specific cognitive and psychosocial characteristics and frequent medical morbidity. Few studies have investigated the influence this has on health status, education and ability to work. To explore health status, level of education, work participation, medical conditions, physical activity, satisfaction with life and aspects of sexual functioning in adult TS women and compare with a matched control group. A questionnaire was sent to 168 adult women with TS >18 years registered in a database of Frambu Resource Centre for Rare Disorders and The TS Association in Norway. We assessed health status with Short Form 36, education with Norwegian Standard Classification of Education, and employment with The General Nordic Questionnaire. Life satisfaction was measured with LiSat-9, and questions on psychological strain during life phases were included. Eighty women with TS (34.0 +/- 11.7 years) and 214 controls (32.9 +/- 10.6) responded. The TS group reported significantly more health problems and impaired health status in the two subscales "physical functioning" and "general health" (P education and work participation was similar among TS and controls. TS moved away from their parents' home later than controls (20.4 +/- 4.0 vs. 18.7 +/- 2.1, P = 0.001). Age at sexual debut differed significantly (21.2 +/- 4.3 vs. 17.3 +/- 2.4 years, P education and level of employment as controls, they report more frequent occurrence of medical conditions, but scored lower on only two subscales in the SF-36. Despite considerable medical morbidity, TS seem to cope well with life.

Adult height in Turner syndrome girls after long-term growth hormone treatment Talla adulta en pacientes con síndrome de Turner tratadas con hormona de crecimiento a largo plazo

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Analía Morín

2009-10-01

Full Text Available We studied the adult height (AH outcome, and factors likely to influence it, in Turner Syndrome (TS girls treated with growth hormone (GH. A total of 25 TS girls treated with GH were compared with 10 TS girls not treated with GH. The percentage of girls who achieved normal third percentile was determined. Projected AH (PAH was calculated according to height standard deviation score (HSDS at the beginning of the treatment. Gain in height was determined as: AH - pretreatment PAH. The percentage of girls who achieved target range (midparental height±2 SD was determined. Multiple linear regression models were fitted on baseline variables- chronological age (CA, midparental height (MPH and HSDS; and treatment variablesduration of oestrogen-free GH therapy and duration of GH therapy+oestrogens. As for baseline data: median CA was 13.0 years (5.6-15.8. Mean HSDS was 0.25±1.1 SDS. PAH was 139.2±5.6 cm. MPH was 160.0±5.0 cm. As for follow up data: Median CA at onset oestrogens was 15.1 years (13.2-16.6. Median duration of GH therapy was 3.8 years (2.1-10.3. Median oestrogen-free GH period was 2.0 years (0.7-7.8, and median GH+oestrogens period, 1.8 years (1.0-3.2. Adult height: Mean AH was 150.4±7.0 cm in treated patients and 140.8±7.2 cm in the group not treated with GH (p=0.001. Fourteen (56% girls achieved normal third percentile compared with an initially predicted 1 (4%. Gain in height was 11.2±3.7 cm. Thirteen (59% girls reached an AH within target range. HSDS at the beginning of the treatment was the variable most strongly related to AH and duration of oestrogen-free GH period was the variable most strongly related to gain in height.Se estudió la talla adulta (TA y los factores que pudieran influenciarla en niñas con síndrome de Turner (ST tratadas con hormona de crecimiento (HC. Se compararon 25 pacientes con ST tratadas con HC y 10 niñas no tratadas. Se determinó: el porcentaje de niñas que alcanzó el tercer percentilo de la curva

Epidemiology of SHOX deficiency.

Science.gov (United States)

Nicolosi, A; Caruso-Nicoletti, M

2010-06-01

Deletion of short stature homeobox-containing (SHOX) gene, in the pseudoautosomal region (PAR1) of X and Y chromosomes, is an important cause of short stature. Homozygous loss of SHOX results in the more severe Langer mesomelic dysplasia, while SHOX haploinsufficiency cause a wide spectrum of short stature phenotypes, including patients with Turner syndrome, Leri Weill dyschondrosteosis (LWD), and idiopathic short stature (ISS). In Turner syndrome, haploinsufficiency of SHOX gene, as well as short stature, are present in 100%; nevertheless, SHOX deficiency accounts for only two-thirds of Turner patients' short stature. In LWD the prevalence of SHOX gene anomalies varies from 56% to 100%. This wide range might be due to different factors such as selection criteria of patients, sample size, and method used for screening SHOX mutations. The real challenge is to establish the prevalence of SHOX deficiency in ISS children given that published studies have reported this association with a very broad frequency range varying from 1.5% to 15%. An important variable in these studies is represented by the method used for screening SHOX mutations and sometimes by differences in patient selection. Short stature is present by definition in 3 out of 100 subjects; if we consider a frequency of SHOX defects of 3% among ISS, we should expect a population prevalence of 1 in 1000. This prevalence would be higher than that of GH deficiency (1:3,500) and of Turner syndrome (1:2,500 females), suggesting that SHOX deficiency could be one of the most frequent monogenetic causes of short stature.

Jacobsen syndrome

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Grossfeld Paul

2009-03-01

Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

RESISTANT HYPERTENSION IN A PATIENT WITH METABOLIC SYNDROME

OpenAIRE

O. M. Drapkina; J. S. Sibgatullina

2016-01-01

Clinical case of resistant hypertension in a patient with metabolic syndrome is presented. Features of hypertension in metabolic syndrome and features of metabolic syndrome in women of pre- and postmenopausal age are also considered. Understanding the features of metabolic syndrome in women, as well as features of hypertension and metabolic syndrome will improve the results of treatment in patients with resistant hypertension.

Subclinical nephritic syndrome in children cohabiting with pediatric patients, Presenting acute nephritic syndrome

OpenAIRE

Guerrero-Tinoco Gustavo Adolfo; Julio-Barrios Emil

2012-01-01

Introduction: subclinical nephritic syndrome is the presence of hematuria, hypocomplementemiaand/or proteinuria without the presence of signs and/or symptoms.Objective: to determine the incidence of subclinical nephritic syndrome in childrenliving with pediatric patients diagnosed with acute nephritic syndrome.Methods: family visit to identify children living together in the two previous months, with pediatric patients hospitalized with acute nephritic syndrome, at Hospital InfantilNapoleon F...

45,X/47,XXX Mosaicism and Short Stature.

Science.gov (United States)

Everest, Erica; Tsilianidis, Laurie A; Haider, Anzar; Rogers, Douglas G; Raissouni, Nouhad; Schweiger, Bahareh

2015-01-01

We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical Turner syndrome, which is what we mostly see in our patient. However, this patient is a special case, because she is exceptionally short. Overall, one cannot predict the resultant phenotype in these mosaic conditions. This creates difficulty in counseling parents whose children or fetuses have these karyotypes.

Vaginal rhabdomyosarcoma in a patient with Noonan syndrome.

OpenAIRE

Khan, S; McDowell, H; Upadhyaya, M; Fryer, A

1995-01-01

This is the first report of a Noonan syndrome patient who has had a vaginal rhabdomyosarcoma. Recent reports of Noonan syndrome patients with leukaemia have prompted speculation that there may be a slightly increased malignancy risk associated with this syndrome.

Frequency of Metabolic Syndrome and Its Components in Patients with Carpal Tunnel Syndrome

International Nuclear Information System (INIS)

Iftikhar, S.; Javed, M. A.; Kasuri, M. N.

2016-01-01

Objective: To determine the frequency of metabolic syndrome and its components in patients with carpal tunnel syndrome. Study Design: Case-series. Place and Duration of Study: Department of Neurology, Mayo Hospital, Lahore, from January to June 2012. Methodology: Seventy-five (64 females and 11 males) patients with clinically diagnosed and electrodiagnostically confirmed carpal tunnel syndrome were inducted. Their waist circumference, blood pressure, fasting blood glucose, fasting triglycerides and high density lipoprotein cholesterol levels were recorded. Patients were categorized having metabolic syndrome according to Adult Treatment Panel III criteria, if any 3 were present out of hypertension, elevated fasting triglycerides, reduced high density lipoprotein cholesterol, elevated fasting blood glucose, and elevated waist circumference. Result: Mean age of the patients was 42.04±9.31 years, mean waist circumference was 95.32±9.03 cm, mean systolic blood pressure was 134.13±13.72 mmHg, mean diastolic blood pressure was 89.13±8.83 mmHg, mean fasting blood glucose was 94.35±21.81 mg/dl, mean fasting triglycerides was 177.48±48.69 mg/dl, and mean high density lipoprotein cholesterol was 41.95±11.17 mg/dl. Metabolic syndrome was found in 54 (72 percentage) patients including 9 (16.7 percentage) males and 45 (83.3 percentage) females. Out of 75 patients, 54 (72 percentage) had elevated waist circumference, 52 (69.3 percentage) had elevated blood pressure, 19 (25.3 percentage) had elevated fasting blood glucose, 53 (70.6 percentage) had elevated fasting triglycerides and 54 (72 percentage) had reduced high density lipoprotein cholesterol. Highest frequency of metabolic syndrome was found in age range of 40 - 49 years in both genders. Conclusion: Metabolic syndrome is frequently found in the patients with carpal tunnel syndrome. (author)

Supernumerary teeth in non-syndromic patients

International Nuclear Information System (INIS)

Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh

2012-01-01

Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

Twenty-two patients with Sotos' syndrome

International Nuclear Information System (INIS)

Miyake, Shota; Tada, Hiroshi; Hayashi, Michiko; Iwamoto, Hiroko; Fukushima, Yoshimitsu; Kuroki, Yoshikazu

1985-01-01

A retrospective study of 22 patients with Sotos' syndrome (17 boys and 5 girls) seen in the past 14 years was made respecting the age of the patients at the first visit, the age of the patients' parents at birth, neonatal abnormalities, neonatal physical characteristics, facial expression characteristics of this syndrome, growth index, and CT findings. CT showed ventricular dilation in all patients (moderate or extreme dilation in 87%, and the association of structure abnormality in the median part in many patients), subdural edema in 4 and arachnoid cyst in 2. (Namekawa, K.)

The contribution of professor G. I. Turner in pediatric orthopedics and clinical surgery (160th anniversary of birth

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T. Sh Morgoshiya

2018-01-01

Full Text Available The article is devoted to the multifarious activities of Genrikh Ivanovich Turner (1858–1941. It is noted that originally G.I. Turner was interested in problems abstracted from orthopedics: acute purulent processes in the right iliac fossa, etc. In 1895, Turner was appointed Professor of  the Department of Desmurgy and Mechanics of  the Military Medical Academy. He revived the teaching of the subject and transmitted it into “broad practical soil”. Genrikh Ivanovich Turner became one of the founders of the Russian orthopedics, the organizer and the head (since 1900 of the first in Russia department and clinic of orthopedics. G.I. Turner gave a lot of power and energy to render assistance to sick children suffering from physical disabilities, restore the working capacity of children with disabilities. For many years he was in charge of the orphanage in St. Petersburg, which was transformed into the G.I. Turner Research Institute of Child Disability in 1932. This institution became an organizational and methodological center for combating child disability in  the Soviet Union. Genrikh Ivanovich was the first in Russia, who raised his voice in favor of  the disabled child, pointed out the need to provide systematic state assistance to disabled children with diseases of the musculoskeletal system.

Male patients with partial androgen insensitivity syndrome

DEFF Research Database (Denmark)

Hellmann, Philip; Christiansen, Peter; Johannsen, Trine Holm

2012-01-01

To describe the natural history of phenotype, growth and gonadal function in patients with partial androgen insensitivity syndrome.......To describe the natural history of phenotype, growth and gonadal function in patients with partial androgen insensitivity syndrome....

Lynch syndrome: the patients' perspective

NARCIS (Netherlands)

Seppen, Jurgen; Bruzzone, Linda

2013-01-01

People with Lynch syndrome have a high lifetime risk for the development of colorectal, endometrial and several other types of cancer. Lynch syndrome is caused by germline mutations in genes encoding DNA mismatch repair proteins. In this review, issues that concern Lynch patients are highlighted

[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].

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Carcavilla, Atilano; García-Miñaúr, Sixto; Pérez-Aytés, Antonio; Vendrell, Teresa; Pinto, Isabel; Guillén-Navarro, Encarna; González-Meneses, Antonio; Aoki, Yoko; Grinberg, Daniel; Ezquieta, Begoña

2015-01-20

To describe 11 patients with cardiofaciocutaneous syndrome (CFC) and compare them with 130 patients with other RAS-MAPK syndromes (111 Noonan syndrome patients [NS] and 19 patients with LEOPARD syndrome). Clinical data from patients submitted for genetic analysis were collected. Bidirectional sequencing analysis of PTPN11, SOS1, RAF1, BRAF, and MAP2K1 focused on exons carrying recurrent mutations, and of all KRAS exons were performed. Six different mutations in BRAF were identified in 9 patients, as well as 2 MAP2K1 mutations. Short stature, developmental delay, language difficulties and ectodermal anomalies were more frequent in CFC patients when compared with other neuro-cardio-faciocutaneous syndromes (P<.05). In at least 2 cases molecular testing helped reconsider the diagnosis. CFC patients showed a rather severe phenotype but at least one patient with BRAF mutation showed no developmental delay, which illustrates the variability of the phenotypic spectrum caused by BRAF mutations. Molecular genetic testing is a valuable tool for differential diagnosis of CFC and NS related disorders. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

Geriatric syndromes in patients with chronic kidney disease

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Tomasz Gołębiowski

2016-06-01

Full Text Available The recent epidemiologic data pointed out, that the general number of patients on hemodialysis is steadily increasing, especially in group of elderly patients over 75 years old. The geriatric syndromes are a multietiological disorder related to physiological aging and partly associated with comorbid conditions. Frailty, falls, functional decline and disability, cognitive impairment and depression are main geriatric syndromes and occurs in patients with impaired renal function more often than among general population. The causes of higher prevalence of those syndromes are not well known, but uremic environment and overall renal replacement therapy may have an important impact on its progress. The patient with geriatric syndrome require comprehensive treatment as well as physical rehabilitation, psychiatric cure and support in everyday activities.Herein below we would like to review recent literature regarding to particular features of main geriatric syndromes in a group of nephrological patients.

Gender differences in patients with obesity hypoventilation syndrome.

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BaHammam, Ahmed S; Pandi-Perumal, Seithikurippu R; Piper, Amanda; Bahammam, Salman A; Almeneessier, Aljohara S; Olaish, Awad H; Javaheri, Shahrokh

2016-08-01

The role of gender and menopause in obstructive sleep apnoea is well known; however, no study has reported the impact of gender on the clinical presentation and the nocturnal respiratory events in patients with obesity hypoventilation syndrome. Therefore, this study prospectively evaluated differences in the clinical characteristics of women and men with obesity hypoventilation syndrome in a large cohort of patients with obstructive sleep apnoea. During the study period, a total of 1973 patients were referred to the sleep clinic with clinical suspicion of obstructive sleep apnoea. All patients underwent overnight polysomnography, during which time spirometry, arterial blood samples and thyroid tests were routinely obtained. Among 1973 consecutive patients, 1693 (617 women) were diagnosed with obstructive sleep apnoea, among whom 144 suffered from obesity hypoventilation syndrome (96 women). The prevalence of obesity hypoventilation syndrome among women and men was 15.6% and 4.5%, respectively (P obesity hypoventilation syndrome were significantly older than men with obesity hypoventilation syndrome (61.5 ± 11.9 years versus 49.1 ± 12.5 years, P differences between genders regarding symptoms, body mass index, spirometric data or daytime PaCO2 , women with obesity hypoventilation syndrome suffered significantly more from hypertension, diabetes and hypothyroidism. The prevalence of obesity hypoventilation syndrome was higher in post-menopausal (21%) compared with pre-menopausal (5.3%) women (P obesity hypoventilation syndrome. In conclusion, this study reported that among subjects referred to the sleep disorders clinic for evaluation of obstructive sleep apnoea, obesity hypoventilation syndrome is more prevalent in women than men, and that women with obesity hypoventilation syndrome suffer from significantly more co-morbidities. Post-menopausal women with obstructive sleep apnoea have the highest prevalence of obesity hypoventilation syndrome. © 2016

[metabonomics research on coronary heart disease patients of phlegm turbidity syndrome and qi deficiency syndrome].

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Cheng, Peng; Chen, Ze-qi; Wang, Dong-sheng

2015-02-01

To study the correlation between Chinese medical types of coronary heart disease (CHD) [i.e., phlegm turbidity syndrome (PTS) and qi deficiency syndrome (QDS)] and their metabolites. Recruited were 65 CHD patients including 37 cases of PTS and 28 cases of QDS. Serum endogenous metabolites in the two syndrome types were determined by gas chromatograph-mass spectrometer-computer (GC/MS), and their differences between their metabolic profiles analyzed. More than 100 chromatographic peaks were totally scanned. Chromatograms obtained was matched with mass spectrum bank, and finally we got the category contribution value of 46 kinds of substances. Results of MCTree analysis showed patients of PTS and patients of QDS could be effectively distinguished. Compounds contributing to identify the two syndromes were sequenced as serine, valine, 2 hydroxy propionic acid. Comparison of metabolites showed contents of serine and 2 hydroxy propionic acid were higher in patients of PTS than in patients of QDS (Pmetabonomics of CHD TCM syndrome types could provide material bases for TCM syndrome differentiation of CHD, indicating that metabonomics technologies might become a new research method for TCM syndrome typing.

Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome

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Ali Al Kaissi

2013-01-01

Full Text Available Background A leptosomic body type is tall and thin with long hands. Marfanoid features may be familial in nature or pathological, as occurs in congenital contractual arachnodactyly (Beal's syndrome and Shprintzen-Goldberg syndrome mimicking some of the changes of Marfan syndrome, although not accompanied by luxation of lens and dissecting aneurysm of aorta. Methods In this article we collected eight patients who were consistent with the diagnosis of Marfan syndrome via phenotypic and genotypic characterization. Results Our patients manifested a constellation of variable presentations of musculo-skeletal abnormalities ranging from developmental dysplasia of the hip, protrusio acetabuli, leg length inequality, patellar instability, scoliosis, to early onset osteoarthritis. Each abnormality has been treated accordingly. Conclusion This is the first paper which includes the diagnosis and the management of the associated musculo-skeletal abnormalities in patients with Marfan syndrome, stressing that patients with Marfan syndrome are exhibiting great variability in the natural history and the severity of musculo-skeletal abnormalities.

Supernumerary teeth in non-syndromic patients

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Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh [Nair Hospital Dental College, Maharashtra (India)

2012-03-15

Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

BURNOUT SYNDROME IN PATIENTS WITH WORKPLACE HYPERTENSION

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Yu. P. Zinchenko

2016-01-01

Full Text Available Aim. To study the presence, severity and qualitative characteristics of «burnout syndrome» in patients with «workplace hypertension» (WPH, in comparison with patients with essential hypertension and healthy people.Material and methods. Untreated patients with hypertension stage II, degree 1-2 (n=170; age 32-52 years; mean age 46.7Ѓ}4.1 years were examined. Group 1 included 85 patients with WPH (mean age 44.7Ѓ}4.3 years and Group 2 included 85 patients without WPH (mean age 47.4Ѓ}4.5 years. The duration of hypertension on average was 7.2Ѓ}2.6 years and was comparable in both groups. The control group included 82 healthy subjects (mean age 44.9Ѓ}3.1 years. The Russian version of the Maslach Burnout Inventory (MBI was used to diagnose «burnout syndrome».Results. Signs of «burnout syndrome» were found in the hypertensive patients of both groups. The high and medium levels of the «burnout syndrome» severity according to all three analyzed factors (emotional exhaustion, dehumanization/depersonification, and personal achievements were found in 59% of WPH patients, in 36% of hypertensive patients without WPH, and in 9% of healthy individuals. Most of WPH patients had high emotional exhaustion compared with other groups (27.5Ѓ}3.67 points vs 24.6Ѓ}4.3 and 20.1Ѓ}5.7 points in group 2, and group of healthy, respectively; p<0.05. Hypertensive men rated themselves as less successful professionally in comparison with women. Hypertensive women were more prone to emotional exhaustion and dehumanization/depersonification in comparison with men. Conclusion. Signs of «burnout syndrome» were found significantly more often in hypertensive patients in both groups than in healthy people. Medium and high intensity of all forms of «burnout syndrome» occurred in patients with WPH in comparison with healthy people and hypertensive patients without WPH.

Hearing impairment in genotyped Wolfram syndrome patients.

NARCIS (Netherlands)

Plantinga, R.F.; Pennings, R.J.E.; Huygen, P.L.M.; Bruno, R.; Eller, P.; Barrett, T.G.; Vialettes, B.; Paquis-Fluklinger, V.; Lombardo, F.; Cremers, C.W.R.J.

2008-01-01

OBJECTIVES: Wolfram syndrome is a progressive neurodegenerative syndrome characterized by the features "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We sought to study the audiometric data of genotyped Wolfram syndrome patients with sensorineural hearing impairment.

Cotard Syndrome without Depressive Symptoms in a Schizophrenic Patient.

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Morgado, Pedro; Ribeiro, Ricardo; Cerqueira, João J

2015-01-01

Introduction. Cotard syndrome is a rare condition characterized by nihilistic delusions concerning body or life that can be found in several neuropsychiatry conditions. It is typically associated with depressive symptoms. Method. We present a case of Cotard syndrome without depressive symptoms in the context of known paranoid schizophrenia. A literature review of Cotard syndrome in schizophrenia was performed. Results. Although there are few descriptions of this syndrome in schizophrenia, patients usually present depressive mood and psychomotor retardation, features not seen in our patient. Loss of the sense of the inner self, present in schizophrenia, could explain patient's symptomatology but neurobiological bases of this syndrome remain unclear. Conclusion. Despite not being considered in actual classifications, Cotard syndrome is still relevant and psychiatric evaluation is critical to diagnosing and treating this condition in psychiatric patients.

[Characteristics of traditional Chinese medicine syndromes in patients with acute ischemic stroke of yin or yang syndrome: a multicenter trial].

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You, Jin-song; Huang, Yan; Cai, Ye-feng; Guo, Jian-wen; Liang, Wei-xiong; Huang, Pei-xin; Liu, Mao-cai

2008-04-01

To explore the composition characteristics of traditional Chinese medicine (TCM) syndromes in patients with acute ischemic stroke of yin or yang syndrome by investigating the characteristics of TCM syndromes at different periods after onset. One thousand two hundred and forty-six patients with acute ischemic stroke were admitted in twenty hospitals. According to the "diagnostic criteria of syndrome differentiation of stroke", the characteristics of syndromes in the patients were investigated at the periods of 1-3 days, 4-10 days and 11-30 days after they had ischemic stroke. General distribution of six basic syndromes was compared between the patients with yin syndrome and the patients with yang syndrome at the three periods. The six basic syndromes were wind syndrome, pathogenic fire syndrome, phlegm syndrome, blood stasis syndrome, qi deficiency syndrome, and syndrome of yin deficiency and yang hyperactivity. The percentages of wind, pathogenic fire, and phlegm syndromes in the patients were decreased at the period of 11-30 days as compared with the period of 1-3 days (87.1% vs 79.3%, 52.1% vs 38.7% and 67.1% vs 57.4% respectively, P0.05). There were no differences in the distribution of yin and yang syndromes among the three periods (P>0.05). The percentages of syndromes of wind, pathogenic fire, phlegm, and yin deficiency and yang hyperactivity were higher (Pfour or five syndromes were higher, and the percentages of single-syndromes and complex syndromes of two syndromes were lower in patients with yang syndrome than in patients with yin syndrome (P<0.05, P<0.01). The most frequent complex syndromes in patients with yin syndrome were complex syndrome of wind, phlegm, blood stasis and qi deficiency, and complex syndrome of wind, phlegm and qi deficiency; while the most frequent complex syndromes in patients with yang syndrome were complex syndrome of wind, pathogenic fire, phlegm and qi deficiency, and complex syndrome of wind, pathogenic fire and phlegm. The

Turner syndrome