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  1. NonClassic Congenital Adrenal Hyperplasia

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    Azziz Ricardo

    2010-05-01

    Full Text Available Nonclassic congenital adrenal hyperplasia (NCAH due to P450c21 (21-hydroxylase deficiency is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and "on-time" puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.

  2. Mistaken gender identity in non-classical congenital adrenal hyperplasia

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    Kukreti, Prerna; Kandpal, Manish; Jiloha, R.C.

    2014-01-01

    Gender identity is the sense of belonging that one feels for a particular sex psychologically and socially, independent of one's biological sex. There is much less systematic data on gender identity in females with congenital adrenal hyperplasia (CAH). We report a case of non-classical CAH presenting as a case of gender identity disorder.

  3. A case of androgen-secreting adrenal carcinoma with non-classical congenital adrenal hyperplasia

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    Tarun Varma

    2013-01-01

    Full Text Available Androgen excess is one of the most common and disturbing endocrine disorder of reproductive-aged women, affecting approximately 7% of this population Androgen excess results in the development of androgenic features in the women affected, with the development of hirsutism, androgenic alopecia, ovulatory dysfunction, and, if extreme, even virilization and masculinization. Adrenocortical carcinoma (ACC is a rare malignancy accounting for 0.02% of all annual cancers reported. About 60% are functional tumors secreting hormones, with its consequent clinical manifestations, the Cushing′s syndrome due to cortisone, virilization due to androgens, feminization due to estrogens, or hypertension due to aldosterone. Adrenal tumors that secrete androgens exclusively are extremely rare. Here, we present a rare case of androgen-secreting adrenocortical carcinoma with non-classical congenital adrenal hyperplasia.

  4. A case of androgen-secreting adrenal carcinoma with non-classical congenital adrenal hyperplasia.

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    Varma, Tarun; Panchani, Roopal; Goyal, Ashutosh; Maskey, Robin

    2013-10-01

    Androgen excess is one of the most common and disturbing endocrine disorder of reproductive-aged women, affecting approximately 7% of this population Androgen excess results in the development of androgenic features in the women affected, with the development of hirsutism, androgenic alopecia, ovulatory dysfunction, and, if extreme, even virilization and masculinization. Adrenocortical carcinoma (ACC) is a rare malignancy accounting for 0.02% of all annual cancers reported. About 60% are functional tumors secreting hormones, with its consequent clinical manifestations, the Cushing's syndrome due to cortisone, virilization due to androgens, feminization due to estrogens, or hypertension due to aldosterone. Adrenal tumors that secrete androgens exclusively are extremely rare. Here, we present a rare case of androgen-secreting adrenocortical carcinoma with non-classical congenital adrenal hyperplasia. PMID:24251173

  5. Pubertal development among girls with classical congenital adrenal hyperplasia initiated on treatment at different ages

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    Bindu Kulshreshtha

    2012-01-01

    Full Text Available Introduction: Children with congenital adrenal hyperplasia (CAH provide us an opportunity to study the clinical effects of androgen excess in humans. We studied the sequence of pubertal development in girls with congenital adrenal hyperplasia initiated on treatment at different ages, to assess the effects of androgen exposure on the Hypothalamic-Pituitary-Ovarian (HPO axis. Materials and Methods: Girls more than 18 years of age, with CAH, on follow-up at this hospital were the subjects for this study. Details of history, physical findings, laboratory evaluation, and medication were noted from their case records and verified from the patients and their / parents, in addition to assessment of their present health status. Result: We studied 24 patients of classical CAH (SW-2, SV-22, average age - 24.5 ± 6.6 years. All had varying degrees of genital ambiguity (Prader stage 3 (n = 13, Prader stage 2 (n = 10, Prader stage 1 (n = 1. Among them were13 girls, who were started on steroids after eight years of age. Girls who received treatment from infancy and early childhood had normal pubertal development (mean age at menarche 11.4 ± 1.7 years. Hirsutism was not a problem among them. Untreated children had progressive clitoral enlargement throughout childhood, developed pubic hair at around three to six years of age, and facial hair between nine and eleven years. Plasma testosterone ranged from 3 to 6 ng / ml prior to treatment. Six of the 13 untreated CAH girls had subtle breast development starting at ages 11 - 16 years and three had spontaneous infrequent vaginal bleeding starting at ages 11 - 17. Steroid supplementation initiated pubertal changes in older girls in two-to-six months′ time. Conclusion: There was a delay in HPO axis maturation (as evidenced by delayed pubertal development in the absence of treatment in girls with CAH. This could be corrected with steroid supplementation.

  6. Congenital adrenal hyperplasia

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    ... to treat congenital adrenal hyperplasia do not usually cause side effects such as obesity or weak bones, because the doses replace the hormones that the child's body cannot make. It is important for parents ...

  7. Gender change from female to male in classical congenital adrenal hyperplasia.

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    Meyer-Bahlburg, H F; Gruen, R S; New, M I; Bell, J J; Morishima, A; Shimshi, M; Bueno, Y; Vargas, I; Baker, S W

    1996-12-01

    The psychoendocrinology of the development of normal gender identity and its variations is poorly understood. Studies of gender development in individuals born with endocrinologically well-characterized intersex conditions are heuristically valuable for the disaggregation of factors that are acting in concert during normal development. Four 46,XX individuals with classical congenital adrenal hyperplasia (CAH) and atypical gender identity entered a comprehensive research protocol including systematic interviews and self-report inventories on gender role behavior and identity, sexual history, and psychiatric history. Some of the data on gender variables were compared to data from 12 CAH women with the salt-wasting variant (CAH-SW) with female gender identity. The four patients (ages 28, 35, 38, and 30 years) represented three different subtypes of classical early-onset CAH: 21-OH deficiency, simple virilizing (CAH-SV); 21-OH deficiency, salt-wasting (CAH-SW); and 11-beta-OH deficiency. Their medical histories were characterized by delay beyond infancy or lack of surgical feminization of the external genitalia and progressive virilization with inconsistent or absent glucocorticoid replacement therapy. Although three patients had undergone one or more genital surgeries, all had retained at least some orgasmic capacity. In regard to childhood gender-role behavior, the four gender-change patients tended to be more masculine or less feminine than (behaviorally masculinized) CAH-SW controls. All patients were sexually attracted to females only. The process of gender change was gradual and extended well into adulthood. The most plausible factors contributing to cross-gender identity development in these patients appeared to be neither a particular genotype or endocrinotype nor a sex-typing bias on the part of the parents but a combination of a gender-atypical behavioral self-image, a gender-atypical body image, and the development of erotic attraction to women. Implications

  8. Alternative Strategies for the Treatment of Classical Congenital Adrenal Hyperplasia: Pitfalls and Promises

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    Ali S. Calikoglu

    2010-01-01

    Full Text Available Despite decades of different treatment algorithms, the management of congenital adrenal hyperplasia (CAH remains clinically challenging. This is due to the inherent difficulty of suppressing adrenal androgen production using near physiological dosing of glucocorticoids (GC. As a result, alternating cycles of androgen versus GC excess can occur and may lead to short stature, obesity, virilization, and alterations in puberty. Novel therapeutic alternatives, including new and more physiological means of GC delivery, inhibitors at the level of CRH or ACTH secretion and/or action, as well as “rescue strategies”, such as GnRH analogs, anti-androgens, aromatase inhibitors, and estrogen receptor blockers, are available; many of these agents, however, still require active investigation in CAH. Bilateral adrenalectomy is effective but it is also still an experimental approach. Gene therapy and stem cells, to provide functional adrenal cortical tissue, are at preclinical stage but provide exciting avenues for a potential cure for CAH.

  9. Alternative Strategies for the Treatment of Classical Congenital Adrenal Hyperplasia: Pitfalls and Promises

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    Calikoglu AliS

    2010-06-01

    Full Text Available Despite decades of different treatment algorithms, the management of congenital adrenal hyperplasia (CAH remains clinically challenging. This is due to the inherent difficulty of suppressing adrenal androgen production using near physiological dosing of glucocorticoids (GC. As a result, alternating cycles of androgen versus GC excess can occur and may lead to short stature, obesity, virilization, and alterations in puberty. Novel therapeutic alternatives, including new and more physiological means of GC delivery, inhibitors at the level of CRH or ACTH secretion and/or action, as well as "rescue strategies", such as GnRH analogs, anti-androgens, aromatase inhibitors, and estrogen receptor blockers, are available; many of these agents, however, still require active investigation in CAH. Bilateral adrenalectomy is effective but it is also still an experimental approach. Gene therapy and stem cells, to provide functional adrenal cortical tissue, are at preclinical stage but provide exciting avenues for a potential cure for CAH.

  10. 150 years of congenital adrenal hyperplasia: translation and commentary of De Crecchio's classic paper from 1865.

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    Delle Piane, Luisa; Rinaudo, Paolo F; Miller, Walter L

    2015-04-01

    In 1865, Luigi De Crecchio, a Neapolitan pathologist, published a detailed autopsy description of Giuseppe Marzo, who lived as a man, had nearly-normal appearing male external genitalia, female internal reproductive organs, and massively enlarged adrenals. This report is widely cited as the first report of non-salt-losing congenital adrenal hyperplasia (CAH), but a complete English translation has not been available. Via interlibrary loan, we obtained the original volume containing De Crecchio's paper. The complete 39-page publication was translated by two reproductive endocrinologists (L.D.P. and P.F.R.) who are native speakers of Italian. A pediatric endocrinologist conversant with CAH (W.L.M.) summarizes and comments on De Crecchio's observations. Anatomically, the external genitalia were characterized by labio-scrotal fusion and a 10-cm curved phallus with hypospadias. Internally, the ovaries, tubes, and uterus were hypoplastic but otherwise normal, except that the uterus inserted into a utricle. The adrenals were massively enlarged, but this observation was dismissed as unimportant. De Crecchio's exposition of Marzo's life shows many of the issues affecting patients today: family ill-ease regarding genital ambiguity at birth, social pressure following reversed sex assignment in childhood, adult embarassment about genital appearance, difficulties with a legal sex assignment on a birth certificate, and substantial efforts to exhibit maleness to self and associates. De Crecchio was an astute observer who provides insight into both nineteenth-century endocrinology and continuing twenty-first-century difficulties in the care of patients with disordered sex development. PMID:25635623

  11. Nonclassic Congenital Adrenal Hyperplasia

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    Selma Feldman Witchel

    2010-01-01

    Full Text Available Nonclassic congenital adrenal hyperplasia (NCAH due to P450c21 (21-hydroxylase deficiency is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.

  12. Congenital adrenal hyperplasia: Case report.

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    Jaime Avaria E.

    2013-04-01

    Full Text Available INTRODUCTION: Congenital adrenal hyperplasia (CAH is an autosomal recessive disease whose main cause is the deficiency of 21-hydroxylase, an enzyme involved in the synthesis of cortisol and aldosterone. There are two forms of CAH, a classical and nonclassical form, being the first objective of analysis in the clinical case. Its clinical manifestations vary in severity, depending on the level of hormone deficiency. Within the classic is described the salt-wasting form, whose consequences are androgen excess and insufficiency of cortisol and mineralocorticoids. So this may manifest as a sex differentiation disorder (virilization of the external genitalia if the fetus is female and adrenal insufficiency. For diagnosis are considered the family history, clinical manifestations, measuring 17-hydroxyprogesterone levels and detection of genetic alteration. CASE REPORT: Patient with a family history of a brother with HSC brother, born with a disorder of sexual differentiation and is discharged with legal male sex. After three months develops adrenal insufficiency and was diagnosed with classical HSC salt-wasting form and determined female karyotype. DISCUSSION: The Pillars of the HSC are handling genetic counseling in families at risk, prenatal treatment with dexamethasone, postnatal glucocorticoid therapy and surgical treatment of disorders of the external genitalia, along with new research based therapy gene and the use of stem cells, requiring this way an integral view of HSC.

  13. Normal Ovarian Structure and Function with Normal Glucose Tolerance in Girls with Early Treatment of Classic Congenital Adrenal Hyperplasia

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    Fleischman, Amy; Paltiel, Harriet; Chow, Jeanne; Ringelheim, Julie; Gordon, Catherine M.

    2007-01-01

    Hyperandrogenism and hyperinsulinism have both been suggested as etiologic factors behind functional ovarian hyperandrogenism or polycystic ovary syndrome. Females with congenital adrenal hyperplasia provide a clinical model to evaluate the contribution of pre- and post-natal hyperandrogenism on ovarian structure and function.

  14. Successful pregnancy after the treatment of primary amenorrhea in a patient with non-classical congenital adrenal hyperplasia.

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    Purwana, Indri N; Kanasaki, Haruhiko; Oride, Aki; Miyazaki, Kohji

    2013-01-01

    We describe a case of non-classical congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency in a 30-year-old Japanese woman who achieved pregnancy after treatment of primary amenorrhea. Hirsutism and clitoromegaly were present. Ultrasound examination showed polycystic appearance of the ovary. Luteinizing hormone-releasing hormone (LH-RH) test resulted in exaggerated LH response, showing a polycystic ovary syndrome (PCOS) pattern. The diagnosis was based on the elevated intial levels of 17-hydroxyprogesterone (55 ng/mL) and dihydroepiandosterone (7780 ng/mL). The first withdrawal bleeding occurred within 6 weeks after treatment with hydrocortisone (20 mg/day) combined with conjugated estrogens (1.25 mg/day) and medroxyprogesterone acetate (10 mg/day), which were continued for five courses. The bleeding remained cyclic every 28 days with maintenance doses of hydrocortisone. Subsequently, ovulation was induced using clomiphene citrate (100 mg/day). Pregnancy was achieved at the second attempt of ovulation induction and was within 10 months after initial presentation. Continuing hydrocortisone, the patient delivered a healthy baby at term. PMID:22672538

  15. Correlation of biochemical markers and clinical signs of hyperandrogenism in women with polycystic ovary syndrome (PCOS) and women with non-classic congenital adrenal hyperplasia (NCAH)

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    Nana Kvashilava; Jenara Kristesashvili; Diana Chanukvadze

    2012-01-01

    Background: Polycystic ovary syndrome (PCOS) is the most common cause of hyperandrogenism in women. Non-classic congenital adrenal hyperplasia (NCAH) is very close to PCOS. The diagnosis of hyperandrogenism is not based on the finding of decreased or increased levels of a single hormone. Objective: In our paper, we are going to test correlation between clinical signs and biochemical markers of hyperandrogenism. Materials and Methods: In this prospective study, we calculated free testosterone ...

  16. Management of adolescents with congenital adrenal hyperplasia

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    Merke, Deborah P.; Poppas, Dix P.

    2013-01-01

    The management of congenital adrenal hyperplasia involves suppression of adrenal androgen production, in addition to treatment of adrenal insufficiency. Management of adolescents with congenital adrenal hyperplasia is especially challenging because changes in the hormonal milieu during puberty can lead to inadequate suppression of adrenal androgens, psychosocial issues often affect adherence to medical therapy, and sexual function plays a major part in adolescence and young adulthood. For the...

  17. The Effect of Simvastatin on Plasma Steroid Hormone Levels in Metformin-Treated Women with Non-Classic Congenital Adrenal Hyperplasia.

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    Krysiak, R; Kowalcze, K; Bednarska-Czerwińska, A; Okopień, B

    2016-04-01

    Non-classic congenital adrenal hyperplasia (NC-CAH), one of the most common genetic disorders, is often associated with the presence of hyperandrogenism. Recently both simvastatin and metformin were found to reduce plasma steroid hormone levels in this disorder. This study included 8 women with NC-CAH and diabetes or impaired glucose tolerance, as well as 12 matched women with similar glucose metabolism abnormalities but normal adrenal function. Both groups of women, receiving metformin for at least 6 months, were then treated with simvastatin (20 mg daily) for the following 12 weeks. Compared to patients with normal adrenal function, metformin-treated women with NC-CAH showed increased plasma levels of 17-hydroxyprogesterone, total testosterone, free testosterone, androstenedione and DHEA-S. Simvastatin reduced total and LDL cholesterol levels in both patients with NC-CAH and normal adrenal function. Moreover, in the former group of women, statin therapy decreased plasma levels of testosterone, free testosterone, androstenedione, dehydroepiandrosterone sulphate and tended to reduce 17-hydroxyprogesterone. Our results suggest that metformin-statin combination therapy may be useful in the management of symptomatic women with NC-CAH. PMID:26824284

  18. Blood Pressure and Left Ventricular Characteristics in Young Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

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    Ubertini Graziamaria

    2010-01-01

    Full Text Available High steroid doses are often necessary in congenital adrenal hyperplasia (CAH to suppress androgens and may increase blood pressure (BP. We evaluated 24-hour BP profile (ambBP, BP during exercise (excBP, and echocardiography in 20 young CAH patients. Systolic and diastolic BP during ambBP and excBP was normal in all patients. None presented myocardial hypertrophy. Nocturnal diastolic BP was affected by testosterone (: .016, 95% CI: 0.002 to 0.021, = 0.01. Left ventricular mass (LVM was affected by height SDS (: .007, 95% CI: 2.67 to 14.17, = 8.42, age (: , 95% CI: 2.12 to 5.82, = 3.97, and testosterone (: .008, 95% CI: 0.01 to 0.09, = 0.053. Left ventricular mass index (LVMI correlated with BMI SDS (: .044, 95% CI: 0.09 to 6.17, = 3.13 and testosterone (: .031, 95% CI: 0.002 to 0.035, = 0.018. Hydrocortisone dose did not influence ambBP, excBP, or myocardial hypertrophy.

  19. Testicular adrenal rest tumours in congenital adrenal hyperplasia

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    Claahsen-van der Grinten, H.L.; Hermus, A.R.M.M.; Otten, B.J.

    2009-01-01

    In adult patients with congenital adrenal hyperplasia (CAH), the presence of testicular adrenal rest tumours (TART) is an important complication leading to gonadal dysfunction and infertility. These tumours can be already found in childhood and puberty. In this paper, we review the embryological, hi

  20. Salivary morning androstenedione and 17alpha-OH progesterone levels in childhood and puberty in patients with classic congenital adrenal hyperplasia

    NARCIS (Netherlands)

    Groot, M.J. de; Pijnenburg-Kleizen, K.J.; Thomas, C.M.G.; Sweep, F.C.; Stikkelbroeck, N.; Otten, B.J.; Claahsen-van der Grinten, H.L.

    2015-01-01

    BACKGROUND: Treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency can be monitored by salivary androstenedione (A-dione) and 17alpha-hydroxyprogesterone (17OHP) levels. There are no objective criteria for setting relevant target values or data on changes of 17OHP and A-dione d

  1. Puberty and fertility in congenital adrenal hyperplasia.

    NARCIS (Netherlands)

    Otten, B.J.; Stikkelbroeck, M.M.L.; Claahsen-van der Grinten, H.L.; Hermus, A.R.M.M.

    2005-01-01

    Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. The symptoms and signs of CAH depend on the degree of enzyme deficiency; severe salt-wasting (SW) form, less severe simple virilizing (SV) form and mild nonclassic (NC) form. In this paper, puberty and fertility in CAH

  2. A success story in congenital adrenal hyperplasia.

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    Kriplani, Alka; Lunkad, Amol; Agarwal, Nutan; Kulshreshtha, Bindu; Ariachery, C Aminni

    2012-12-01

    Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by enzyme defects in adrenal steroidogenic pathways. CAH due to 21-hydroxylase deficiency accounts for 95 % of cases. This case was diagnosed to have simple virilizing type of CAH and started on dexamethasone, and underwent genitoplasty and clitoroplasty at 25 years of age, then was married 3 years after surgery and conceived spontaneously 2 years after marriage, to deliver a healthy male baby. Thus, proper diagnosis and treatment with steroids and genitoplasty can give females with CAH a normal sexual, normal menstrual, and reproductive function.

  3. Clinical, chromosomal and endocrine studies for congenital adrenal hyperplasia

    International Nuclear Information System (INIS)

    Severe forms of congenital adrenal hyperplasia are potentially fatal if unrecognized and untreated. The aim of this study was to clarify the clinical presentation together with the chromosomal and laboratory associations in this syndrome. Twenty four patients diagnosed as congenital adrenal hyperplasia were referred from Children's Hospital, Cairo University, Egypt, for hormonal and chromosomal workup. The age ranged from eight months to 19 years with mean age of 3.18 years. Twenty two patients were diagnosed as classic congenital adrenal hyperplasia (CAH) syndrome. Severe salt wasting form was present in ten patients whereas simple virilisation was the presenting manifestation in twelve patients. Two patients presented as late onset congenital adrenal hyperplasia (LOCAH). The sex of rearing was female in 18 cases and male in six cases. Genitography and sonography confirmed the presence of female internal organs in all cases. Advanced bone age was evident by radiographic studies. Although the karyotyping was 46,XX in all cases, the diagnosed correct sex was delayed in six cases. Serum concentrations of 17-hydroxyprogesterone (17.OH.P), dehydroepiandrosterone sulfate (DHEAS), delta, 4-androstenedione (D4A), testosterone (T) and 11-deoxycortisol were all elevated as compared to controls. It was found that the adrenal androgens DHEAS, D4A and T were more elevated in salt losers when compared to simple virilising patients. However, this difference was statistically non-significant. The present study demonstrates that the clinical examination and laboratory investigations are necessary for the early detection and treatment of these cases to avoid major medical and psychological problems for the patients and their parents

  4. Clinical, Chromosomal and Endocrine Studies for Congenital Adrenal Hyperplasia

    International Nuclear Information System (INIS)

    Several forms of congenital adrenal hyperplasia are potentially fatal if unrecognized and untreated. The aim of this study is to throw light on the clinical presentation together with chromosomal and laboratory associations in this syndrome. Twenty four patients diagnosed as congenital adrenal hyperplasia were referred from the Diabetic Endocrine Metabolic Pediatric Unit [DEMPU], Children's Hospital, Cairo University for hormonal and chromosomal workup. Twenty two patients were diagnosed as classic congenital adrenal hyperplasia (CAH) syndrome. Sever salt wasting form was present in ten patients whereas simple virilization was the presenting manifestation in twelve patients. Two patients presented as late onset congenital adrenal hyperplasia (LOCAH). The mean age was 3.18 years, ranging from eight months to 19 years. The sex of rearing was Female in 18 cases and male in six cases. Genitography and sonography confirmed the presence of female internal organs in all cases. Advanced bone age was evident by radiographic studies. Although the karyotyping was (46,XX) in all cases, the correct sex diagnosis was delayed in 6 cases. Serum concentrations of 17-hydroxyprogesterone (17.OH.P); Dehydroepiandrosterone sulfate (DHEAS); Delta,4-androstenedione (D 4 A); Testosterone and 11-deoxycortisol were all elevated in relation to controls. We found that the adrenal androgens DHEAS, delta 4A, and T were more elevated in salt losers when compared to simple virilizing patients. However, this difference was not of statistical significance. The present study demonstrates that clinical examination and laboratory investigations are necessary for early detection and treatment of hese cases to avoid major medical and psychological problems for the patients and their parents.

  5. Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia

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    Jennifer L. Flint

    2013-01-01

    Full Text Available We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC whose presentation and laboratory abnormalities were consistent with the more common condition, congenital adrenal hyperplasia (CAH. The patient presented with failure to thrive and salt wasting. General appearance showed marked hyperpigmentation and normal male genitalia. He displayed mildly elevated 17-hydroxyprogesterone and markedly elevated 11-deoxycortisol levels at baseline and with ACTH stimulation testing. Results were consistent with 11β-hydroxylase deficiency. He required glucocorticoids and high doses of mineralocorticoids. The marked elevation in 11-deoxycortisol directed our clinical reasoning away from a hypoplastic condition and towards a hyperplasic adrenal condition. Sequencing of the DAX1 gene (named for dosage-sensitive sex reversal (DSS locus and the AHC locus on the X chromosome revealed a missense mutation. A review of the literature revealed that elevated 11-deoxycortisol levels have been noted in kindreds with DAX1 mutations, but only when measured very early in life. A mouse model has recently been described that displays elevated 11-deoxycorticosterone levels and evidence for hyperplasia of the zona glomerulosa of the adrenal gland. We conclude that DAX1 testing may be considered in patients with laboratory evidence of 11β-hydroxylase deficiency, especially in those with severe salt wasting.

  6. A case of congenital lipoid adrenal hyperplasia

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    Mahin Hashemipour

    2012-01-01

    Full Text Available Lipoid congenital adrenal hyperplasia (lipoid CAH, a rare disorder of steroid biosynthesis, is the most severe form of CAH. In this disorder the synthesis of glucocorticoids, mineralocorticoids and sex steroids is impaired which result in adrenal failure, severe salt wasting crisis and hyperpigmentation in phenotypical female infants irrespective of genetic sex. In this report, we presented a 28-day-old phenotypic female infant, which referred with lethargy, failure to thrive and electrolyte abnormalities. Considering the clinical and biochemical findings, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid and mineralocorticoid and sodium chloride was initiated. During follow-up, she had good clinical condition, but at 6 years of age, she refers with hypertension and adrenal insufficiency because of arbitrary drug discontinuation by mother. In ultrasonography an abdominal mass (the testicles was reported. Chromosome study showed 46XY pattern. Orchiectomy was performed. We recommended that in cases with clinical presentation of adrenal insufficiency if there is not the facility to determine the karyotype, repeated ultrasonography perform during follow-up. In addition, investigating the genetic bases of the disorder would help us to determine the pathogenesis of lipoid CAH in our community. It would be helpful in prenatal diagnosis and treatment of the disorder to prevent its related comorbidities.

  7. Radiological findings of congenital lipoid adrenal hyperplasia: a case report

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    Kim, Mi Jeong; Shin, Joo Yong; Lee, Hee Jung; Lee, Jin Hee; Sohn, Cheol Ho; Lee, Sung Moon; Kim, Hong; Woo, Seong Ku; Suh, Soo Ji [Keimyung Univ. School of Medicine, Taegu (Korea, Republic of)

    2001-05-01

    Congenital lipoid adrenal hyperplasia (CLAH) is a rare autosomal recessive disorder characterized by the marked accumulation of lipids and cholesterol in the adrenal cortex, and the failure of adrenal steroids to synthesise. We report the ultrasound (US), computed tomographic (CT), and magnetic resonance (MR) imaging findings in a four-day-old female neonate with CLAH.

  8. Early Hormonal Influences on Cognitive Functioning in Congenital Adrenal Hyperplasia.

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    Resnick, Susan M.; And Others

    1986-01-01

    Reports the results of cognitive test performance and early childhood activities in individuals with congenital adrenal hyperplasia, an autosomal recessive disorder associated with elevated prenatal adrenal androgen levels, demonstrating the effects of early exposure to excess androgenizing hormones on sexually dimorphic cognitive functioning.…

  9. Amygdala Function In Adolescents With Congenital Adrenal Hyperplasia: A Model For The Study Of Early Steroid Abnormalities

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    Ernst, Monique; Maheu, Françoise S.; Schroth, Elizabeth; Hardin, Julie; Golan, Liza Green; Cameron, Jennifer; Allen, Rachel; Holzer, Stuart; Nelson, Eric; Pine, Daniel S.; Merke, Deborah P.

    2007-01-01

    Early disruption of steroids affects the development of mammalian neural circuits underlying affective processes. In humans, patients with classic Congenital Adrenal Hyperplasia (CAH) can serve as a natural model to study early hormonal alterations on functional brain development. CAH is characterized by congenital glucocorticoid insufficiency, leading to altered hypothalamic-pituitary-adrenal (HPA) function, and hyperandrogenism. Using fMRI, we compared fourteen adolescents with CAH to 14 he...

  10. Management considerations for the adult with congenital adrenal hyperplasia.

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    Auchus, Richard J

    2015-06-15

    The congenital adrenal hyperplasias (CAH) are a group of genetic defects in cortisol biosynthesis, most commonly steroid 21-hydroxylase deficiency (21OHD). With the advent of cortisone therapy in the 1960s and newborn screening in the 1990s, most children with 21OHD now reach adulthood. The needs and concerns of adults with 21OHD overlap with those of children, but the focus and approach shift as these patients reach adulthood. Cohort studies suggest that adults with 21OHD experience significant health concerns such as infertility, obesity, short stature, neoplasia, and bone loss, as well as reduced quality of life. Nevertheless, the spectrum of health status and disease severity is broad, but only some of the reasons for these disparities are known. This review will summarize the current state of knowledge and suggested approaches to management adults with classic 21OHD, plus a few major considerations for adults with nonclassic 21OHD.

  11. Ovarian adrenal rest tissue in congenital adrenal hyperplasia--a patient report.

    NARCIS (Netherlands)

    Claahsen-van der Grinten, H.L.; Hulsbergen- van de Kaa, C.A.; Otten, B.J.

    2006-01-01

    We report a young girl who died in an Addisonian crisis due to previously undiagnosed congenital adrenal hyperplasia (CAH), in whom ovarian adrenal rest tissue was detected at postmortem histopathological examination. This is a very rare complication in female patients with CAH with only two previou

  12. Impact of molecular genetics on congenital adrenal hyperplasia management.

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    Balsamo, A; Baldazzi, L; Menabò, S; Cicognani, A

    2010-09-01

    Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutations in genes encoding the enzymes involved in one of the 5 steps of adrenal steroid synthesis or the electron donor P450 oxidoreductase (POR) enzyme. Steroid 21-hydroxylase deficiency (21-OHD), the principal focus of this review, accounts for about 90-95% of all CAH cases, and its biochemical and clinical severity depends on the underlying CYP21A2 gene disruption. Molecular genetic advancements have been achieved in recent years, and the aim of this review is to attempt to highlight its contribution to the comprehension and management of the disease. When possible, we will try to achieve this goal also by providing some results from our personal experience regarding: some aspects of CYP21A2 gene analysis, with basic genotype/phenotype relationships; its crucial role in both genetic counselling and in prenatal diagnosis and treatment in families at risk for 21-OHD; its help in the comprehension of the severity of the disease in patients diagnosed by neonatal screening and possibly treated before an evident salt-loss crisis or before performing adequate blood sampling; its usefulness in the definition of post ACTH 17-hydroxyprogesterone values, discriminating between non-classic, heterozygote and normal subjects; and finally the contribution of genes other than CYP21A2 whose function or dysfunction could influence 21-hydroxylase activity and modify the presentation or management of the disease.

  13. Ultrasound follow up of testicular adrenal rest tumors with congenital adrenal hyperplasia: Report of three cases

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Jeong Yeon; Kim, Dong Won; Yoon, Seong Kuk; Nam, Kyung Jin [Dept. of Radiology, Dong-A University Hospital, Busan (Korea, Republic of)

    2014-12-15

    While testicular adrenal rest tumor is generally a rare intratesticular tumor, it is frequent in patients with congenital adrenal hyperplasia. The tumors are diagnosed and followed up by ultrasound examination because these tumors are non-palpable and symptomless in most cases and always benign. Ultrasound imaging features change depending on how congenital adrenal hyperplasia is controlled. We herein report three cases of testicular adrenal rest tumors with different usual and unusual imaging findings and follow-up imaging. Patient 1 was a 14-year-old boy who presented with poor compliance to medication. Patient 2 and 3 were a 10-year-old and 13-year-old boy who presented with precocious puberty and short stature, respectively. Ultrasound examinations demonstrated oval hypoechoic masses and irregular speculated hyperechoic masses in the testes and different serial imaging findings.

  14. Congenital adrenal hyperplasia with localized aggressive periodontitis and amelogenesis imperfecta.

    Science.gov (United States)

    Ajlan, Sumaiah Abdulbaqi

    2015-11-01

    Congenital adrenal hyperplasia (CAH) is an inherited medical condition that implies defects in steroid biosynthesis. The dental findings of a female patient with CAH are reported. The patient suffered from severe periodontal tissue destruction, obvious enamel defects, as well as some occlusal problems. The management approach is presented and the possibility of interrelation of her dental findings with her medical condition is discussed.

  15. What Are the Treatments for Congenital Adrenal Hyperplasia (CAH)?

    Science.gov (United States)

    ... for congenital adrenal hyperplasia (CAH)? Skip sharing on social media links Share this: Page Content Treatments for CAH ... medically stable, Parents are fully informed of the risks and benefits, ... find a psychologist, social worker, or other mental health professional to support ...

  16. The role of imaging in congenital adrenal hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    Teixeira, Sara Reis; Andrade, Marco Tulio Soares; Melo, Andrea Farias; Elias Junior, Jorge, E-mail: jejunior@fmrp.usp.br [Department of Internal Medicine, Division of Radiology, Clinical Hospital, Ribeirao Preto Medical School, University of Sao Paulo (FMRP-USP), Ribeirao Preto, SP (Brazil); Elias, Paula Condé Lamparelli [Department of Internal Medicine, Division of Endocrinology, Clinical Hospital, FMRP-USP, Ribeirao Preto, SP (Brazil)

    2014-10-15

    Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adrenal tumors. The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. Follow-up is mainly based on hormonal and clinical evaluation. Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging. (author)

  17. The next 150 years of congenital adrenal hyperplasia.

    Science.gov (United States)

    Turcu, Adina F; Auchus, Richard J

    2015-09-01

    Congenital adrenal hyperplasias (CAH) are a group of autosomal recessive defects in cortisol biosynthesis. Substantial progress has been made since the description of the first report, 150 years ago. This article reviews some of the recent advances in the genetics, diagnosis and treatment of CAH. In addition, we underline the aspects where further progress is required, including, among others, better diagnostic modalities for the mild phenotype and for some of the rare forms of disease, elucidation of epigenetic factors that lead to different phenotypes in patients with identical genotype and expending on treatment options for controlling the adrenal androgen excess. PMID:26047556

  18. Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report

    Directory of Open Access Journals (Sweden)

    Ferreira Florbela

    2013-02-01

    Full Text Available Abstract Introduction We report the case of a patient with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency who presented with unusual anatomical and biochemical features, namely massively enlarged adrenal glands, adrenogenital rest tissue and an unexpected endocrine profile. The contribution of the adrenocortical cells in the adrenals and testicles was determined by a cosyntropin stimulation test before and after adrenalectomy. To the best of our knowledge this is the first report of such a case in the literature. Case presentation A 35-year-old Caucasian man was admitted to the emergency room with an Addisonian crisis. He had been diagnosed with congenital adrenal hyperplasia in the neonatal period. He acknowledged poor adherence to treatment and irregular medical assistance. Physical examination revealed marked cutaneous and gingival hyperpigmentation, hypotension, and hard nodules in the upper pole of both testicles. Blood analysis showed mild anemia and hyponatremia and no evidence of acute infection. Endocrine evaluation showed very low cortisol levels, low dehydroepiandrosterone-sulfate and elevated corticotropin, 11-deoxycortisol and delta-4-androstenedione. The concentration of 17-hydroxyprogesterone was 20,400ng/dL. After the cosyntropin stimulation test the pattern was similar and there was no significant increase in cortisol or 17-hydroxyprogesterone. The abdominal computed tomography scan revealed grossly enlarged and heterogeneous adrenal glands (left, 12cm; and right, six cm. A bilateral adrenalectomy was performed and pathologic examination revealed adrenal myelolipomas with nodular cortical hyperplasia. The sonogram showed bilateral heterogeneous masses on the upper pole of both testes which corresponded to the nodular hyperplasia of adrenal rest tissues. The genetic study revealed compound heterozigoty (mutations R124H and R356W, suggestive of a phenotypically moderate disease. We performed a

  19. Prenatal treatment of congenital adrenal hyperplasia: risks outweigh benefits.

    Science.gov (United States)

    Miller, Walter L; Witchel, Selma Feldman

    2013-05-01

    Prenatal treatment of congenital adrenal hyperplasia by administering dexamethasone to a woman presumed to be carrying an at-risk fetus has been described as safe and effective in several reports. A review of data from animal experimentation and human trials indicates that first-trimester dexamethasone decreases birthweight; affects renal, pancreatic beta cell, and brain development; increases anxiety; and predisposes to adult hypertension and hyperglycemia. In human studies, first-trimester dexamethasone is associated with orofacial clefts, decreased birthweight, poorer verbal working memory, and poorer self-perception of scholastic and social competence. Numerous medical societies have cautioned that prenatal treatment of congenital adrenal hyperplasia with dexamethasone should only be done in prospective clinical research settings with institutional review board approval, and therefore is not appropriate for routine community practice. PMID:23123167

  20. A Rare Combination: Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency and Turner Syndrome

    OpenAIRE

    Peltek Kendirci, Havva Nur; Aycan, Zehra; Çetinkaya, Semra; Baş, Veysel Nijat; Ağladıoğlu, Sebahat Yılmaz; Önder, Aşan

    2012-01-01

    A combination of Turner syndrome (TS) and classical congenital adrenal hyperplasia (CAH) is rare. A one-day-old newborn was referred to our hospital with ambiguous genitalia. The parents were third-degree relatives. The infant’s weight was 3350g (50-75p), and the head circumference was 34.5cm (50p). The gonads were nonpalpable. Presence of a 3 cm phallus, one urogenital opening into the perineum, and incomplete labial fusion were identified. Laboratory tests revealed a classical type of CAH d...

  1. Congenital adrenal hyperplasia, CYP21 deficiency, screening and clinical aspects

    OpenAIRE

    Nordenström, Anna

    2001-01-01

    Congenital adrenal hyperplasia (CAH) is a group of recessively inherited disorders. More than 90% of all cases of CAB are caused by 21-hydroxylase deficiency. This enzyme deficiency results in reduced ability to synthesize cortisol and aldosterone and at the same time increased secretion of androgens. There is a wide spectrum of severity of the disease. The most severe forms of CAH are life-threatening, with the risk of a salt crisis in the neonatal period. CAH has special i...

  2. Congenital Adrenal Hyperplasia: Classification of Studies Employing Psychological Endpoints

    OpenAIRE

    Stout, Stephanie A.; Margarita Litvak; Robbins, Natashia M.; Sandberg, David E

    2010-01-01

    Psychological outcomes in persons with congenital adrenal hyperplasia (CAH) have received substantial attention. The objectives of this paper were to (1) catalog psychological endpoints assessed in CAH outcome studies and (2) classify the conceptual/theoretical model shaping the research design and interpretation of CAH-related psychological effects. A total of 98 original research studies, published between 1955 and 2009, were categorized based on psychological endpoints examined as well as ...

  3. Congenital Adrenal Hyperplasia: Classification of Studies Employing Psychological Endpoints

    OpenAIRE

    Sandberg DavidE; Robbins NatashiaM; Litvak Margarita; Stout StephanieA

    2010-01-01

    Psychological outcomes in persons with congenital adrenal hyperplasia (CAH) have received substantial attention. The objectives of this paper were to (1) catalog psychological endpoints assessed in CAH outcome studies and (2) classify the conceptual/theoretical model shaping the research design and interpretation of CAH-related psychological effects. A total of 98 original research studies, published between 1955 and 2009, were categorized based on psychological endpoints examined as well as...

  4. Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome

    OpenAIRE

    Mishra, Vineet V; Kumari Pritti; Rohina Aggarwal; Sumesh Choudhary

    2015-01-01

    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 dur...

  5. Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency

    Directory of Open Access Journals (Sweden)

    Mouna Feki Mnif

    2013-01-01

    Full Text Available Fertility in women with congenital adrenal hyperplasia (CAH due to 21-hydroxylase deficiency (21-OHD appears to be reduced, especially in women with the classic salt-wasting type. Several factors have been suggested to contribute to this subfertility such as androgen excess, adrenal progesterone hypersecretion, consequences of genital reconstructive surgery, secondary polycystic ovaries syndrome, and psychosexual factors. In contrast to this subfertility, pregnancies are commonly normal and uneventful. Adequate glucocorticoid therapy and improvement of surgical and psychological management could contribute to optimize fertility in CAH female patients, even among women with the classic variant. This review provides current information regarding the reproductive outcomes of women with CAH due to 21-OHD and the fertility and pregnancy issues in this population.

  6. Newborn screening for congenital adrenal hyperplasia in New York State

    Directory of Open Access Journals (Sweden)

    Melissa Pearce

    2016-06-01

    Full Text Available From 2007 to 2014 the New York State (NYS Newborn Screening (NBS program screened 2 million newborns for congenital adrenal hyperplasia (CAH. The data was analyzed to determine factors that affect 17α-hydroxyprogesterone levels and assist in developing algorithm changes that would improve the positive predictive value of the methodology being used. The concentration of 17-OHP in dried blood spots was measured using the AutoDELFIA Neonatal 17-OHP kit (Perkin Elmer, Turku, Finland. During the 8 year period of this study 2476 babies were referred, 105 babies were diagnosed with CAH (90 with the salt-wasting (SW, 8 with simple virilizing (SV, 5 with non-classical CAH, and 2 with another enzyme deficiency and, 14 with possible CAH. Three false negative cases with SV-CAH were reported to the program. Of the total 108 known cases, 74 (69% infants were detected by newborn screening in the absence of clinical information, or, known family history. The incidence of CAH in NYS is 1 in 18,170 with a ratio of SW to SV of 8.2:1. The incidence of CAH is lower in Black infants than in White, Hispanic and Asian infants. Despite a lower mean birth weight, female infants have a lower mean 17-OHP value than male infants and are under-represented in the referred category. As per other NBS programs the false positive rate is exacerbated by prematurity/low birth weight and by over-early specimen collection.

  7. Newborn screening for congenital adrenal hyperplasia in New York State.

    Science.gov (United States)

    Pearce, Melissa; DeMartino, Lenore; McMahon, Rebecca; Hamel, Rhonda; Maloney, Breanne; Stansfield, Daniele-Marisa; McGrath, Emily C; Occhionero, Amanda; Gearhart, Adam; Caggana, Michele; Tavakoli, Norma P

    2016-06-01

    From 2007 to 2014 the New York State (NYS) Newborn Screening (NBS) program screened 2 million newborns for congenital adrenal hyperplasia (CAH). The data was analyzed to determine factors that affect 17α-hydroxyprogesterone levels and assist in developing algorithm changes that would improve the positive predictive value of the methodology being used. The concentration of 17-OHP in dried blood spots was measured using the AutoDELFIA Neonatal 17-OHP kit (Perkin Elmer, Turku, Finland). During the 8 year period of this study 2476 babies were referred, 105 babies were diagnosed with CAH (90 with the salt-wasting (SW), 8 with simple virilizing (SV), 5 with non-classical CAH, and 2 with another enzyme deficiency) and, 14 with possible CAH. Three false negative cases with SV-CAH were reported to the program. Of the total 108 known cases, 74 (69%) infants were detected by newborn screening in the absence of clinical information, or, known family history. The incidence of CAH in NYS is 1 in 18,170 with a ratio of SW to SV of 8.2:1. The incidence of CAH is lower in Black infants than in White, Hispanic and Asian infants. Despite a lower mean birth weight, female infants have a lower mean 17-OHP value than male infants and are under-represented in the referred category. As per other NBS programs the false positive rate is exacerbated by prematurity/low birth weight and by over-early specimen collection. PMID:27331001

  8. A Case of Congenital Adrenal Hyperplasia Mimicking Cushing's Syndrome

    Science.gov (United States)

    Kim, Hye Jeong; Kang, Mira; Kim, Jae Hyeon; Kim, Sun Wook; Chung, Jae Hoon; Min, Yong-Ki; Lee, Moon-Kyu; Kim, Kwang-Won

    2012-01-01

    Congenital adrenal hyperplasia (CAH) is characterized by decreased adrenal hormone production due to enzymatic defects and subsequent rise of adrenocorticotrophic hormone that stimulates the adrenal cortex to become hyperplastic, and sometimes tumorous. As the pathophysiology is basically a defect in the biosynthesis of cortisol, one may not consider CAH in patients with hypercortisolism. We report a case of a 41-yr-old man with a 4 cm-sized left adrenal tumorous lesion mimicking Cushing's syndrome who was diagnosed with CAH. He had central obesity and acanthosis nigricans involving the axillae together with elevated 24-hr urine cortisol level, supporting the diagnosis of Cushing's syndrome. However, the 24-hr urine cortisol was suppressed by 95% with the low dose dexamethasone suppression test. CAH was suspected based on the history of precocious puberty, short stature and a profound suppression of cortisol production by dexamethasone. CAH was confirmed by a remarkably increased level of serum 17-hydroxyprogesterone level. Gene mutation analysis revealed a compound heterozygote mutation of CYP21A2 (I173N and R357W). PMID:23166432

  9. Fetal endocrine therapy for congenital adrenal hyperplasia should not be done.

    Science.gov (United States)

    Miller, Walter L

    2015-06-01

    Prenatal treatment of congenital adrenal hyperplasia by administering dexamethasone to a woman presumed to be carrying an at-risk fetus remains a controversial experimental treatment. Review of data from animal experimentation and human trials indicates that dexamethasone cannot be considered safe for the fetus. In animals, prenatal dexamethasone decreases birth weight, affects renal, pancreatic beta cell and brain development, increases anxiety and predisposes to adult hypertension and hyperglycemia. In human studies, prenatal dexamethasone is associated with orofacial clefts, decreased birth weight, poorer verbal working memory, and poorer self-perception of scholastic and social competence. Numerous medical societies have cautioned that prenatal treatment of adrenal hyperplasia with dexamethasone is not appropriate for routine clinical practice and should only be done in Institutional Review Board approved, prospective clinical research settings with written informed consent. The data indicate that this treatment is inconsistent with the classic medical ethical maxim to 'first do no harm'. PMID:26051303

  10. Testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia: evaluation of pituitary-gonadal function before and after successful testis-sparing surgery in eight patients.

    NARCIS (Netherlands)

    Claahsen-van der Grinten, H.L.; Otten, B.J.; Takahashi, S.; Meuleman, E.J.H.; Hulsbergen- van de Kaa, C.A.; Sweep, C.G.J.; Hermus, A.R.M.M.

    2007-01-01

    CONTEXT: In male patients with congenital adrenal hyperplasia (CAH), testicular adrenal rest tumors (TART) are frequently present. These tumors can interfere with testicular function. Intensifying glucocorticoid therapy does not always lead to tumor regression and improvement of testicular function.

  11. Testicular adrenal rest tumors in a patient with untreated congenital adrenal hyperplasia

    Directory of Open Access Journals (Sweden)

    Hye Young Jin

    2011-03-01

    Full Text Available Testicular adrenal rest tumors (TARTs are considered to be formed from aberrant adrenal tissue that has become hyperplastic because of elevated adrenocorticotropic hormone (ACTH in male patients with congenital adrenal hyperplasia (CAH. A 6-year-old boy presented with testicular enlargement and pubic hair. He was diagnosed with CAH complicated by precocious puberty. However, he was not followed-up. At the age of 17, he visited the outpatient clinic because of testicular enlargement and short stature. His right and left testicles were 10×6 cm and 7.5×4.5 cm, respectively. His height was 155.1 cm (standard deviation score [SDS], -2.90. The diagnosis of CAH due to 21 hydroxylase deficiency was confirmed by mutation analysis of CYP21A2. Histological examination of the testes showed large, polygonal, eosinophilic cells with round nuclei and prominent nucleoli, which were suggestive of TARTs. He was treated with dexamethasone for 3 weeks and tumors regressed. Subsequently, dexamethasone was replaced by prednisolone and 9?#7014;ludrocortisone; thereafter, the reduced testis size has been maintained.

  12. Nonclassical congenital adrenal hyperplasia: targets of treatment and transition.

    Science.gov (United States)

    McCann-Crosby, Bonnie; Chen, Min-Jye; Lyons, Sarah K; Lin, Yuezhen; Axelrad, Marni; Dietrich, Jennifer E; Sutton, V Reid; Macias, Charles G; Gunn, Sheila; Karaviti, Lefkothea

    2014-12-01

    Nonclassical congenital adrenal hyperplasia (NCCAH) caused by 21-hydroxylase deficiency is a common autosomal recessive condition that can present with a wide range of hyperandrogenemic signs in childhood or adulthood. The management of children with NCCAH can be challenging, as no universally accepted guidelines have been established. Our goal was to evaluate the literature and develop an evidence-based guideline for the medical management of children and adolescents with NCCAH. We reviewed the published literature and used the Grading of Recommendation, Assessment, Development, and Evaluation (GRADE) system when appropriate to grade the evidence and provide recommendations for the medical management of children and adolescents with NCCAH, appropriate transition practices from pediatric to adult endocrine care, and psychological issues that should be addressed in parents and patients with NCCAH. We offer recommendations, based on the available evidence, for the management of NCCAH at the different developmental stages from diagnosis through transition to adulthood.

  13. Genetics Home Reference: congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

    Science.gov (United States)

    ... Intersex Society of North America MalaCards: adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency March of Dimes: Genital and Urinary Tract Defects Merck Manual Consumer Version: The Body's Control ...

  14. Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

    NARCIS (Netherlands)

    Krone, Nils; Reisch, Nicole; Idkowiak, Jan; Dhir, Vivek; Ivison, Hannah E.; Hughes, Beverly A.; Rose, Ian T.; O'Neil, Donna M.; Vijzelaar, Raymon; Smith, Matthew J.; MacDonald, Fiona; Cole, Trevor R.; Adolphs, Nicolai; Barton, John S.; Blair, Edward M.; Braddock, Stephen R.; Collins, Felicity; Cragun, Deborah L.; Dattani, Mehul T.; Day, Ruth; Dougan, Shelley; Feist, Miriam; Gottschalk, Michael E.; Gregory, John W.; Haim, Michaela; Harrison, Rachel; Olney, Ann Haskins; Hauffa, Berthold P.; Hindmarsh, Peter C.; Hopkin, Robert J.; Jira, Petr E.; Kempers, Marlies; Kerstens, Michiel N.; Khalifa, Mohamed M.; Koehler, Birgit; Maiter, Dominique; Nielsen, Shelly; O'Riordan, Stephen M.; Roth, Christian L.; Shane, Kate P.; Silink, Martin; Stikkelbroeck, Nike M. M. L.; Sweeney, Elizabeth; Szarras-Czapnik, Maria; Waterson, John R.; Williamson, Lori; Hartmann, Michaela F.; Taylor, Norman F.; Wudy, Stefan A.; Malunowicz, Ewa M.; Shackleton, Cedric H. L.; Arlt, Wiebke; Smith, M.J.

    2012-01-01

    Context: P450 oxidoreductase deficiency (PORD) is a unique congenital adrenal hyperplasia variant that manifests with glucocorticoid deficiency, disordered sex development (DSD), and skeletal malformations. No comprehensive data on genotype-phenotype correlations in Caucasian patients are available.

  15. Poor Response to Substitution Therapy with Cortisone Acetate in Patients with Congenital Adrenal Hyperplasia

    OpenAIRE

    Inada, Hiroshi; Imamura, Takuji; Nakajima, Ryoichi; Yamano, Tsunekazu

    2004-01-01

    Although cortisone acetate is approved worldwide as corticosteroid substitution therapy in congenital adrenal hyperplasia (21-hydroxylase deficiency), its effectiveness is uncertain since its biologic activity depends on activation by 11β-hydroxysteroid dehydrogenase (11β-HSD). We sought to compare the effect of cortisone acetate with that of hydrocortisone. In 10 patients with congenital adrenal hyperplasia, cortisone acetate was replaced with hydrocortisone in substitution therapy. During t...

  16. Severity of Virilization Is Associated with Cosmetic Appearance and Sexual Function in Women with Congenital Adrenal Hyperplasia : A Cross-Sectional Study

    NARCIS (Netherlands)

    van der Zwan, Yvonne G.; Janssen, Eefje H. C. C.; Callens, Nina; Wolffenbuttel, Katja P.; Cohen-Kettenis, Peggy T.; van den Berg, Marjan; Drop, Stenvert L. S.; Dessens, Arianne B.; Beerendonk, Catharina

    2013-01-01

    Introduction. Women with the classical form of congenital adrenal hyperplasia (CAH) are born with different degrees of virilization of the external genitalia. Feminizing surgery is often performed in childhood to change the appearance of the genitalia and to enable penilevaginal intercourse later in

  17. Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome

    Directory of Open Access Journals (Sweden)

    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.

  18. Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome.

    Science.gov (United States)

    Mishra, Vineet V; Pritti, Kumari; Aggarwal, Rohina; Choudhary, Sumesh

    2015-01-01

    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.

  19. X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report

    Directory of Open Access Journals (Sweden)

    Metwalley Kotb

    2012-12-01

    Full Text Available Abstract Introduction X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1 gene. Most affected children present with failure to thrive, salt wasting and hypoglycemic convulsions in the first months of life. Hypospadias affects approximately one in 250 live male births. Mutations in the mastermind-like domain-containing 1 (MAMLD1 gene have been implicated as one of the causes of hypospadias in children. To the best of our knowledge, an association between congenital adrenal hypoplasia due to a DAX-1 mutation and hypospadias due to mutation of the MAMLD1 gene has not previously been reported in the literature. Case presentation A 35-day-old male Egyptian baby was referred to our institution for the evaluation of a two-week history of recurrent vomiting associated with electrolyte imbalance. On examination, our patient was found to have hypotension and dehydration. A genital examination showed distal penile hypospadias with chordee and normal testes. He had hyponatremia, hyperkalemia, hypoglycemia and metabolic acidosis. Endocrinological investigations revealed low levels of cortisol, 17-hydroxyprogesterone and aldosterone, with a high level of adrenocorticotrophic hormone. A provisional diagnosis of congenital adrenal hypoplasia associated with hypospadias was made. A molecular genetics study confirmed the diagnosis of X-linked congenital adrenal hypoplasia due to DAX-1 mutations and hypospadias due to MAMLD1 mutation. He was started on hydrocortisone and fludrocortisone treatment. After three weeks of treatment, his symptoms improved and his blood sugar, sodium, potassium and cortisol levels normalized. Conclusions We report the case of an Egyptian baby with an association of congenital adrenal hypoplasia due to DAX-1 mutation and hypospadias due

  20. Complex Genital Malformation in a Female with Congenital Adrenal Hyperplasia: Evaluation with Magnetic Resonance Imaging

    Energy Technology Data Exchange (ETDEWEB)

    Klessen, C.; Asbach, P.; Hein, P. A.; Beyersdorff, D.; Hamm, B.; Taupitz, M. [Humboldt-Univ. of Berlin, Campus Charite Mitte (Germany). Dept. of Radiology

    2005-12-01

    This is a case of complex genital malformation in a young patient with congenital adrenal hyperplasia. The magnetic resonance imaging (MRI) findings included ostium of the vagina into the urethra (common urogenital opening), prostate-like tissue surrounding the urethra, and hyperplasia of the left adrenal gland. The report provides information on the clinical findings, the MRI examination, including the applied sequences and the MR findings, and gives an overview of the disease pattern and its frequency of occurrence.

  1. Motor development in individuals with congenital adrenal hyperplasia: Strength, targeting, and fine motor skill

    OpenAIRE

    Collaer, Marcia L.; Brook, Charles; Conway, Gerard S.; Peter C. Hindmarsh; Hines, Melissa

    2008-01-01

    This study investigated early androgen influence on the development of human motor and visuomotor characteristics. Participants, ages 12 to 45 years, were individuals with congenital adrenal hyperplasia (CAH), a disorder causing increased adrenal androgen production before birth (40 females, 29 males) and their unaffected relatives (29 females, 30 males). We investigated grip strength and visuomotor targeting tasks on which males generally outperform females, and fine motor pegboard tasks on ...

  2. The Medical Home Concept and Congenital Adrenal Hyperplasia: A Comfortable Habitat!

    Directory of Open Access Journals (Sweden)

    Selma Feldman Witchel

    2010-01-01

    Full Text Available Patient-centered interdisciplinary health care for children with chronic medical disorders represents an evolution from the traditional “stop and go” treatment for acute illnesses. This model for health care delivery has been called the “medical home,” a concept that was originally developed in pediatrics for the care of children with special needs. Patient and family-centered, comprehensive, interdisciplinary, culturally effective, and readily accessible health care delivery is desirable for the care of children with congenital adrenal hyperplasia. As children with congenital adrenal hyperplasia (CAH become adolescents and young adults, transfer of this health care delivery model to adult endocrinologists is appropriate.

  3. The Medical Home Concept and Congenital Adrenal Hyperplasia: a Comfortable Habitat!

    Directory of Open Access Journals (Sweden)

    Witchel SelmaFeldman

    2010-05-01

    Full Text Available Patient-centered interdisciplinary health care for children with chronic medical disorders represents an evolution from the traditional "stop and go" treatment for acute illnesses. This model for health care delivery has been called the "medical home," a concept that was originally developed in pediatrics for the care of children with special needs. Patient and family-centered, comprehensive, interdisciplinary, culturally effective, and readily accessible health care delivery is desirable for the care of children with congenital adrenal hyperplasia. As children with congenital adrenal hyperplasia (CAH become adolescents and young adults, transfer of this health care delivery model to adult endocrinologists is appropriate.

  4. Asymptomatic testicular adrenal rest tumours in adolescent and adult males with congenital adrenal hyperplasia: basal and follow-up investigation after 2.6 years.

    NARCIS (Netherlands)

    Stikkelbroeck, N.M.; Hermus, A.R.M.M.; Suliman, H.M.; Jager, G.J.; Otten, B.J.

    2004-01-01

    AIM: To study the course of asymptomatic testicular adrenal rest tumours in patients with congenital adrenal hyperplasia (CAH) and the association between tumour changes and glucocorticoid therapy adjustments. PATIENTS AND METHODS: Fifteen male patients with CAH (21-hydroxylase deficiency), in whom

  5. [Health status of adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].

    Science.gov (United States)

    Bachelot, Anne; Touraine, Philippe

    2014-04-01

    Congenital adrenal hyperplasia (CAH) is the commonest genetic endocrine disorder. Mutations in the 21-hydroxylase gene account for 95 % of cases. CAH is classified according to symptoms and signs and to age of presentation. The clinical phenotype is typically classified as classic, the severe form, or nonclassic (NCF), the mild or late-onset form. Classic CAH is a life-long chronic disorder. In childhood, treatment focuses on genital surgery and optimization of growth and pubertal development. Priorities change with increasing age, typically focusing on fertility in early adult life and prevention of metabolic syndrome and osteoporosis in middle and older age. Recent studies highlight the importance of long-term follow-up of these patients and of transitional care between childhoods to adult life. In nonclassic CAH women, subfertility is mild compared with the classic form and seems to be mainly due to hormonal imbalance. Menstrual cycle or ovulation disorders observed in these women who consulted for infertility are in most cases corrected by hydrocortisone treatment, which led to simultaneous lowering of plasma androgen levels and rapid occurrence of pregnancy. Hydrocortisone also reduces the incidence of miscarriages. Several studies have reported that near 60 % of nonclassic CAH patients are carriers of a severe mutation. These patients may therefore give birth to a child with the classical form of CAH if their partner is also carrying a severe mutation. Due to the high frequency of CYP21A2 mutations in the general population, it is essential to genotype the partner of NC-CAH patients with one severe mutation to offer genetic counselling. PMID:24630263

  6. Combined mucopolysaccharidosis type VI and congenital adrenal hyperplasia in a child: Anesthetic considerations

    Directory of Open Access Journals (Sweden)

    Abhishek Bansal

    2012-01-01

    Full Text Available We present a child posted for magnetic resonance imaging of brain under general anesthesia with the rare combination of mucopolysachharidosis type VI and congenital adrenal hyperplasia. The presence of both these disorders has important anesthetic implications. The pathophysiology of this rare combination of disease is reviewed with emphasis on the anesthesia management.

  7. Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.

    Science.gov (United States)

    Chen, Wuyan; Perritt, Ashley F; Morissette, Rachel; Dreiling, Jennifer L; Bohn, Markus-Frederik; Mallappa, Ashwini; Xu, Zhi; Quezado, Martha; Merke, Deborah P

    2016-09-01

    Some variants that cause autosomal-recessive congenital adrenal hyperplasia (CAH) also cause hypermobility type Ehlers-Danlos syndrome (EDS) due to the monoallelic presence of a chimera disrupting two flanking genes: CYP21A2, encoding 21-hydroxylase, necessary for cortisol and aldosterone biosynthesis, and TNXB, encoding tenascin-X, an extracellular matrix protein. Two types of CAH tenascin-X (CAH-X) chimeras have been described with a total deletion of CYP21A2 and characteristic TNXB variants. CAH-X CH-1 has a TNXB exon 35 120-bp deletion resulting in haploinsufficiency, and CAH-X CH-2 has a TNXB exon 40 c.12174C>G (p.Cys4058Trp) variant resulting in a dominant-negative effect. We present here three patients with biallelic CAH-X and identify a novel dominant-negative chimera termed CAH-X CH-3. Compared with monoallelic CAH-X, biallelic CAH-X results in a more severe phenotype with skin features characteristic of classical EDS. We present evidence for disrupted tenascin-X function and computational data linking the type of TNXB variant to disease severity. PMID:27297501

  8. Hormonal disturbances due to severe and mild forms of congenital adrenal hyperplasia are already detectable in neonatal life

    DEFF Research Database (Denmark)

    Faurschou, Signe; Mouritsen, Annette; Johannsen, Trine H;

    2015-01-01

    AIM: National screening programmes for congenital adrenal hyperplasia now include measuring several adrenal metabolites using highly sensitive liquid chromatography-tandem mass spectrometry. The aim of this study was to compare neonatal hormonal profiles - whole blood concentrations of 17α-hydrox....... CONCLUSION: There were significant differences in neonatal hormonal profiles between all groups and controls. This confirms that hormonal disturbances are already detectable in both severe and mild forms of congenital adrenal hyperplasia in neonatal life.......AIM: National screening programmes for congenital adrenal hyperplasia now include measuring several adrenal metabolites using highly sensitive liquid chromatography-tandem mass spectrometry. The aim of this study was to compare neonatal hormonal profiles - whole blood concentrations of 17α...

  9. A Rare Combination: Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency and Turner Syndrome

    Science.gov (United States)

    Peltek Kendirci, Havva Nur; Aycan, Zehra; Çetinkaya, Semra; Baş, Veysel Nijat; Ağladıoğlu, Sebahat Yılmaz; Önder, Aşan

    2012-01-01

    A combination of Turner syndrome (TS) and classical congenital adrenal hyperplasia (CAH) is rare. A one-day-old newborn was referred to our hospital with ambiguous genitalia. The parents were third-degree relatives. The infant’s weight was 3350g (50-75p), and the head circumference was 34.5cm (50p). The gonads were nonpalpable. Presence of a 3 cm phallus, one urogenital opening into the perineum, and incomplete labial fusion were identified. Laboratory tests revealed a classical type of CAH due to 21-hydroxylase deficiency. Karyotyping revealed a 45X0(35)/46XX(22) pattern with negative sex-determining region Y (SRY) on gene analysis. At the most recent follow-up visit, the patient appeared to be in good health - her height was 70.4 cm [-1.5 standard deviation (SD)] and her weight was 9.8 kg (0.3 SD). She was receiving hydrocortisone in a dose of 10 mg/m2/day, fludrocortisone acetate in a dose of 0.075 mg/day, and oral salt of 1 g/day. System examinations were normal. The patient’s electrolyte levels were found to be normal and she was in good metabolic control. The findings of this patient demonstrate that routine karyotyping during investigation of patients with sexual differentiation disorders can reveal TS. Additionally, signs of virilism should always be investigated at diagnosis or during physical examinations for follow-up of TS cases. [i][/i]SRY analysis should be performed primarily when signs of virilism are observed. CAH should also be considered in patients with negative [i]SRY[/i]. Conflict of interest:None declared. PMID:23261864

  10. A rare combination: congenital adrenal hyperplasia due to 21 hydroxylase deficiency and Turner syndrome.

    Science.gov (United States)

    Kendirci, Havva Nur Peltek; Aycan, Zehra; Çetinkaya, Semra; Baş, Veysel Nijat; Ağladıoğlu, Sebahat Yılmaz; Önder, Aşan

    2012-12-01

    A combination of Turner syndrome (TS) and classical congenital adrenal hyperplasia (CAH) is rare. A one-day-old newborn was referred to our hospital with ambiguous genitalia. The parents were third-degree relatives. The infant's weight was 3350g (50-75p), and the head circumference was 34.5cm (50p). The gonads were nonpalpable. Presence of a 3 cm phallus, one urogenital opening into the perineum, and incomplete labial fusion were identified. Laboratory tests revealed a classical type of CAH due to 21-hydroxylase deficiency. Karyotyping revealed a 45X0(35)/46XX(22) pattern with negative sex-determining region Y (SRY) on gene analysis. At the most recent follow-up visit, the patient appeared to be in good health - her height was 70.4 cm [-1.5 standard deviation (SD)] and her weight was 9.8 kg (0.3 SD). She was receiving hydrocortisone in a dose of 10 mg/m²/day, fludrocortisone acetate in a dose of 0.075 mg/day, and oral salt of 1 g/day. System examinations were normal. The patient's electrolyte levels were found to be normal and she was in good metabolic control. The findings of this patient demonstrate that routine karyotyping during investigation of patients with sexual differentiation disorders can reveal TS. Additionally, signs of virilism should always be investigated at diagnosis or during physical examinations for follow-up of TS cases. SRY analysis should be performed primarily when signs of virilism are observed. CAH should also be considered in patients with negative SRY. PMID:23261864

  11. Physical, social and societal functioning of children with congenital adrenal hyperplasia (CAH) and their parents, in a Dutch population.

    NARCIS (Netherlands)

    Sanches, S.A.; Wiegers, T.A.; Otten, B.J.; Claahsen-van der Grinten, H.L.

    2012-01-01

    BACKGROUND: Most research concerning congenital adrenal hyperplasia (CAH) and related conditions caused by primary adrenal insufficiency, such as Addison's or Cushing's disease, has focused on medical aspects rather than on patients' quality of life. Therefore, our objective was to investigate the p

  12. AB079. Phenotype variation in untreated 46,XX congenital adrenal hyperplasia

    OpenAIRE

    Faradz, Sultana MH; Utari, Agustini; Ediati, Annastasia; Ariani, Mahayu Dewi; Juniarto, Achmad Zulfa

    2015-01-01

    Simple virilizing congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder characterized by 21 hydroxylase deficiency leading to excessive androgen production. In infants with 46,XX karyotype, prenatal exposure of androgen overproduction leads to a gradual virilization of the external genital. Consequently, babies are born with an ambiguous genital which complicates sex assignment. Genital virilization will be progressive if these babies remain untreated. In country where newbo...

  13. Brain White Matter Abnormality in a Newborn Infant with Congenital Adrenal Hyperplasia

    OpenAIRE

    Kaga, Akimune; Saito-hakoda, Akiko; Uematsu, Mitsugu; Kamimura, Miki; Kanno, Junko; Kure, Shigeo; Fujiwara, Ikuma

    2013-01-01

    Several studies have described brain white matter abnormalities on magnetic resonance imaging (MRI) in children and adults with congenital adrenal hyperplasia (CAH), while the brain MRI findings of newborn infants with CAH have not been clarified. We report a newborn boy with CAH who presented brain white matter abnormality on MRI. He was diagnosed as having salt-wasting CAH with a high 17-OHP level at neonatal screening and was initially treated with hydrocortisone at 8 days of age. On day 1...

  14. Splicing mutation in CYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    Kohn, B.; Patel, S.V.; Pelczar, J.V. [North Shore Univ. Hospital, Manhasset, NY (United States)] [and others

    1995-07-03

    Patients with salt-wasting congenital adrenal hyperplasia (SW-CAH) most commonly carry an A-G transition at nucleotide 656 (nt 656 A{r_arrow}G), causing abnormal splicing of exons 2 and 3 in CYP21, the gene encoding active steroid 21-hydroxylase. Affected infants are severely deficient in cortisol and aldosterone, and usually come to medical attention during the neonatal period. We report on 2 affected boys, homozygous for the nt 656 mutation, who thrived in early infancy, but suffered salt-wasting crises unusually late in infancy, at 3.5 and 5.5 months, respectively. Laboratory studies at presentation showed hyponatremia, hyperkalemia, dehydration, and acidosis; serum aldosterone was low in spite of markedly elevated plasma renin activity. Basal 17-hydroxyprogesterone levels were only moderately elevated, yet the stimulated levels were more typical of severe, classic CAH due to 21-hydroxylase deficiency. Genomic DNA from the patients was analyzed. Southern blot showed no major deletions or rearrangements. CYP21-specific amplification by polymerase chain reaction, coupled with allele-specific hybridization using wild-type and mutant probes at each of 9 sites for recognized disease-causing mutations, revealed a single, homozygous mutation in each patient: nt 656 A{r_arrow}G. These results were confirmed by sequence analysis. We conclude that the common nt 656 A{r_arrow}G mutation is sometimes associated with delayed phenotypic expression of SW-CAH. We speculate that variable splicing of the mutant CYP21 may modify the clinical manifestation of this disease. 22 refs., 1 fig., 1 tab.

  15. Congenital Adrenal Hyperplasia in an Elite Female Soccer Player; What Sports Medicine Clinicians Should Know about This?

    OpenAIRE

    ANGOORANI, Hooman; Haratian, Zohreh; Halabchi, Farzin

    2012-01-01

    Background Congenital Adrenal Hyperplasia (CAH) refers to a group of congenital conditions characterized by disordered cortisol synthesis. The correlation between CAH and sports performance has been less studied before and there is very limited information regarding the impacts of this congenital disease on sports performance. Probably, there are some limitations for patients who suffer from CAH in sports, but at the same time, they may enjoy some advantage due to the probable effect of endog...

  16. Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

    Science.gov (United States)

    Menabò, Soara; Polat, Seher; Baldazzi, Lilia; Kulle, Alexandra E; Holterhus, Paul-Martin; Grötzinger, Joachim; Fanelli, Flaminia; Balsamo, Antonio; Riepe, Felix G

    2014-01-01

    Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive inherited endocrine disease. Steroid 11β-hydroxylase deficiency (11β-OHD) is the second most common form of CAH. The aim of the study was to study the functional consequences of three novel and one previously described CYP11B1 gene mutations (p.(Arg143Trp), p.(Ala306Val), p.(Glu310Lys) and p.(Arg332Gln)) detected in patients suffering from classical and non-classical 11β-OHD. Functional analyses were performed by using a HEK293 cell in vitro expression system comparing wild type (WT) with mutant 11β-hydroxylase activity. Mutant proteins were examined in silico to study their effect on the three-dimensional structure of the protein. Two mutations (p.(Ala306Val) and p.(Glu310Lys)) detected in patients with classical 11β-OHD showed a nearly complete loss of 11β-hydroxylase activity. The mutations p.(Arg143Trp) and p.(Arg332Gln) detected in patients with non-classical 11β-OHD showed a partial functional impairment with approximately 8% and 6% of WT activity, respectively. Functional mutation analysis allows the classification of novel CYP11B1 mutations as causes of classical and non-classical 11β-OHD. The detection of patients with non-classical phenotypes underscores the importance to screen patients with a phenotype comparable to non-classical 21-hydroxylase deficiency for mutations in the CYP11B1 gene in case of a negative analysis of the CYP21A2 gene. As CYP11B1 mutations are most often individual for a family, the in vitro analysis of novel mutations is essential for clinical and genetic counselling. PMID:24022297

  17. Prevalence of ovarian adrenal rest tumours and polycystic ovaries in females with congenital adrenal hyperplasia: results of ultrasonography and MR imaging

    International Nuclear Information System (INIS)

    The aim of the investigation was to assess the prevalence of ovarian adrenal rest tumours and polycystic ovaries in female patients with congenital adrenal hyperplasia (CAH). Thirteen female CAH patients (median age 19.8 years, range 14.8-23.5 years) underwent transvaginal (n=6) or transabdominal (n=7) ultrasonography by a gynaecologist and MR imaging (n=13) of the ovaries (pre and post contrast-enhanced T1- and T2-weighted images). Ovarian adrenal rest tumours were defined as small hypoechoic and multifocal nodules on ultrasound and isointense lesions on T1- and hypointense on T2-weighted MR images (derived from characteristics of testicular adrenal rest tumours). Polycystic ovaries were defined as the presence of ≥10 follicles arranged peripherally around or scattered throughout increased stroma. No ovarian adrenal rest tumours were found either on ultrasound, or by MR imaging. Polycystic ovaries were found in 2 of the 13 patients (15.4%), both with ultrasound and MR. No ovarian adrenal rest tumours were detected in these female CAH patients, which suggests that ovarian adrenal rest tumours in CAH females are rare. The prevalence of polycystic ovaries corresponded to that in the general population. From these results, we would suggest that routine ovarian imaging in CAH females is not indicated. However, when ovarian dysfunction is present, ovarian imaging is advised, first by ultrasonography, to detect ovarian adrenal rest tumours or polycystic ovaries. (orig.)

  18. Characterization of novel StAR (steroidogenic acute regulatory protein mutations causing non-classic lipoid adrenal hyperplasia.

    Directory of Open Access Journals (Sweden)

    Christa E Flück

    Full Text Available CONTEXT: Steroidogenic acute regulatory protein (StAR is crucial for transport of cholesterol to mitochondria where biosynthesis of steroids is initiated. Loss of StAR function causes lipoid congenital adrenal hyperplasia (LCAH. OBJECTIVE: StAR gene mutations causing partial loss of function manifest atypical and may be mistaken as familial glucocorticoid deficiency. Only a few mutations have been reported. DESIGN: To report clinical, biochemical, genetic, protein structure and functional data on two novel StAR mutations, and to compare them with published literature. SETTING: Collaboration between the University Children's Hospital Bern, Switzerland, and the CIBERER, Hospital Vall d'Hebron, Autonomous University, Barcelona, Spain. PATIENTS: Two subjects of a non-consanguineous Caucasian family were studied. The 46,XX phenotypic normal female was diagnosed with adrenal insufficiency at the age of 10 months, had normal pubertal development and still has no signs of hypergonodatropic hypogonadism at 32 years of age. Her 46,XY brother was born with normal male external genitalia and was diagnosed with adrenal insufficiency at 14 months. Puberty was normal and no signs of hypergonadotropic hypogonadism are present at 29 years of age. RESULTS: StAR gene analysis revealed two novel compound heterozygote mutations T44HfsX3 and G221S. T44HfsX3 is a loss-of-function StAR mutation. G221S retains partial activity (∼30% and is therefore responsible for a milder, non-classic phenotype. G221S is located in the cholesterol binding pocket and seems to alter binding/release of cholesterol. CONCLUSIONS: StAR mutations located in the cholesterol binding pocket (V187M, R188C, R192C, G221D/S seem to cause non-classic lipoid CAH. Accuracy of genotype-phenotype prediction by in vitro testing may vary with the assays employed.

  19. High 17-hydroxyprogesterone level in newborn screening test for congenital adrenal hyperplasia.

    Science.gov (United States)

    Levy-Shraga, Yael; Pinhas-Hamiel, Orit

    2016-01-01

    We report a case of a female infant with an elevated 17-hydroxyprogesterone level detected in the newborn screening for 21-hydroxylase deficiency, the most common cause of congenital adrenal hyperplasia. The physical examination was unremarkable including no dysmorphism and no signs of virilisation. In the absence of clinical evidence of androgen excess, as would be expected in a female infant with 21-hydroxylase deficiency, further evaluation was performed and led to the diagnosis of the extremely rare disorder, 3β-hydroxysteroid dehydrogenase deficiency. This case highlights the differential diagnosis of elevated 17-hydroxyprogesterone levels in newborn screening and the importance of correct diagnosis for improving patient care. PMID:26912766

  20. Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene.

    Science.gov (United States)

    Raisingani, Manish; Contreras, Maria F; Prasad, Kris; Pappas, John G; Kluge, Michelle L; Shah, Bina; David, Raphael

    2016-07-01

    Gonadotropin independent sexual precocity (SP) may be due to congenital adrenal hyperplasia (CAH), and its timing usually depends on the type of mutation in the CYP21A2 gene. Compound heterozygotes are common and express phenotypes of varying severity. The objective of this case report was to investigate the hormonal pattern and unusual genetic profile in a 7-year-old boy who presented with pubic hair, acne, an enlarged phallus, slightly increased testicular volume and advanced bone age. Clinical, hormonal and genetic studies were undertaken in the patient as well as his parents. We found elevated serum 17-hydroxyprogesterone (17-OHP) and androstenedione that were suppressed with dexamethasone, and elevated testosterone that actually rose after giving dexamethasone, indicating activity of the hypothalamic-pituitary-gonadal (HPG) axis. An initial search for common mutations was negative, but a more detailed genetic analysis of the CYP21A2 gene revealed two mutations including R341W, a non-classical mutation inherited from his mother, and g.823G>A, a novel not previously reported consensus donor splice site mutation inherited from his father, which is predicted to be salt wasting. However, the child had a normal plasma renin activity. He was effectively treated with low-dose dexamethasone and a GnRH agonist. His father was an unaffected carrier, but his mother had evidence of mild non-classical CAH. In a male child presenting with gonadotropin independent SP it is important to investigate adrenal function with respect to the androgen profile, and to carry out appropriate genetic studies. PMID:27180336

  1. Left ventricular failure due to a rare variant of congenital adrenal hyperplasia.

    Science.gov (United States)

    Bhatia, Sonal; Muranjan, Mamta N; Lahiri, Keya R

    2012-09-01

    "Hypertensive" variant of congenital adrenal hyperplasia is rare. The authors describe an interesting case of a 6-y-old boy who presented with an acute respiratory illness and progressive breathlessness since 1 y. Genital hyperpigmentation was noticed since 2 y of age; the onset of pubarche and increasing penile size at 4 y. He was admitted in congestive cardiac failure with a blood pressure of 150/100 mm Hg. Facial acne; slight facial, pubic hair and penile enlargement were additionally noted. Chest radiograph revealed cardiomegaly. Basal ACTH and 17-OHP levels were high. A diagnosis of congenital adrenal hyperplasia (11β-hydroxylase deficiency) was made due to hypertension with virilized genitalia. Cardiac failure was controlled with fluid restriction and diuretics; he was started on prednisolone, spironolactone and nifedipine. This case is presented for its rarity where hypertension can cause complication of cardiac failure, if diagnosis is delayed despite early features of pseudoprecocious puberty. PMID:22231770

  2. Linking Prenatal Androgens to Gender-Related Attitudes, Identity, and Activities: Evidence From Girls With Congenital Adrenal Hyperplasia.

    Science.gov (United States)

    Endendijk, Joyce J; Beltz, Adriene M; McHale, Susan M; Bryk, Kristina; Berenbaum, Sheri A

    2016-10-01

    Key questions for developmentalists concern the origins of gender attitudes and their implications for behavior. We examined whether prenatal androgen exposure was related to gender attitudes, and whether and how the links between attitudes and gendered activity interest and participation were mediated by gender identity and moderated by hormones. Gender attitudes (i.e., gender-role attitudes and attitudes about being a girl), gender identity, and gender-typed activities were reported by 54 girls aged 10-13 years varying in degree of prenatal androgen exposure, including 40 girls with classical congenital adrenal hyperplasia (C-CAH) exposed to high prenatal androgens and 14 girls with non-classical (NC) CAH exposed to low, female-typical, prenatal androgens. Both girls with C-CAH and NC-CAH reported positive attitudes about being a girl and egalitarian gender attitudes, consistent with their female-typical gender identity. In contrast, girls with C-CAH had more male-typed activity interest and participation than girls with NC-CAH. Gender attitudes were linked to activities in both groups, with gender identity mediating the links. Specifically, gender-role attitudes and positive attitudes about being a girl were associated with feminine gender identity, which in turn was associated with decreased male-typed activity interests and participation, and increased female-typed activity interests. Our results are consistent with schema theories, with attitudes more closely associated with gender identity than with prenatal androgens.

  3. Increased Cross-Gender Identification Independent of Gender Role Behavior in Girls with Congenital Adrenal Hyperplasia: Results from a Standardized Assessment of 4- to 11-Year-Old Children

    OpenAIRE

    Pasterski, Vickie; Zucker, Kenneth J.; Peter C. Hindmarsh; Hughes, Ieuan A.; Acerini, Carlo; Spencer, Debra; Neufeld, Sharon; Hines, Melissa

    2014-01-01

    While reports showing a link between prenatal androgen exposure and human gender role behavior are consistent and the effects are robust, associations to gender identity or cross-gender identification are less clear. The aim of the current study was to investigate potential cross-gender identification in girls exposed prenatally to high concentrations of androgens due to classical congenital adrenal hyperplasia (CAH). Assessment included two standardized measures and a short parent interview ...

  4. A case of androgen-secreting adrenal carcinoma with non-classical congenital adrenal hyperplasia

    OpenAIRE

    Tarun Varma; Roopal Panchani; Ashutosh Goyal; Robin Maskey

    2013-01-01

    Androgen excess is one of the most common and disturbing endocrine disorder of reproductive-aged women, affecting approximately 7% of this population Androgen excess results in the development of androgenic features in the women affected, with the development of hirsutism, androgenic alopecia, ovulatory dysfunction, and, if extreme, even virilization and masculinization. Adrenocortical carcinoma (ACC) is a rare malignancy accounting for 0.02% of all annual cancers reported. About 60% are func...

  5. Comparison of Clinico-Radiological Features between Congenital Cystic Neuroblastoma and Neonatal Adrenal Hemorrhagic Pseudocyst

    Energy Technology Data Exchange (ETDEWEB)

    Eo, Hong; Kim, Ji Hye; Jang, Kyung Mi; Yoo, So Young [Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of); Lim, Gye Yeon [St. Mary' s Hospital Catholic University, Seoul (Korea, Republic of); Kim, Myung Joon [Severance Hospital Yonsei University, Seoul (Korea, Republic of); Kim, Ok Hwa [Ajou University Hospital, Suwon (Korea, Republic of)

    2011-02-15

    To evaluate the radiological and clinical findings of congenital cystic neuroblastomas as compared with those of the cystic presentation of neonatal adrenal hemorrhage. We analyzed the US (n = 52), CT (n = 24), and MR (n = 4) images as well as the medical records of 28 patients harboring congenital cystic neuroblastomas (n = 16) and neonatal adrenal hemorrhagic pseudocysts (n = 14). The history of prenatal detection, location, size, presence of outer wall enhancement, internal septations, solid portion, calcification, turbidity, vascular flow on a Doppler examination, and evolution patterns were compared in two groups of cystic lesions, by Fischer's exact test. All (100%) neuroblastomas and three (21%) of the 14 hemorrhagic pseudocysts were detected prenatally. Both groups of cystic lesions occurred more frequently on the right side; 11 of 16 (69%) for neuroblastomas and 11 of 14 (79%) for hemorrhagic pseudocysts. The size, presence of solid portion, septum, enhancement, and turbidity did not differ significantly (p > 0.05) between the two groups of cystic lesions. However, tiny calcifications (n = 3) and vascular flow on color Doppler US (n = 3) were noted in only neuroblastomas. The cystic neuroblastomas became complex solid and cystic masses, and did not disappear for up to 90 days in the three following cases, whereas 11 of the 14 (79%) hemorrhagic pseudocysts disappeared completely and the three remaining (27%) evolved to calcifications only. Although the imaging findings of two groups of cystic lesions were similar, prenatal detection, the presence of calcification on initial images, vascularity on color Doppler US, and evolution to a more complex mass may all favor neuroblastomas

  6. Effects on gender identity of prenatal androgens and genital appearance: evidence from girls with congenital adrenal hyperplasia.

    Science.gov (United States)

    Berenbaum, Sheri A; Bailey, J Michael

    2003-03-01

    To address questions about sex assignment in children with ambiguous genitalia, we studied gender identity in girls with congenital adrenal hyperplasia (CAH) in relation to characteristics of the disease and treatment, particularly genital appearance and surgery. A 9-item gender identity interview was administered to 43 girls with classical CAH ranging in age from 3-18 yr, 7 tomboys, and 29 sister control girls. Groups were compared on total score and on individual items. Results showed that, on the total gender identity score, 88% of girls with CAH had scores overlapping those of control girls, but the average score was intermediate between control girls and tomboys. On individual items of gender identity (discomfort as a girl, wish to be a boy), girls with CAH were similar to control girls. Gender identity in girls with CAH was not related to degree of genital virilization or age at which genital reconstructive surgery was done. Thus, moderate androgen excess early in development appears to produce a small increase in the risk of atypical gender identity, but this risk cannot be predicted from genital virilization. PMID:12629091

  7. Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient

    Science.gov (United States)

    Kaur, Jasmeet; Casas, Luis

    2016-01-01

    Summary Lipoid congenital adrenal hyperplasia (lipoid CAH), the most severe form of CAH, is most commonly caused by mutations in steroidogenic acute regulatory protein (STAR), which is required for the movement of cholesterol from the outer to the inner mitochondrial membranes to synthesize pregnenolone. This study was performed to evaluate whether the salt-losing crisis and the adrenal inactivity experienced by a Scandinavian infant is due to a de novo STAR mutation. The study was conducted at the University of North Dakota, the Mercer University School of Medicine and the Memorial University Medical Center to identify the cause of this disease. The patient was admitted to a pediatric endocrinologist at the Sanford Health Center for salt-losing crisis and possible adrenal failure. Lipoid CAH is an autosomal recessive disease, we identified two de novo heterozygous mutations (STAR c.444C>A (STAR p.N148K) and STAR c.557C>T (STAR p.R193X)) in the STAR gene, causing lipoid CAH. New onset lipoid CAH can occur through de novo mutations and is not restricted to any specific region of the world. This Scandinavian family was of Norwegian descent and had lipoid CAH due to a mutation in S TAR exons 4 and 5. Overexpression of the STAR p.N148K mutant in nonsteroidogenic COS-1 cells supplemented with an electron transport system showed activity similar to the background level, which was ∼10% of that observed with wild-type (WT) STAR. Protein-folding analysis showed that the finger printing of the STAR p.N148K mutant is also different from the WT protein. Inherited STAR mutations may be more prevalent in some geographical areas but not necessarily restricted to those regions. Learning points STAR mutations cause lipoid CAH.This is a pure population from a caucasian family.Mutation ablated STAR activity.The mutation resulted in loosely folded conformation of STAR. PMID:27047663

  8. Long-term follow-up of prenatally dexamethasone-treated children at risk for congenital adrenal hyperplasia

    OpenAIRE

    Hirvikoski, Tatja

    2011-01-01

    Congenital adrenal hyperplasia (CAH) is a disorder of steroid genesis affecting approximately 1:10 000 children and leading to increased levels of androgens during foetal life and subsequent virilization of external genitalia in affected girls. However, prenatal virilization can be eliminated by antenatal dexamethasone (DEX) treatment. To be fully effective, DEX treatment has to be started in the 6–7th postmenstrual week and continued until the results of the prenatal diagnosis are available ...

  9. Metachronous Bilateral Testicular Leydig-Like Tumors Leading to the Diagnosis of Congenital Adrenal Hyperplasia (Adrenogenital Syndrome

    Directory of Open Access Journals (Sweden)

    Josip Vukina

    2015-01-01

    Full Text Available A 33-year-old male with a history of left testis Leydig cell tumor (LCT, 3-month status after left radical orchiectomy, presented with a rapidly enlarging (0.6 cm to 3.7 cm right testicular mass. He underwent a right radical orchiectomy, sections interpreted as showing a similar Leydig cell-like oncocytic proliferation, with a differential diagnosis including metachronous bilateral LCT and metachronous bilateral testicular tumors associated with congenital adrenal hyperplasia (a.k.a. “testicular adrenal rest tumors” (TARTs and “testicular tumors of the adrenogenital syndrome” (TTAGS. Additional workup demonstrated a markedly elevated serum adrenocorticotropic hormone (ACTH and elevated adrenal precursor steroid levels. He was diagnosed with congenital adrenal hyperplasia, 3β-hydroxysteroid dehydrogenase deficiency (3BHSD type, and started on treatment. Metachronous bilateral testicular masses in adults should prompt consideration of adult presentation of CAH. Since all untreated CAH patients are expected to have elevated serum ACTH, formal exclusion of CAH prior to surgical resection of a testicular Leydig-like proliferation could be accomplished by screening for elevated serum ACTH.

  10. Congenital adrenal hyperplasia: a case report with premature teeth exfoliation and bone resorption.

    Science.gov (United States)

    Angelopoulou, Matina V; Kontogiorgos, Elias; Emmanouil, Dimitris

    2015-06-01

    Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated eruption of his permanent teeth related to bone resorption. A 4.5-year-old Caucasian boy with CAH and long-term administration of glucocorticoids was referred for dental restoration. Clinical examination revealed primary molars with worn stainless steel crowns, severe attrition of the upper canines, and absence of the upper incisors. Before the completion of treatment, abnormal mobility of the first upper primary molars and the lower incisors was detected, and a few days later the teeth exfoliated prematurely. Histologic examination revealed normal tooth structure. Alkaline phosphatase and blood cells values were normal. Eruption of the permanent dentition was also accelerated. Tooth mobility was noticed in the permanent teeth as soon as they erupted, along with bone destruction. Examination revealed an elevated level of receptor activator of nuclear factor-κB ligand and lower-than-normal osteoprotegerin and vitamin D levels. The patient was treated with vitamin D supplements, and his teeth have been stable ever since. CAH is a serious chronic disorder appearing in children with accelerated dental development and possibly premature loss of primary teeth.

  11. Quality of life, social situation, and sexual satisfaction, in adult males with congenital adrenal hyperplasia.

    Science.gov (United States)

    Falhammar, Henrik; Nyström, Helena Filipsson; Thorén, Marja

    2014-09-01

    To determine quality of life (QoL) in adult males with congenital adrenal hyperplasia (CAH). CAH males with 21-hydroxylase deficiency (n = 30), 19-67 years old, were compared with controls (n = 32). QoL was assessed using questionnaires on general living conditions and sexual issues, and the psychological well-being index (PGWB) form. Fewer CAH males than controls were students (3 vs. 25 %, P = 0.028) and more had blue-collar work (57 vs. 33 %, P = 0.023). Patients were less interested in sports (47 vs. 72 %, P = 0.034) and art/literature/film (10 vs. 47 %, P = 0.004). PGWB total score was 82.7 ± 13.7 versus 87.0 ± 11.1 (P = NS), but hydrocortisone/cortisone acetate treated scored lower than controls and prednisolone treated. Glucocorticoid over-treated had lower QoL than those with poor control (PGWB total score 77.1 ± 13.5 vs. 92.4 ± 11.1, P = 0.026) and controls (P = 0.025). Total PGWB score was positively correlated with adrenal androgens and steroid precursors. Subscale scores indicated that patients with late diagnosis were more depressive (12.1 ± 2.8 vs. 13.9 ± 1.4, P = 0.011) and had a lower self-control (11.3 ± 3.6 vs. 13.1 ± 1.0, P = 0.019) compared with controls. Sexual satisfaction was similar in spite of more patients being sexually inactive (27 vs. 6 %, P = 0.040). Adult CAH males differed from controls with respect to type of occupation and spare time interests but had similar QoL despite being less sexually active. Optimizing glucocorticoid therapy might further improve QoL. Some disadvantages found in patients diagnosed late will hopefully not be seen in patients diagnosed by neonatal screening, but this has yet to be studied. PMID:24408051

  12. Anorexia nervosa in congenital adrenal hyperplasia: long-term follow-up of 4 cases.

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    Brand, M; Schoof, E; Partsch C-J; Peter, M; Hoepffner, W; Dörr, H G; Sippell, W G

    2000-01-01

    Studies which evaluate the psychosocial development and integration of adult female congenital adrenal hyperplasia (CAH) patients are rare but show that patients with the salt wasting form are significantly more virilized and more frequently single and childless. Major complaints are irregular menstruation, hirsutism, acne, obesity, deep voice, and cushingoid features. Surprisingly, a higher prevalence of psychosomatic disorders has not yet been described. Since anorexia nervosa (AN) has not yet been described in patients with CAH, we here report 4 cases of female CAH patients who developed AN during adolescence. Diagnosis of CAH was made between the age of 10 days and 3 years. Three patients suffer from the simple-virilizing form of CAH, one patient has a mild salt wasting CAH. Genital malformation varied from Prader stage II to IV. All 4 patients were compound heterozygotes for mutations/deletions of the CYP21B gene. Control of substitution therapy consisting of hydrocortisone and fluorocortisone was good. AN developed at ages 12, 13, 17, and 21 years (ICD 10 criteria for AN are BMI below 17.5 kg/m2, deliberate weight loss, body image disturbance, and primary or secondary amenorrhoea). Diagnosis of AN was established by psychiatrists and/or psychologists. All four patients showed an impressive and deliberate weight loss between 13 and 20 kg within 6 months, had primary or secondary amenorrhoea, and presented with BMI between 13 and 17.9 kg/m2. All patients received psychological treatment and recovered. However, one patient had a severe relapse of AN. Two patients are now married and one has a healthy son. These cases demonstrate that the diagnosis of CAH is compatible with the development of AN and illustrate the importance of providing treatment for CAH patients that encompasses not only medical but also psychological and social care. PMID:11026757

  13. Bone mineral density in young adult women with congenital adrenal hyperplasia

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    Nishant Raizada

    2016-01-01

    Full Text Available Background: There is equipoise regarding the status of bone mineral density (BMD in patients with congenital adrenal hyperplasia (CAH, where patients need to be on long-term low-dose steroids. Objective: We aimed to evaluate BMD at the hip, spine and forearm in women with CAH and compare it to healthy young adult women of the same age range. Subjects and Methods: Fifteen adult women with CAH with age ranging from 18 to 40 years (mean ± standard deviation = 27.5 ± 6.2 years underwent dual-energy X-ray absorptiometry along with laboratory evaluation. BMD at lumbar spine, hip, forearm along with T-scores were measured. Serum total calcium, phosphate, alkaline phosphatase, 25 hydroxy Vitamin D, intact parathyroid hormone, total testosterone, and dehydroepiandrosterone were assayed. History of any fractures in the past was taken. Fifteen healthy women in the same age range were taken as controls for comparison. Results: The BMD at hip (0.85 ± 0.02 g/cm2 in CAH was significantly lower as compared with controls (0.92 ± 0.03 g/cm2, P = 0.029. BMD at lumbar spine was also reduced (0.96 ± 0.02 vs. 1.03 ± 0.03, P = 0.057. The BMD at forearm was not significantly different between CAH and controls. The mean Vitamin D was 9.8 ng/ml (deficient range. There was no history of fractures in CAH. Conclusion: Young adult CAH women had lower BMD at spine and hip than healthy young adult women of the same age range. The forearm BMD was not different from controls. No change in fracture frequency was present. Patients with CAH being treated with steroids are at increased risk of osteopenia, and their bone health needs to be monitored.

  14. Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia

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    Ruqayah G. Y. Al-Obaidi

    2016-01-01

    Full Text Available Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years. They presented with salt wasting, simple virilization, or pseudoprecocious puberty. Cytogenetic study was performed for cases with ambiguous genitalia. Molecular analysis of CYP21A2 gene was done using the CAH StripAssay (ViennaLab Diagnostics for detection of 11 point mutations and >50% of large gene deletions/conversions. Mutations were found in 42 (67.7% patients; 31 (50% patients were homozygotes, 9 (14.5% were heterozygotes, and 2 (3.2% were compound heterozygotes with 3 mutations, while 20 (32.3% patients had none of the tested mutations. The most frequently detected mutations were large gene deletions/conversions found in 12 (19.4% patients, followed by I2Splice and Q318X in 8 (12.9% patients each, I172N in 5 (8.1% patients, and V281L in 4 (6.5% patients. Del 8 bp, P453S, and R483P were each found in one (1.6% and complex alleles were found in 2 (3.2%. Four point mutations (P30L, Cluster E6, L307 frameshift, and R356W were not identified in any patient. In conclusion, gene deletions/conversions and 7 point mutations were recorded in varying proportions, the former being the commonest, generally similar to what was reported in regional countries.

  15. Ethnic disparity in 21-hydroxylase gene mutations identified in Pakistani congenital adrenal hyperplasia patients

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    Jabbar Abdul

    2011-02-01

    Full Text Available Abstract Background Congenital adrenal hyperplasia (CAH is a group of autosomal recessive disorders caused by defects in the steroid 21 hydroxylase gene (CYP21A2. We studied the spectrum of mutations in CYP21A2 gene in a multi-ethnic population in Pakistan to explore the genetics of CAH. Methods A cross sectional study was conducted for the identification of mutations CYP21A2 and their phenotypic associations in CAH using ARMS-PCR assay. Results Overall, 29 patients were analyzed for nine different mutations. The group consisted of two major forms of CAH including 17 salt wasters and 12 simple virilizers. There were 14 phenotypic males and 15 females representing all the major ethnic groups of Pakistan. Parental consanguinity was reported in 65% cases and was equally distributed in the major ethnic groups. Among 58 chromosomes analyzed, mutations were identified in 45 (78.6% chromosomes. The most frequent mutation was I2 splice (27% followed by Ile173Asn (26%, Arg 357 Trp (19%, Gln319stop, 16% and Leu308InsT (12%, whereas Val282Leu was not observed in this study. Homozygosity was seen in 44% and heterozygosity in 34% cases. I2 splice mutation was found to be associated with SW in the homozygous. The Ile173Asn mutation was identified in both SW and SV forms. Moreover, Arg357Trp manifested SW in compound heterozygous state. Conclusion Our study showed that CAH exists in our population with ethnic difference in the prevalence of mutations examined.

  16. Male genitoplasty for 46 XX congenital adrenal hyperplasia patients presenting late and reared as males

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    Shilpa Sharma

    2012-01-01

    Full Text Available Aim: To evaluate the clinical profile and management of 46 XX Congenital Adrenal Hyperplasia (CAH patients presenting with severe virilization and assigned a male gender. Materials and Methods: Of 173 children diagnosed with CAH at the Pediatric Intersex Clinic since 1980, seven children with CAH presented late with severe virilization and were reared as males. All of them were assigned the male sex with removal of the female adnexa. Six were treated with male genitoplasty. Appropriate hormonal supplementation was offered after puberty. Results: The mean age at presentation was 14.2 years (7 - 21. Six patients had presented after puberty, only one at seven years of age. Staged male genitoplasty comprising of chordee correction, male urethroplasty, and bilateral testicular prosthesis was performed. The female adnexa (uterus, ovaries, most of the upper vagina, and the fallopian tubes were removed. The mental makeup was masculine in six and bigender in one. Bilateral mastectomy was performed at puberty in all. Hormonal treatment comprised of glucocorticoids and testosterone. Six patients were comfortable with the outcome of the masculinizing genitoplasty. One had a short-sized phallus. One had repeated attacks of urinary tract infection arising from the retained lower vaginal pouch. Social adjustments were good in all, except in one who had a bigender mental makeup. Conclusion: CAH patients with severe virilization presenting late and reared as males are extremely rare. However, the assigned gender can be retained adequately as males, meeting the socioeconomic compulsions of the society. The results are satisfactory following appropriate surgical procedures and hormonal supplementation.

  17. Reduced short term memory in congenital adrenal hyperplasia (CAH) and its relationship to spatial and quantitative performance.

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    Collaer, Marcia L; Hindmarsh, Peter C; Pasterski, Vickie; Fane, Briony A; Hines, Melissa

    2016-02-01

    Girls and women with classical congenital adrenal hyperplasia (CAH) experience elevated androgens prenatally and show increased male-typical development for certain behaviors. Further, individuals with CAH receive glucocorticoid (GC) treatment postnatally, and this GC treatment could have negative cognitive consequences. We investigated two alternative hypotheses, that: (a) early androgen exposure in females with CAH masculinizes (improves) spatial perception and quantitative abilities at which males typically outperform females, or (b) CAH is associated with performance decrements in these domains, perhaps due to reduced short-term-memory (STM). Adolescent and adult individuals with CAH (40 female and 29 male) were compared with relative controls (29 female and 30 male) on spatial perception and quantitative abilities as well as on Digit Span (DS) to assess STM and on Vocabulary to assess general intelligence. Females with CAH did not perform better (more male-typical) on spatial perception or quantitative abilities than control females, failing to support the hypothesis of cognitive masculinization. Rather, in the sample as a whole individuals with CAH scored lower on spatial perception (p ≤ .009), a quantitative composite (p ≤ .036), and DS (p ≤ .001), despite no differences in general intelligence. Separate analyses of adolescent and adult participants suggested the spatial and quantitative effects might be present only in adult patients with CAH; however, reduced DS performance was found in patients with CAH regardless of age group. Separate regression analyses showed that DS predicted both spatial perception and quantitative performance (both p ≤ .001), when age, sex, and diagnosis status were controlled. Thus, reduced STM in CAH patients versus controls may have more general cognitive consequences, potentially reducing spatial perception and quantitative skills. Although hyponatremia or other aspects of salt-wasting crises or additional hormone

  18. REPORT OF 285 PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA AND EVALUATION OF APPROXIMATE REVALENCE OF THE DISEASE IN IRAN

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    H. Moayeri

    1999-07-01

    Full Text Available In this study, 285 cases of congenital adrenal hyperplasia who were followed in the Tehran University Hospitals and Institute of Endocrinology and Metabolism arc reported. Among these cases, 165 (57.9% were female and 120 (42.1%, male. The most common type of congenital adrenal hyperplasia in these patients was the salt-losing type of 21-hydroxylase deficiency (57.9%; 11-hydroxylase deficiency was present in 13.68% of patients. There were only 3 cases with 3-beta hydroxysteroid dehydrogenase deficiency, 2 cases with 17-alphahydroxylase deficiency and one with 20, 22-desmolase deficiency. Presenting complaints were in decreasing order of frequency: ambiguous genitalia, vomiting and dehydration, precocious puberty, hypertension, failure to thrive, hirsutism and primary amenorrhea. The age of patients at the time of diagnosis was between 2 days to 17 years and the most common age was in the first two years of life especially in the neonatal period."nA positive family history of the same disease was present in 17 siblings of our patients. (21-OHD = 14 H-OHD=3. There were 27 cases of death among these patients (23 male and 4 female that 24 cases had 21-OHD and 2 cases had 3 beta HSD deficiency and one case had 20,22-desmolase deficiency .

  19. Physical, social and societal functioning of children with congenital adrenal hyperplasia (CAH and their parents, in a Dutch population

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    Sanches Sarita A

    2012-02-01

    Full Text Available Abstract Background Most research concerning congenital adrenal hyperplasia (CAH and related conditions caused by primary adrenal insufficiency, such as Addison's or Cushing's disease, has focused on medical aspects rather than on patients' quality of life. Therefore, our objective was to investigate the physical, social and societal functioning of children with CAH and their parents in a Dutch population. Methods The study is descriptive and cross-sectional. Self-designed questionnaires, based on questionnaires developed in the Netherlands for different patient groups, were sent to parents of children with CAH between 0 and 18 years old. Participants were recruited through the Dutch patient group for Adrenal Disease (NVACP and six hospitals in the Netherlands. Three different questionnaires were designed for parents: for children aged 0 - 4, aged 4 - 12 and aged 12 - 18. Additionally, a fourth questionnaire was sent to adolescents with CAH aged 12 - 18. Main outcome measures were experienced burden of the condition, self-management and participation in several areas, such as school and leisure time. Results A total of 106 parents returned the questionnaire, 12 regarding pre-school children (0-4 years, 63 regarding primary school children (4-12 years, and 32 regarding secondary school children (12-18 years, combined response rate 69.7%. Also, 24 adolescents returned the questionnaire. Children and adolescents with CAH appear to be capable of self-management at a young age. Experienced burden of the condition is low, although children experience several health related problems on a daily basis. Children participate well in school and leisure time. Few children carry a crisis card or emergency injection with them. Conclusions Overall, our research shows that, according to their parents, children with CAH experience few negative effects of the condition and that they participate well in several areas such as school and leisure time. However

  20. The long term outcome of feminizing genital surgery for congenital adrenal hyperplasia: anatomical, functional and cosmetic outcomes, psychosexual development, and satisfaction in adult female patients.

    NARCIS (Netherlands)

    Stikkelbroeck, M.M.L.; Beerendonk, C.C.M.; Willemsen, W.N.P.; Schreuders-Bais, C.; Feitz, W.F.J.; Rieu, P.N.M.A.; Hermus, A.R.M.M.; Otten, B.J.

    2003-01-01

    BACKGROUND: There are only a few reports analyzing the long term outcome of feminizing surgery in females with congenital adrenal hyperplasia (CAH). Such analysis is crucial to evaluate the treatment and to make necessary adjustments. STUDY OBJECTIVES: To evaluate the adult outcome after feminizing

  1. Hiperplasia supra-renal congênita por deficiência de 11-ß-hidroxilase Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

    OpenAIRE

    Ramires Tosatti Júnior; Haroldo Silva de Souza; Alexandre Tosatti

    2005-01-01

    Este artigo tem o objetivo de relatar o diagnóstico e a evolução clínica de um paciente de 15 anos portador de uma disfunção congênita da esteroideogênese adrenal, que pode apresentar-se como hipertensão arterial de diagnóstico muitas vezes tardio (adolescência), virilização ou formas perdedoras de sal (nascimento e infância).The objective of this article is to relate the diagnostic and clinical evolution of a 15 year old patient with a congenital adrenal steroidogenesis dysfunction that can ...

  2. Alu Sx repeat-induced homozygous deletion of the StAR gene causes lipoid congenital adrenal hyperplasia.

    Science.gov (United States)

    Eiden-Plach, Antje; Nguyen, Huy-Hoang; Schneider, Ursula; Hartmann, Michaela F; Bernhardt, Rita; Hannemann, Frank; Wudy, Stefan A

    2012-05-01

    Lipoid congenital adrenal hyperplasia (Lipoid CAH) is the most severe form of the autosomal recessive disorder CAH. A general loss of the steroid biosynthetic activity caused by defects in the StAR gene manifests as life-threatening primary adrenal insufficiency. We report a case of Lipoid CAH caused by a so far not described homozygous deletion of the complete StAR gene and provide diagnostic results based on a GC-MS steroid metabolomics and molecular genetic analysis. The patient presented with postnatal hypoglycemia, vomiting, adynamia, increasing pigmentation and hyponatremia. The constellation of urinary steroid metabolites suggested Lipoid CAH and ruled out all other forms of CAH or defects of aldosterone biosynthesis. After treatment with sodium supplementation, hydrocortisone and fludrocortisone the child fully recovered. Molecular genetic analysis demonstrated a homozygous 12.1 kb deletion in the StAR gene locus. The breakpoints of the deletion are embedded into two typical genomic repetitive Alu Sx elements upstream and downstream of the gene leading to the loss of all exons and regulatory elements. We established deletion-specific and intact allele-specific PCR methods and determined the StAR gene status of all available family members over three generations. This analysis revealed that one of the siblings, who died a few weeks after birth, carried the same genetic defect. Since several Alu repeats at the StAR gene locus increase the probability of deletions, patients with typical symptoms of lipoid CAH lacking evidence for the presence of both StAR alleles should be analyzed carefully for this kind of disorder.

  3. A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy

    OpenAIRE

    Alqahtani, Mohammad A.; Ayed A. Shati; Minjing Zou; Alsuheel, Ali M.; Alhayani, Abdullah A.; Al-Qahtani, Saleh M.; Gilban, Hessa M.; Meyer, Brain F.; Yufei Shi

    2015-01-01

    Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency is the second most common form of CAH, resulting from a mutation in the CYP11B1 gene. Steroid 11β-hydroxylase deficiency results in excessive mineralcorticoids and androgen production leading to hypertension, precocious puberty with acne, enlarged penis, and hyperpigmentation of scrotum of genetically male infants. In the present study, we reported 3 male cases from a Saudi family who presented with penile enlargem...

  4. Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative

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    Rink RichardC

    2010-11-01

    Full Text Available Patients with rare and complex diseases such as congenital adrenal hyperplasia (CAH often receive fragmented and inadequate care unless efforts are coordinated among providers. Translating the concepts of the medical home and comprehensive health care for individuals with CAH offers many benefits for the affected individuals and their families. This manuscript represents the recommendations of a 1.5 day meeting held in September 2009 to discuss the ideal goals for comprehensive care centers for newborns, infants, children, adolescents, and adults with CAH. Participants included pediatric endocrinologists, internal medicine and reproductive endocrinologists, pediatric urologists, pediatric surgeons, psychologists, and pediatric endocrine nurse educators. One unique aspect of this meeting was the active participation of individuals personally affected by CAH as patients or parents of patients. Representatives of Health Research and Services Administration (HRSA, New York-Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC, and National Newborn Screening and Genetics Resource Center (NNSGRC also participated. Thus, this document should serve as a "roadmap" for the development phases of comprehensive care centers (CCC for individuals and families affected by CAH.

  5. Laparoscopic-assisted vaginal pull-through: A new approach for congenital adrenal hyperplasia patients with high urogenital sinus

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    Jacques Birraux

    2015-01-01

    Full Text Available Background: To open vaginal cavity to the pelvic floor is part of surgical treatment for urogenital sinus (UGS in girls with congenital adrenal hyperplasia (CAH. For high UGS, this operative procedure can be challenging and may jeopardise urinary continence. Combined perineal and laparoscopic approaches could be useful to minimise perineal dissection and to facilitate the vaginal lowering. Patients and Methods: We report the procedure of a laparoscopic-assisted vaginal pull-through for supra-sphincteric UGS in a 5-year-old girl with CAH. Laparoscopic dissection of the vagina from the posterior wall of the bladder and urethra, division of the confluence and vaginal pull-through to the perineum are described. Discussion: The technique is derived from laparoscopic-assisted treatment for high ano-rectal malformations. Compared with current procedures for treatment for high UGS, laparoscopic-assisted approach allows mobilising vagina with minimal dissection of perineum and complete preservation of urethra. Another major advantage is to provide a direct vision for dissection of the space between rectum and urethra prior to vaginal pull-through. Conclusion: Laparoscopic-assisted vaginal pull-through appears to be an interesting approach for high UGS in CAH patients, reducing dissection and risk of urinary incontinence. This new approach needs to be strengthened by other cases.

  6. A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy

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    Mohammad A. Alqahtani

    2015-01-01

    Full Text Available Congenital adrenal hyperplasia (CAH due to steroid 11β-hydroxylase deficiency is the second most common form of CAH, resulting from a mutation in the CYP11B1 gene. Steroid 11β-hydroxylase deficiency results in excessive mineralcorticoids and androgen production leading to hypertension, precocious puberty with acne, enlarged penis, and hyperpigmentation of scrotum of genetically male infants. In the present study, we reported 3 male cases from a Saudi family who presented with penile enlargement, progressive darkness of skin, hypertension, and cardiomyopathy. The elder patient died due to heart failure and his younger brothers were treated with hydrocortisone and antihypertensive medications. Six months following treatment, cardiomyopathy disappeared with normal blood pressure and improvement in the skin pigmentation. The underlying molecular defect was investigated by PCR-sequencing analysis of all coding exons and intron-exon boundary of the CYP11B1 gene. A novel biallelic mutation c.780 G>A in exon 4 of the CYP11B1 gene was found in the patients. The mutation created a premature stop codon at amino acid 260 (p.W260∗, resulting in a truncated protein devoid of 11β-hydroxylase activity. Interestingly, a somatic mutation at the same codon (c.779 G>A, p.W260∗ was reported in a patient with papillary thyroid cancer (COSMIC database. In conclusion, we have identified a novel nonsense mutation in the CYP11B1 gene that causes classic steroid 11β-hydroxylase deficient CAH. Cardiomyopathy and cardiac failure can be reversed by early diagnosis and treatment.

  7. A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy.

    Science.gov (United States)

    Alqahtani, Mohammad A; Shati, Ayed A; Zou, Minjing; Alsuheel, Ali M; Alhayani, Abdullah A; Al-Qahtani, Saleh M; Gilban, Hessa M; Meyer, Brain F; Shi, Yufei

    2015-01-01

    Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency is the second most common form of CAH, resulting from a mutation in the CYP11B1 gene. Steroid 11β-hydroxylase deficiency results in excessive mineralcorticoids and androgen production leading to hypertension, precocious puberty with acne, enlarged penis, and hyperpigmentation of scrotum of genetically male infants. In the present study, we reported 3 male cases from a Saudi family who presented with penile enlargement, progressive darkness of skin, hypertension, and cardiomyopathy. The elder patient died due to heart failure and his younger brothers were treated with hydrocortisone and antihypertensive medications. Six months following treatment, cardiomyopathy disappeared with normal blood pressure and improvement in the skin pigmentation. The underlying molecular defect was investigated by PCR-sequencing analysis of all coding exons and intron-exon boundary of the CYP11B1 gene. A novel biallelic mutation c.780 G>A in exon 4 of the CYP11B1 gene was found in the patients. The mutation created a premature stop codon at amino acid 260 (p.W260 (∗) ), resulting in a truncated protein devoid of 11β-hydroxylase activity. Interestingly, a somatic mutation at the same codon (c.779 G>A, p.W260 (∗) ) was reported in a patient with papillary thyroid cancer (COSMIC database). In conclusion, we have identified a novel nonsense mutation in the CYP11B1 gene that causes classic steroid 11β-hydroxylase deficient CAH. Cardiomyopathy and cardiac failure can be reversed by early diagnosis and treatment. PMID:26265915

  8. Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ.

    Science.gov (United States)

    Walker, A P; Fowkes, R C; Saleh, F; Kim, S-H; Wilkinson, P; Cabrera-Sharp, V; Talmud, P J; Humphries, S E; Looijenga, L H J; Bouloux, P M G

    2012-01-01

    There have been few testicular histology reports of adult patients with congenital adrenal hypoplasia/hypogonadal hypogonadism (AHC/HH), but Leydig cell hyperplasia has been observed, an indicator of the possibility of malignant transformation. We aimed to define the basis of AHC/HH in 4 pedigrees of different ethnic backgrounds. One patient was elected to have testicular biopsy which was examined for evidence of carcinoma in situ (CIS). NR0B1 mutation analysis was performed by sequence analysis. NR0B1 expression was investigated by RT-PCR. Testicular biopsy sections were stained with HE or immunostained for OCT3/4, an established marker of CIS. We identified NR0B1 variants in the 4 AHC pedigrees: pedigree 1 (United Arab Emirates), c.1130A>G predicting p.(Glu377Gly); pedigree 2 (English Caucasian), c.327C>A predicting p.(Cys109*); pedigree 3 (Oman), a 6-bp deletion of a direct repeat, c.857_862delTGGTGC predicting p.(Leu286_Val287del); pedigree 4 (English Caucasian), c.1168+1G>A, a regulatory variant within the NR0B1 splice donor site. This last male patient, aged 30 years, presented with evidence of HH but incomplete gonadotrophin deficiency, following an earlier diagnosis of Addison's disease at 3 years. Hormonal therapy induced virilisation. Testicular biopsy was performed. The c.1168+1G>A variant abrogated normal splicing of testicular mRNA. Histological examination showed poorly organised testicular architecture and absence of spermatozoa. Morphological analyses and the absence of immunohistochemical staining for OCT3/4 excluded the presence of malignant germ cell cancer and its precursor lesion, CIS. These studies add to the knowledge of the types and ethnic diversity of NR0B1 mutations and their associated phenotypes, and provide insight into the assessment and interpretation of testicular histology in AHC and HH. PMID:23018754

  9. SIMPLE VIRILIZING CONGENITAL ADRENAL HYPERPLASIA: Presentation in a Female Child with Genital Ambiguity undergoing Genitoplasty (A Case Report

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    A Nurhaen

    2012-09-01

    Full Text Available Objective: our objective was to display the presentation of simple virilizing Congenital Adrenal Hyperplasia (CAH with genital ambiguity and severe virilization of the external genitalia, influencing growth, height and weight, bone maturation, quality of life and hence undergoing genitoplasty. Surgical treatment was aimed to obtain a more natural psychological and sexual development and the type of surgical repair performed was tailored based on individual patient’s anatomy findings.Case: we report a case of a 3-year old female with simple virilizing CAH, diagnosed due to genital ambiguity, severe virilization, clitoromegaly, external genital pigmentation, precocious pubic hair, previously was under treatment with glucocorticoid replacement therapy for 2years since newborn and neglected due to discontinuing the hormonal treatment for one year duration, underwent several clinical studies including chromosomal study for sex determining, pelvic ultrasonography for internal anatomical details and bone age study for skeletal maturation, givenstress dose steroids pre-operatively and followed by genital reconstructive surgery (genitoplasty. A clitorectomy and labioplasty approach were performed. At time of surgery cystoscopy was carried out prior to the surgical repair.Results: Management of virilizing CAH child with ambiguous genitalia demands multidisciplinary and interdisciplinary approach. The team‘s major challenge is to use thefeasible means to make the least bad choice in order to select a gender able to match the individualidentity, social identity, and behavioral identity. Surgical option should be tailored, one stage surgery,at early age and performed according to the individual anatomy findings.

  10. Development of a low-serum medium for the production of monoclonal antibody against congenital adrenal hyperplasia by hybridoma culture.

    Science.gov (United States)

    Chua, Gek Kee

    2016-10-01

    Statistically designed experiments were used in developing a low-serum medium for the production of a diagnostic monoclonal antibody against congenital adrenal hyperplasia using hybridoma 192. A two-level half-fractional factorial design was used for screening six components (Minimum Essential Medium Eagle amino acids, 2-mercaptoethanol, ethanolamine, ferric citrate, zinc sulfate, and sodium selenite). The experimental design was then augmented to central composite design. The basal Dulbecco's modified Eagle's medium (DMEM; containing 4 mM L-glutamine, 1% antibiotic-antimycotic agent) supplemented with 0.4% by volume fetal bovine serum (FBS), 311.8 mM ferric citrate, 17.3 nM sodium selenite, and 4.5 mM zinc sulfate (LSD) was found to support the growth of the hybridoma. Specific cell growth rate in the LSD (0.033 ± 0.001/h) was slightly lower than in the control medium (i.e., basal DMEM supplemented with 2% FBS; 0.0045 ± 0.003/h). Nevertheless, the specific MAb production rate for LSD was higher (0.057 ± 0.015 pg/cell · h versus 0.004 ± 0.002 pg/cell · h in LSD and control, respectively). The antibody produced in the LSD showed high specificity and no cross-reactivity with the other structural resemblance's steroid hormones, revealing no structural changes owing to the new medium formulation developed. The new medium formulation effectively reduced the medium cost by up to 64.6%. PMID:26760282

  11. Hiperplasia supra-renal congênita por deficiência de 11-ß-hidroxilase Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

    Directory of Open Access Journals (Sweden)

    Ramires Tosatti Júnior

    2005-12-01

    Full Text Available Este artigo tem o objetivo de relatar o diagnóstico e a evolução clínica de um paciente de 15 anos portador de uma disfunção congênita da esteroideogênese adrenal, que pode apresentar-se como hipertensão arterial de diagnóstico muitas vezes tardio (adolescência, virilização ou formas perdedoras de sal (nascimento e infância.The objective of this article is to relate the diagnostic and clinical evolution of a 15 year old patient with a congenital adrenal steroidogenesis dysfunction that can present as hypertension diagnosed later in life (adolescence, virilization or salt wasting (birth and childhood.

  12. Review of Outcome Information in 46,XX Patients with Congenital Adrenal Hyperplasia Assigned/Reared Male: What Does It Say about Gender Assignment?

    Directory of Open Access Journals (Sweden)

    Lee PeterA

    2010-12-01

    Full Text Available There is ample historical verification of 46,XX congenital adrenal hyperplasia (CAH patients being born with essentially male genitaliawhile outcome information is scant. Prior to glucocorticoid therapy, most patients died very young from adrenal insufficiency. Most available reports from laterchildhood, contain little information concerning sexual identity. Reports on older individuals lack adequate information about sexual identity and quality of life. The difficulty in assessing the relative impact of multiple dynamic environmental factors on the development of sexual identity, self- and body esteem and overall adjustment to life is clear. Nevertheless, it remains unclear whether those infants whose masculine genitalia at birth resulted in an initial male assignment would have enjoyed a better adult outcome had they been allowed to remain male rather than the female reassignment that most received. Further, one could ask whether a male sex of rearing should be considered in 46,XX CAH infants with male external genitalia. After reviewing available literature, we conclude that because those extremely virlized 46,XX CAH patients who were reared male with healthy social support demonstrated satisfactory levels of social and sexual function as adults a male sex assignment should be considered in these types of infants when social and cultural environment are supportive.

  13. Review of Outcome Information in 46,XX Patients with Congenital Adrenal Hyperplasia Assigned/Reared Male: What Does It Say about Gender Assignment?

    Science.gov (United States)

    Lee, Peter A; Houk, Christopher P

    2010-01-01

    There is ample historical verification of 46,XX congenital adrenal hyperplasia (CAH) patients being born with essentially male genitaliawhile outcome information is scant. Prior to glucocorticoid therapy, most patients died very young from adrenal insufficiency. Most available reports from laterchildhood, contain little information concerning sexual identity. Reports on older individuals lack adequate information about sexual identity and quality of life. The difficulty in assessing the relative impact of multiple dynamic environmental factors on the development of sexual identity, self- and body esteem and overall adjustment to life is clear. Nevertheless, it remains unclear whether those infants whose masculine genitalia at birth resulted in an initial male assignment would have enjoyed a better adult outcome had they been allowed to remain male rather than the female reassignment that most received. Further, one could ask whether a male sex of rearing should be considered in 46,XX CAH infants with male external genitalia. After reviewing available literature, we conclude that because those extremely virlized 46,XX CAH patients who were reared male with healthy social support demonstrated satisfactory levels of social and sexual function as adults a male sex assignment should be considered in these types of infants when social and cultural environment are supportive. PMID:21197442

  14. Brain magnetic resonance imaging findings in adult patients with congenital adrenal hyperplasia: Increased frequency of white matter impairment and temporal lobe structures dysgenesis

    Directory of Open Access Journals (Sweden)

    Mouna Feki Mnif

    2013-01-01

    Full Text Available Background: Congenital adrenal hyperplasia (CAH is an inherited recessive disorder of adrenal steroidogenesis. The enzymes most commonly affected are 21-hydroxylase. Past reports suggested brain magnetic resonance imaging (MRI abnormalities in CAH patients, affecting white matter signal, temporal lobe and amygdala structure and function. Aims: In the present study, we aimed to investigate the frequency of white matter changes and temporal lobes structures dysgenesis in a population of patients having CAH due to 21-hydroxylase deficiency. Materials and Methods: Neurological examination and brain MRI were performed in 26 patients. Results: Neurological examination revealed mental retardation in three patients, tremor in two patients, tendon reflexes asymmetry in one patient, and cerebellar syndrome in one patient. Eleven patients (42.3% showed MRI abnormalities: Eight of them had white matter hyperintensities, one patient had moderate atrophy in the right temporal, and hippocampal dysgenesis was found in the remaining two patients. Conclusions: Brain MRI abnormalities in CAH patients include white matter hyperintensities and temporal lobe structures dysgenesis. The mechanisms involved seem related to hormonal imbalances during brain development and exposure to excess exogenous glucocorticoids. Clinical implications of such lesions remain unclear. More extensive studies are required to define better the relationships between brain involvement and different CAH phenotypes and treatment regimens.

  15. Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene.

    Science.gov (United States)

    Zhang, Zhe; Feng, Ye; Ye, Dan; Li, Cheng-jiang; Dong, Feng-qin; Tong, Ying

    2015-11-01

    Congenital X-linked adrenal hypoplasia (AHC) is a rare disease characterized by primary adrenal insufficiency before adolescence and by hypogonadotropic hypogonadism (HHG) during adolescence. In this paper, we present a Chinese family with AHC. Two brothers, misdiagnosed with adrenal insufficiency of unknown etiology at the age of 9, were correctly diagnosed with AHC when delayed puberty, HHG, and testicular defects were observed. We investigated the clinical features and identified the dosage-sensitive sex reversal AHC critical region of the X chromosome gene 1 (DAX-1) mutation in this kindred. Direct sequencing of the DAX-1 gene revealed that the two siblings have a novel mutation (1268delA) of which their mother is a heterozygous carrier. This mutation causes a frameshift and a premature stop codon at position 436, encoding a truncated protein. It is important to increase knowledge of the mutational spectrum in genes related to this disease, linking phenotype to genotype. PMID:26537215

  16. Genetic Causes in Adrenal or Ovarian Hyperandrogenism in the Reproductive Years

    OpenAIRE

    Bals-Pratsch M; Seifert B; Ortmann O

    2009-01-01

    Hyperandrogenism and androgenisation frequently occur within families so that a monogenic cause such as congenital adrenal hyperplasia (CAH) must be considered. For the most part, classical CAH is first diagnosed and treated on the basis of common sex development disorders in early childhood by pediatric endocrinologists. In contrast, the non-classic "late-onset CAH" is mostly symptomatic by androgenisation from the age of puberty. For both forms, the final diagnosis relies on the evidence...

  17. Gonadal development and growth in 46,XX and 46,XY individuals with P450scc deficiency (congenital lipoid adrenal hyperplasia)

    DEFF Research Database (Denmark)

    Müller, J; Torsson, A; Damkjaer Nielsen, M;

    1991-01-01

    pathology. Gonadectomy was performed in the 2 surviving 46,XY individuals at the age of 7 years, and histological examination showed normal testicular morphology but very few germ cells. Postmortem examination of the testes of the 2-month-old subject showed normal testicular histology, and quantitative...... normal breast and pubic hair development after oral estrogen replacement and topical testosterone administration. The glucocorticoid and mineralocorticoid replacement was adjusted in accordance with repeated measurements of serum sodium and serum potassium, plasma renin concentration and blood pressure......We have investigated gonadal development and growth in 4 individuals (3 with 46,XY and 1 with 46,XX karyotype) with P450scc deficiency. One patient died at 2 months of age from adrenal insufficiency, while the remaining 3 individuals were healthy and developed normally (age at follow-up: 18, 10...

  18. Congenital adrenal hyperplasia and disorders of sex development%先天性肾上腺增生症与性发育异常

    Institute of Scientific and Technical Information of China (English)

    张惠杰; 李小英

    2011-01-01

    先天性肾上腺增生症是引起性发育异常最常见的病因,包括46,XX和46,XY性发育障碍.随着遗传学和分子生物学进展,人们对其发病机制以及基因型和表型之间关系的认识不断深入.本文从性别决定和性发育过程阐述先天性肾上腺增生症的临床特征和发生机制.%Congenital adrenal hyperplasia (CAH) is the most common cause leading to disorders of sex development (DSD) such as 46, XX and 46, XY.Along with the advances in genetics and molecular biology, knowledge on pathogenesis and correlation between genotype and phenotype of CAH has been growing.This study has shed light on the clinical features and pathogenesis of CAH based on sexual differentiation and sexual development.

  19. The human peripheral benzodiazepine receptor gene: Cloning and characterization of alternative splicing in normal tissues and in a patient with congenital lipoid adrenal hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    Lin, D.; Miller, W.L. (Univ. of California, San Francisco, CA (United States)); Chang, Y.J.; Strauss, J.F. III (Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States))

    1993-12-01

    The mitochondrial benzodiazepine receptor (mBzR) appears to be a key factor in the flow of cholesterol into mitochondia to permit the initiation of steroid hormone synthesis. The mBzR consists of three components; the 18-kDa component on the outer mitochondrial membrane appears to contain the benzodiazepine binding site, and is hence often termed the peripheral benzodiazepine receptor (PBR). Using a cloned human PBR cDNA as probe, the authors have cloned the human PBR gene. The 13-kb gene is divided into four exons, with exon 1 encoding only a short 5[prime] untranslated segment. The 5[prime] flanking DNA lacks TATA and CAAT boxes but contains a cluster of SP-1 binding sites, typical of [open quotes]housekeeping[close quotes] genes. The encoded PBR mRNA is alternately spliced into two forms: [open quotes]authentic[close quotes] PBR mRNA retains all four exons, while a short form termed PBR-S lacks exon 2. While PBR-S contains a 102-codon open reading frame with a typical initiator sequence, the reading frame differs from that of PBR, so that the encoded protein is unrelated to PBR. RT-PCR and RNase protection experiments confirm that both PBR and PBR-S are expressed in all tissues examined and that expression of PBR-S is about 10 times the level of PBR. Expression of PBR cDNA in pCMV5 vectors transfected into COS-1 cells resulted in increased binding of [[sup 3]H]PK11195, but expression of PBR-S did not. It has been speculated that patients with congenital lipoid adrenal hyperplasia, who cannot make any steroids, might have a genetic lesion in mBzR. RT-PCR analysis of testicular RNA from such a patient, sequencing of the cDNA, and blotting analysis of genomic DNA all indicate that the gene and mRNA for the PBR component of mBzR are normal in this disease. 36 refs., 6 figs.

  20. Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.

    Science.gov (United States)

    Nguyen, Huy-Hoang; Eiden-Plach, Antje; Hannemann, Frank; Malunowicz, Ewa M; Hartmann, Michaela F; Wudy, Stefan A; Bernhardt, Rita

    2016-01-01

    Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder of steroidogenesis. Steroid 11β-hydroxylase deficiency (11β-OHD) due to mutations in the CYP11B1 gene is the second most common form of CAH. In this study, 6 patients suffering from CAH were diagnosed with 11β-OHD using urinary GC-MS steroid metabolomics analysis. The molecular basis of the disorder was investigated by molecular genetic analysis of the CYP11B1 gene, functional characterization of splicing and missense mutations, and analysis of the missense mutations in a computer model of CYP11B1. All patients presented with abnormal clinical signs of hyperandrogenism. Their urinary steroid metabolomes were characterized by excessive excretion rates of metabolites of 11-deoxycortisol as well as metabolites of 11-deoxycorticosterone, and allowed definite diagnosis. Patient 1 carries compound heterozygous mutations consisting of a novel nonsense mutation p.Q102X (c.304C>T) in exon 2 and the known missense mutation p.T318R (c.953C>G) in exon 5. Two siblings (patient 2 and 3) were compound heterozygous carriers of a known splicing mutation c.1200+1G>A in intron 7 and a known missense mutation p.R448H (c.1343G>A) in exon 8. Minigene experiments demonstrated that the c.1200+1G>A mutation caused abnormal pre-mRNA splicing (intron retention). Two further siblings (patient 4 and 5) were compound heterozygous carriers of a novel missense mutation p.R332G (c.994C>G) in exon 6 and the known missense mutation p.R448H (c.1343G>A) in exon 8. A CYP11B1 activity study in COS-1 cells showed that only 11% of the enzyme activity remained in the variant p.R332G. Patient 6 carried a so far not described homozygous deletion g.2470_5320del of 2850 bp corresponding to a loss of the CYP11B1 exons 3-8. The breakpoints of the deletion are embedded into two typical 6 base pair repeats (GCTTCT) upstream and downstream of the gene. Experiments analyzing the influence of mutations on splicing and on enzyme

  1. A new compound heterozygous frameshift mutation in the type II 3{beta}-hydroxysteroid dehydrogenase 3{beta}-HSD gene causes salt-wasting 3{beta}-HSD deficiency congenital adrenal hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, L.; Sakkal-Alkaddour, S.; Chang, Ying T.; Yang, Xiaojiang; Songya Pang [Univ. of Illinois, Chicago, IL (United States)

    1996-01-01

    We report a new compound heterozygous frameshift mutation in the type II 3{Beta}-hydroxysteroid dehydrogenase (3{beta}-HSD) gene in a Pakistanian female child with the salt-wasting form of 3{Beta}-HSD deficiency congenital adrenal hyperplasia. The etiology for her congenital adrenal hyperplasia was not defined. Although the family history suggested possible 3{beta}-HSd deficiency disorder, suppressed adrenal function caused by excess glucocorticoid therapy in this child at 7 yr of age did not allow hormonal diagnosis. To confirm 3{beta}-HSD deficiency, we sequenced the type II 3{beta}-HSD gene in the patient, her family, and the parents of her deceased paternal cousins. The type II 3{beta}-HSD gene region of a putative promotor, exons I, II, III, and IV, and exon-intron boundaries were amplified by PCR and sequenced in all subjects. The DNA sequence of the child revealed a single nucleotide deletion at codon 318 [ACA(Thr){r_arrow}AA] in exon IV in one allele, and two nucleotide deletions at codon 273 [AAA(Lys){r_arrow}A] in exon IV in the other allele. The remaining gene sequences were normal. The codon 318 mutation was found in one allele from the father, brother, and parents of the deceased paternal cousins. The codon 273 mutation was found in one allele of the mother and a sister. These findings confirmed inherited 3{beta}-HSD deficiency in the child caused by the compound heterozygous type II 3{beta}-HSD gene mutation. Both codons at codons 279 and 367, respectively, are predicted to result in an altered and truncated type II 3{beta}-HSD protein, thereby causing salt-wasting 3{beta}-HSD deficiency in the patient. 21 refs., 2 figs., 1 tab.

  2. Adrenal insufficiency.

    Science.gov (United States)

    Li-Ng, Melissa; Kennedy, Laurence

    2012-10-01

    Adrenocortical insufficiency may arise through primary failure of the adrenal glands or due to lack of ACTH stimulation as a result of pituitary or hypothalamic dysfunction. Prolonged administration of exogenous steroids will suppress the hypothalamic-pituitary-adrenal axis, and hence cortisol secretion. We review briefly the causes, investigation, and treatment of adrenal insufficiency, and highlight aspects of particular relevance to patients with adrenal tumors.

  3. Progress in the diagnosis and treatment of congenital adrenal hyperplasia%先天性肾上腺皮质增生症的诊断和治疗进展

    Institute of Scientific and Technical Information of China (English)

    梁玲

    2014-01-01

    先天性肾上腺皮质增生症属常染色体隐性遗传病,最常见的酶缺陷为21-羟化酶缺乏,占本病的90%以上.该病影响皮质醇有效合成,使促肾上腺皮质激素过多分泌,导致肾上腺皮质增生和雄性激素增多.先天性肾上腺皮质增生症引起女性出生时假两性畸形及儿童生长加速等.失盐型临床表现最严重,醛固酮严重缺乏者可出现肾上腺危象危及生命.新生儿筛查尤其是男婴的筛查可减少肾上腺危象的发病率及病死率.糖皮质激素替代治疗仍然是最根本的治疗手段,然而如何制定合适的治疗方案对儿科医师而言仍为一项挑战.%Congenital adrenal hyperplasia(CAH) is a family of autosomal recessive disorders.The most frequent form of the disease is steroid 21-hydroxylase deficiency,which accounts for more than 90% of all cases of CAH.In the pathogenesis of CAH,the cortisol synthesis impairement leads to excessive ACTH secretion of the adrenal glands,which ultimately results in adrenal hyperplasia and androgen overproduction.CAH causes signs of androgen excess including ambiguous genitalia in newborn females and rapid postnatal growth in both sexes.In the most severe " salt wasting" form of CAH,concomitant aldosterone deficiency may lead to salt wasting with life-threatening adrenal crises.Newborn screening,especially in males,reduces morbidity and mortality from adrenal crises.Glucocorticoid replacement remains the cornerstone of treatment.However,how to make a suitable therapeutic regimen of CAH is still a challenge to the pediatric clinician.

  4. Adrenal scintigraphy

    International Nuclear Information System (INIS)

    The exact localization of adrenal lesions can be achieved by noninvasive procedures. Whereas radiological methods reflect morphological changes, scintigraphy of adrenal cortex and medulla depends on function. - Radiolabeled 6β-methyl-19-norcholesterol is used for adrenocortical scintigraphy in primary aldosteronism, Cushing's syndrome and hyperandrogenism. By dexamethasone suppression a correct classification of adrenocortical lesions by scintigraphy can be observed in about 89% with a specificity of 86%. 123-I- and 131-I-metaiodobenzylguanidine is used for specific scintigraphy of the adrenal medulla. This method is a safe and reliable method for localization of adrenal and extraadrenal pheochromocytomas. (orig.)

  5. Adrenal scintigraphy

    Energy Technology Data Exchange (ETDEWEB)

    Fischer, M.; Vetter, H.

    1986-04-01

    The exact localization of adrenal lesions can be achieved by noninvasive procedures. Whereas radiological methods reflect morphological changes, scintigraphy of adrenal cortex and medulla depends on function. - Radiolabeled 6..beta..-methyl-19-norcholesterol is used for adrenocortical scintigraphy in primary aldosteronism, Cushing's syndrome and hyperandrogenism. By dexamethasone suppression a correct classification of adrenocortical lesions by scintigraphy can be observed in about 89% with a specificity of 86%. 123-I- and 131-I-metaiodobenzylguanidine is used for specific scintigraphy of the adrenal medulla. This method is a safe and reliable method for localization of adrenal and extraadrenal pheochromocytomas.

  6. Adrenal Insufficiency

    Science.gov (United States)

    ... three types of steroid hormones. In adrenal insufficiency (AI), the cortex does not make enough steroid hormones. ... unlike “adrenal fatigue.” There are two kinds of AI: • Primary AI, also called Addison’s disease. In this ...

  7. Adrenal scintigraphy

    International Nuclear Information System (INIS)

    The following items are discussed:anatomy and physiology of adrenal glands, clinical indications of scintigraphy, radiobiology and radiochemistry, scintigraphic imaging, adrenocortical hyperfunction, aldosteronism and hypertension associated with low renin level, excess of androgen, adrenocortical hyperfunction and future perspectives of adrenal scintigraphy. (M.A.)

  8. Adrenal incidentaloma

    Directory of Open Access Journals (Sweden)

    Arnaldi G.

    2000-01-01

    Full Text Available Incidentally discovered adrenal masses, or adrenal incidentalomas, have become a common clinical problem owing to wide application of radiologic imaging techniques. This definition encompasses a heterogeneous spectrum of pathologic entities, including primary adrenocortical and medullary tumors, benign or malignant lesions, hormonally active or inactive lesions, metastases, and infections. Once an adrenal mass is detected, the clinician needs to address two crucial questions: is the mass malignant, and is it hormonally active? This article provides an overview of the diagnostic clinical approach and management of the adrenal incidentaloma. Mass size is the most reliable variable to distinguish benign and malignant adrenal masses. Adrenalectomy should be recommended for masses greater than 4.0 cm because of the increased risk of malignancy. Adrenal scintigraphy has proved useful in discriminating between benign and malignant lesions. Finally, fine-needle aspiration biopsy is an important tool in the evaluation of oncological patients and it may be useful in establishing the presence of metastatic disease. The majority of adrenal incidentalomas are non-hypersecretory cortical adenomas but an endocrine evaluation can lead to the identification of a significant number of cases with subclinical Cushing's syndrome (5-15%, pheochromocytoma (1.5-13% and aldosteronoma (0-7%. The first step of hormonal screening should include an overnight low dose dexamethasone suppression test, the measure of urinary catecholamines or metanephrines, serum potassium and, in hypertensive patients, upright plasma aldosterone/plasma renin activity ratio. Dehydroepiandrosterone sulfate measurement may show evidence of adrenal androgen excess.

  9. Adrenal haemorrhage with cholestasis and adrenal crisis in a newborn of a diabetic mother.

    Science.gov (United States)

    Koklu, Esad; Kurtoglu, Selim; Akcakus, Mustafa; Koklu, Selmin

    2007-03-01

    The large hyperaemic foetal adrenal gland is vulnerable to vascular damage. This may occur in the neonatal period as a consequence of difficult labour, or its aetiology may not be apparent. The spectrum of presentation is considerable, ranging from asymptomatic to severe life-threatening intra-abdominal haemorrhage. The presentation of adrenal insufficiency may be delayed but the regenerative capacity of the adrenal is great, and most adrenal haemorrhage is not associated with significantly impaired function. Some reports showed that cholestatic hepatopathy with congenital hypopituitarism reversed by hydrocortisone treatment is considered in the context of the endocrine syndrome, probably as a consequence of the adrenal failure. We describe a case of bilateral adrenal haemorrhage with hepatitis syndrome and persistent hypoglycaemia in a newborn male with striking features of neonatal cholestasis and adrenal crisis.

  10. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

    Science.gov (United States)

    Zaharieva, Irina T; Thor, Michael G; Oates, Emily C; van Karnebeek, Clara; Hendson, Glenda; Blom, Eveline; Witting, Nanna; Rasmussen, Magnhild; Gabbett, Michael T; Ravenscroft, Gianina; Sframeli, Maria; Suetterlin, Karen; Sarkozy, Anna; D'Argenzio, Luigi; Hartley, Louise; Matthews, Emma; Pitt, Matthew; Vissing, John; Ballegaard, Martin; Krarup, Christian; Slørdahl, Andreas; Halvorsen, Hanne; Ye, Xin Cynthia; Zhang, Lin-Hua; Løkken, Nicoline; Werlauff, Ulla; Abdelsayed, Mena; Davis, Mark R; Feng, Lucy; Phadke, Rahul; Sewry, Caroline A; Morgan, Jennifer E; Laing, Nigel G; Vallance, Hilary; Ruben, Peter; Hanna, Michael G; Lewis, Suzanne; Kamsteeg, Erik-Jan; Männikkö, Roope; Muntoni, Francesco

    2016-03-01

    Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological features on muscle biopsy. The phenotype ranges from foetal akinesia resulting in in utero or neonatal mortality, to milder disorders that are not life-limiting. Over the past decade, more than 20 new congenital myopathy genes have been identified. Most encode proteins involved in muscle contraction; however, mutations in ion channel-encoding genes are increasingly being recognized as a cause of this group of disorders. SCN4A encodes the α-subunit of the skeletal muscle voltage-gated sodium channel (Nav1.4). This channel is essential for the generation and propagation of the muscle action potential crucial to muscle contraction. Dominant SCN4A gain-of-function mutations are a well-established cause of myotonia and periodic paralysis. Using whole exome sequencing, we identified homozygous or compound heterozygous SCN4A mutations in a cohort of 11 individuals from six unrelated kindreds with congenital myopathy. Affected members developed in utero- or neonatal-onset muscle weakness of variable severity. In seven cases, severe muscle weakness resulted in death during the third trimester or shortly after birth. The remaining four cases had marked congenital or neonatal-onset hypotonia and weakness associated with mild-to-moderate facial and neck weakness, significant neonatal-onset respiratory and swallowing difficulties and childhood-onset spinal deformities. All four surviving cohort members experienced clinical improvement in the first decade of life. Muscle biopsies showed myopathic features including fibre size variability, presence of fibrofatty tissue of varying severity, without specific structural abnormalities. Electrophysiology suggested a myopathic process, without myotonia. In vitro functional assessment in HEK293 cells of the impact of the identified SCN4A

  11. Adrenal scintigraphy

    International Nuclear Information System (INIS)

    The visualization of functioning adrenocortical tissue by scintigraphy became possible with the introduction of radioiodinated cholesterol derivatives. According to the literature, there is evidence that one of these iodinated cholesterols, 6-β-iodomethyl-nor-cholesterol, concentrates in the adrenal cortex to a much greater extent than 131I-19-odocholesterol. Results comparing both radiopharmaceuticals are described. The authors investigated the possibility of increasing the uptake of iodinated cholesterol using simultaneous ACTH and the 'cholesterol side-chain cleavage enzymeblocker': aminoglutethimide. The results of adrenal scintigraphy performed in 37 patients are described. Finally, the literature on adrenal scintigraphy is reviewed, and results reported in various studies are compared. (Auth.)

  12. Reconstrucción genital integral en la Hiperplasia Suprarrenal Congénita: sensibilidad, estética y función (embarazo Integral genital reconstruction: sensitivity, aesthetic and function (pregnancy, in the Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    A.A. Núñez Serrano

    2010-03-01

    Full Text Available La Hiperplasia Suprarrenal Congénita o Síndrome Adrenogenital es un cuadro clínico poco frecuente. Las anomalías que presenta van asociadas a síndromes que a veces son muy complejos, destacando, entre otros, el seudohermafroditismo femenino y el hermafroditismo verdadero. Las mujeres que la padecen presentan como alteración más evidente un clítoris aumentado de tamaño (megaloclítoris y otras alteraciones en los genitales externos. Ante estas pacientes es necesario realizar un diagnostico correcto mediante exploración física y otras pruebas complementarias: estudios genéticos, analíticos, hematológicos y urinarios. La corrección quirúrgica del megaloclítoris es necesaria no sólo para mejorar el aspecto de los genitales externos, sino también para que tanto la paciente como su familia se encuentren menos afectados psicológicamente. Existen varias técnicas quirúrgicas que intentan corregir esta malformación, como la amputación o clitorectomía total, la retroposición o enterramiento y la clitorectomía parcial selectiva. Todas ellas, junto con otras correcciones de los genitales externos afectados, han sido utilizadas hasta el día de hoy. Presentamos el caso de una paciente con Hiperplasia Suprarrenal Congénita por déficit del enzima 21-hidroxilasa. Describimos su clínica, la técnica quirúrgica aplicada en su caso y, sobre todo, dado la rareza de esta patología, comunicamos que, tras dos embarazos, los dos hijos nacidos, no presentaron la alteración congénita materna.Congenital Adrenal Hyperplasia is a rare patology, whith clinical expressions like female pseudohermaphroditism or true hermaphroditism. Females affected mainly suffer clitoral hypertrophy and external genitalia abnormalityes. The complete diagnosis includes: careful examination of the genitals, complementary imaging proofs, hormonal and genetic testing. The surgical correction of the external genitals and megaloclitoris improves the physical and

  13. How Do Health Care Providers Diagnose Adrenal Gland Disorders?

    Science.gov (United States)

    ... visual field (the area visible at a given instant without moving the eyes) or a magnetic resonance ... from http://www.urologyhealth.org/urology/index.cfm?article=89 [top] The Endocrine Society. (2010). Congenital adrenal ...

  14. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy

    DEFF Research Database (Denmark)

    Zaharieva, Irina T; Thor, Michael G; Oates, Emily C;

    2016-01-01

    of disorders. SCN4A encodes the α-subunit of the skeletal muscle voltage-gated sodium channel (Nav1.4). This channel is essential for the generation and propagation of the muscle action potential crucial to muscle contraction. Dominant SCN4A gain-of-function mutations are a well-established cause of myotonia......, severe muscle weakness resulted in death during the third trimester or shortly after birth. The remaining four cases had marked congenital or neonatal-onset hypotonia and weakness associated with mild-to-moderate facial and neck weakness, significant neonatal-onset respiratory and swallowing difficulties...... and childhood-onset spinal deformities. All four surviving cohort members experienced clinical improvement in the first decade of life. Muscle biopsies showed myopathic features including fibre size variability, presence of fibrofatty tissue of varying severity, without specific structural abnormalities...

  15. Analysis of 44 Cases of Congenital Adrenal Hyperplasia/21-Hydroxylase Deficiency%先天性肾上腺皮质增生症/21-羟化酶缺陷44例分析

    Institute of Scientific and Technical Information of China (English)

    万乃君; 汪伶伶; 王怡萍

    2011-01-01

    Objective To discuss the pathogenic,clinical characteristics,diagnosis and treatment progress of congenital adrenal hyperplasia (CAH)/21 - hydroxylase deficiency. Methods The retrospective research was based on the analysis on gender, age, family history, clinical characteristics,laboratory tests,treatment and prognosis of 44 cases of CAH/21 -hydroxylase deficiency in children treated in Children's Hospital Affiliated to Capital Institute of Pediatrics from May 2000 to Dec. 2009. Results Total 44 patients (23 male and 21 female) aged from 7 days to 14 years were included. Five cases of the patients had family history. All of the patients were showing hyperpigmentation and virilisation when diagnosed. The females were found to have enlarged clitoris. Some of the enlarged clitoris looked like penis,some also had inferior vigina fissure.Some patients had no vaginal orifice. Also some of the females had merged labium major with the appearance of scrotum. Meanwhile,the males were found to have enlarged penis and even to be associated with erection or spermatorrhea. The change of voice happened even at 3 - 5 years of age. The growth rate was sped up and therefore they were usually taller than their peers. According to the symptoms and whether being accompanied by hyporatremia, hyperkalemia and(or) acidosis,the included children were diagnosed as follows:17 simple -virilising cases,26 virilising and salt -wasting cases and a non- classical case. In addition, 17 -OH progesterone( 17 -OHP) and testosterone were increased in 40 cases and the rest of 4 cases were not tested. Forty - one cases were given corticosteroid treatment and developed normally. Nine serious salt - wasting cases were further treated with 9 - α - fludrocortisone as replacement. There were 3 cases that the patients quitted the treatment and died after discharged from the hospital. After hormone replacement therapy ,hyperpigmentation and virilisation were improved obviously. The children's sodium and

  16. [Adrenal mass and adrenal insufficiency].

    Science.gov (United States)

    Martínez Albaladejo, M; García López, B; Serrano Corredor, S; Alguacil García, G

    1996-12-01

    Primary adrenal insufficiency is a non frequent disease, that is declared in young adults and in the most of the cases is produced from an autoimmune mechanism or a tuberculous disease. The incidence of these forms in the different geographic areas is dependent of degree of irradication of the tuberculosis. We report the case of a patient with latent chronic adrenal insufficiency of tuberculous origin who was affected for an addisonian crisis during an intercurrent infectious disease, which permitted the diagnosis of the addisonian crisis, and Mal of Pott was moreover detected. Evolution with corticosteroid and specific treatment was very favorable.

  17. Bilateral adrenal hemorrhage and primary antiphospholipid antibody syndrome

    International Nuclear Information System (INIS)

    Bilateral adrenal hemorrhage is an uncommon entity that is difficult to diagnose given the ambiquity of the clinical signs. Computerized tomography plays a major role in the diagnosis, disclosing enlarged adrenal glands presenting the hyperdense aspect that characterizes this disorders. We present a case of bilateral adrenal hemoorrhage in a patient diagnosed as having primary antiphospholipid antibody syndrome, which is a less common cause of adrenal hemorrhage than those classically reported, such as anticoagulant therapy, sepsis, shock and abdominal injury. (Author) 8 refs

  18. 先天性肾上腺皮质增生症21-羟化酶缺陷患者并发卵巢肾上腺残余瘤的临床特征分析%Characterization of ovarian adrenal rest tumors in children and adolescent females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

    Institute of Scientific and Technical Information of China (English)

    苏喆; 李燕虹; 马华梅; 张军; 杜敏联

    2016-01-01

    目的 总结先天性肾上腺皮质增生症(CAH) 21-羟化酶缺陷(21-OHD)女性患者合并卵巢肾上腺残余瘤(OART)的临床特征.方法 回顾性分析2010年1月至2015年1月中山大学第一医院儿科内分泌专科诊断的4例合并OART的CAH21-OHD患者临床症状、生长及骨龄进展、血清类固醇激素水平、影像学检查结果、OART术后随诊情况.结果 4例OART占同期本专科女性CAH的2.5%,同期男性CAH睾丸肾上腺残余瘤检出率为29.5%.失盐型3例,单纯男性化型1例.OART诊断年龄分别在8岁11月龄、15岁10月龄、21岁5月龄和9岁4月龄.OART诊断前患儿的氢化可的松用量16~24 mg/(m2·d),临床表现有痤疮增多、嗓音低沉、闭经(2例),未达成年身高者伴生长加速,骨龄进展与年龄进展比值分别达1.2(促性腺激素释放激素类似物治疗中)和2.0,血清相关类固醇激素水平均显著增高,均伴肾上腺过度增生.仅1例术前经盆腔彩超及MRI诊断OART,余3例在拟行单侧肾上腺次全切除时发现病灶并予切除.OART术后随诊时间分别为:4年10个月、4年9个月、3年10个月和2年9个月,氢化可的松用量降至14~19 mg/(m2·d),原控制不佳状态获不同程度改善.结论 女性CAH患者肾上腺残余瘤发病率显著低于男性,OART诊断前患儿有男性化表现加重、生长和骨龄进展加速、血清相关激素水平增高和肾上腺过度增生等.手术切除OART可不同程度地改善原高雄激素控制不佳状态.%Objective To summarize the characterization of ovarian adrenal rest tumors (OART) in children and adolescent females with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD).Method We have diagnosed 4 cases of CAH 21-OHD with OART in the recent 5 years in pediatric endocrinology unit of the first affiliated hospital of Sun Yat-Sen University.Clinical characterizations were summarized,including symptoms,growth patterns and bone age advancements

  19. Adrenal Insufficiency and Addison's Disease

    Science.gov (United States)

    ... What is adrenal insufficiency? Adrenal insufficiency is an endocrine, or hormonal, disorder that occurs when the adrenal glands do not ... Top ] Points to Remember Adrenal insufficiency is an endocrine, or hormonal, disorder that occurs when the adrenal glands do not ...

  20. Adrenal cysts

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    @@ Ture cysts of the adrenal gland are lined with endothelium or epithe lium.Most lesions are asympomatic and are discovered incidentally.They may produce s ymptoms because of hemorrhage.CT findings of cysts include(Fig 1): ① Cyst are well-marginated, nonenhancing, homogeneous, fluid-cont aining masses; ② The wall may have thin peripheral calcification if previous hemor rhage has occurred.③ Cyst contents have characteristics of simple fluids(<20 HU)unle ss hemorrhage has occurred.

  1. A Rare Adrenal Incidentaloma: Adrenal Schwannoma

    OpenAIRE

    Adas, Mine; Ozulker, Filiz; Adas, Gokhan; Koc, Bora; Ozulker, Tamer; Sahin, Ilknur Mansuroglu

    2013-01-01

    Adrenal schwannoma is an extremely uncommon cause of incidentaloma. It originates from neural sheath Schwann cells of the adrenal gland. We report the case of a left adrenal schwannoma incidentally discovered in a 32-year-old woman during examination of bloated feeling and stomach ache. The patient was incidentally found to have a left adrenal mass of 9 cm on abdominal ultrasonography. Computed tomography (CT) of the abdomen and [18F] fluorodeoxyglucose positron emission tomography (PET) were...

  2. Laparoscopic Adrenal Gland Removal

    Science.gov (United States)

    ... adrenal tumors that appear malignant. What are the Advantages of Laparoscopic Adrenal Gland Removal? In the past, ... of procedure and the patients overall condition. Common advantages are: Less postoperative pain Shorter hospital stay Quicker ...

  3. Adrenal Gland Cancer

    Science.gov (United States)

    ... either benign or malignant. Benign tumors aren't cancer. Malignant ones are. Most adrenal gland tumors are ... and may not require treatment. Malignant adrenal gland cancers are uncommon. Types of tumors include Adrenocortical carcinoma - ...

  4. Evolving adrenal insufficiency

    OpenAIRE

    Ajitesh Roy; Rana Bhattacharjee; Soumik Goswami; Anubhav Thukral; S Chitra; Partha Pratim Chakraborty; Dayanidhi Meher; Sujoy Ghosh; Satinath Mukhopadhyay; Subhankar Chowdhury

    2012-01-01

    Introduction: Tuberculosis is the most common cause of Addison's disease in India. The exact status of adrenal reserve in tuberculosis is still an enigma and recovery of adrenal function is unpredictable. Objective: We report a case with a pre-Addisonian state and unchanged adrenal size after 1 year treatment. Materials and Methods: A 31-year patient with adrenal tuberculosis was diagnosed and treated with anti tubercular drugs (ATDs) and steroid. Results: A 31-year male, presented with fever...

  5. The agonistic adrenal: melatonin elicits female aggression via regulation of adrenal androgens.

    Science.gov (United States)

    Rendon, Nikki M; Rudolph, Lauren M; Sengelaub, Dale R; Demas, Gregory E

    2015-11-22

    Classic findings have demonstrated an important role for sex steroids as regulators of aggression, but this relationship is lacking within some environmental contexts. In mammals and birds, the adrenal androgen dehydroepiandrosterone (DHEA), a non-gonadal precursor of biologically active steroids, has been linked to aggression. Although females, like males, use aggression when competing for limited resources, the mechanisms underlying female aggression remain understudied. Here, we propose a previously undescribed endocrine mechanism regulating female aggression via direct action of the pineal hormone melatonin on adrenal androgens. We examined this in a solitary hamster species, Phodopus sungorus, in which both sexes are highly territorial across the seasons, and display increased aggression concomitant with decreased serum levels of sex steroids in short 'winter-like' days. Short- but not long-day females had increased adrenal DHEA responsiveness co-occurring with morphological changes in the adrenal gland. Further, serum DHEA and total adrenal DHEA content were elevated in short days. Lastly, melatonin increased DHEA and aggression and stimulated DHEA release from cultured adrenals. Collectively, these findings demonstrate that DHEA is a key peripheral regulator of aggression and that melatonin coordinates a 'seasonal switch' from gonadal to adrenal regulation of aggression by direct action on the adrenal glands.

  6. Disorders of adrenal development.

    Science.gov (United States)

    Ferraz-de-Souza, Bruno; Achermann, John C

    2008-01-01

    Human adrenal development is a complex and relatively poorly understood process. However, significant insight into some of the mechanisms regulating adrenal development and function is being obtained through the analysis of individuals and families with adrenal hypoplasia. Adrenal hypoplasia can occur: (1) secondary to defects in pituitary adrenocorticotropin (ACTH) synthesis, processing and release (secondary adrenal hypoplasia; e.g. HESX1, LHX4, SOX3, TPIT, pituitary POMC, PC1); (2) as part of several ACTH resistance syndromes (e.g. MC2R/ACTHR, MRAP, Alacrima, Achalasia, Addison disease), or as (3) a primary defect in the development of the adrenal gland itself (primary adrenal hypoplasia; e.g. DAX1/NR0B1 - dosage-sensitive sex reversal, adrenal hypoplasia congenita critical region on the X chromosome 1). Indeed, the X-linked form of primary adrenal hypoplasia due to deletions or mutations in the orphan nuclear receptor DAX1 occurs in around half of male infants presenting with a salt-losing adrenal crisis, where no obvious steroidogenic defect (e.g. 21-hydroxylase deficiency), metabolic abnormality (e.g. neonatal adrenoleukodystrophy) or physical cause (e.g. adrenal haemorrhage) is found. Establishing the underlying basis of adrenal failure can have important implications for investigating associated features, the likely long-term approach to treatment, and for counselling families about the risk of other children being affected.

  7. Congenital adrenal hyperplasia: Clinical characteristics and genotype in newborn, childhood and adolescence Hiperplasia suprarrenal congénita: Características clínicas, seguimiento y genotipo en la etapa perinatal, la niñez y la adolescencia

    Directory of Open Access Journals (Sweden)

    Titania Pasqualini

    2007-06-01

    Full Text Available Congenital adrenal hyperplasia (CAH due to 21-hydroxylase deficiency is a disorder which can adopt three clinical expressions: two classical forms -salt-wasting (SW, with residual enzymatic activity (EA La hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa presenta tres formas clínicas: dos clásicas, perdedora de sal, con actividad enzimática (AE < 1% y virilizante simple, con AE 1-2% y una no clásica, con AE 10-60%. Nuestro objetivo es describir las características clínicas y el genotipo de un grupo de pacientes con hiperplasia suprarrenal congénita; este último también se determinó en todos los miembros de la familia. Se estudiaron 9 pacientes diagnosticados en la etapa perinatal y 8 durante la etapa pre y postpuberal. Se analizaron diez mutaciones en el gen CYP21A2 y se evaluó crecimiento y densidad mineral ósea. Once pacientes presentaron la forma clásica: 9 con diagnóstico perinatal y 2 diagnosticados más tardíamente, uno de ellos con agrandamiento testicular por restos adrenales. Todos los pacientes, salvo 1 con una mutación de novo R356W en un alelo, presentaron ambos alelos mutados con un genotipo que predice AE < 2%. Seis pacientes presentaron la forma no clásica, todos con signos clínicos de hiperandrogenismo salvo un familiar asintomático que se diagnosticó por el estudio molecular. Todos, a excepción de uno con un alelo aún no determinado, presentaron la mutación V281L acompañada de otra que predice AE < 2%. Durante la evolución de los pacientes de diagnóstico perinatal se observó talla baja al año con recuperación de la misma en la etapa prepuberal. La densidad mineral ósea fue normal. Podemos concluir que el diagnóstico en la etapa perinatal en pacientes con la forma clásica posibilita un mejor seguimiento y crecimiento. La genotipificación de todos los miembros de una familia permite el diagnóstico de formas asintomáticas. La presencia de mutaciones de novo y de un alelo con una

  8. Prenatal diagnosis of congenital mesoblastic nephroma

    OpenAIRE

    Do, A Young; Kim, Jung-Sun; Choi, Suk-Joo; Oh, Soo-Young; Roh, Cheong-Rae; Kim, Jong-Hwa

    2015-01-01

    Congenital mesoblastic nephroma is a rare renal tumor that is diagnosed during pregnancy and is associated with polyhydramnios, prematurity, and neonatal hypertension. Differential diagnoses include Wilms tumor, adrenal neuroblastoma, and other abdominal tumors. We report a case of congenital mesoblastic nephroma detected by prenatal ultrasonography as a large fetal renal mass with polyhydramnios at 32 weeks of gestation. Ultrasonography showed a 6×6-cm complex, solid, hyperechoic, round mass...

  9. Myth vs. Fact: Adrenal Fatigue

    Science.gov (United States)

    ... Hormones and Health › Myth vs Fact › Adrenal Fatigue Myth vs. Fact Adrenal Fatigue January 2015 Download PDFs ... science. This fact sheet was created to address myths about adrenal fatigue and to provide facts on ...

  10. Determination of serum steroids in monitoring therapy of congenital adrenal hyperplasia%血清类固醇检测于先天性肾上腺皮质增生症治疗监测意义的评价

    Institute of Scientific and Technical Information of China (English)

    肖慧文; 马华梅; 苏喆; 杜敏联; 李燕虹; 陈红珊; 陈秋莉

    2012-01-01

    Objective To assess the utility of serum steroids measurement in monitoring the treatment of children with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). Method Nineteen Patients with CAH 21OHD aged (3.67 ± 1.54) years treated with hydrocortisone and fluorocortisone replacement were followed up at an intervals of 0.33 - 1.0 years over a period of ( 1.47 ± 0.7 ) years. At each visit,roentgenograms of the hands and wrists were taken,fasting peripheral blood were collected to test serum dehydroepiandrosterone sulfate, progesterone, 17-hydroxyprogesterone ( 17-OHP ),androstenedione ( △4-A ),testosterone,free testosterone,estrone,and estradiol concentrations at 8AM in the morning before the first dose of glucocorticoid.Then the patients were classified as being in " Good Control" or in " Poor Control" based on clinical criteria including signs of androgen excess,growth velocity and bone age increment at each interval. Comparisons were carried out between the serum steroid concentrations of the two groups. The receiver operating characteristic (ROC) curves were used to determine the cut-off values for diagnosing "Poor Control".Result Both of serum △4-A and 17-OHP concentrations were higher in " Poor Control" group than those in " Good Control" group [5.95(2.23-11.2) nmoL/Lversus 1.05(1.05-9.89) nmoL/L,t =2.19;13.85(6.06-20) μg/Lversus 3.67(0.42- 21.1) μg/L,t =2.17; P < 0.05,respectively]. The ROC curves for serum △4-Aconcentrations,serum 17-OHP concentrations,serum △4-A in combination with 17-OHP concentrations were constructed with areas under the ROC curves (95% CI) of 0.76(0.62,0.90),0.75(0.62,0.88),0.69 (0.54,0.84),P < 0.05,respectively.Serum △4-A of 3.9 nmol/L had 0.78 of sensitivity and 0.75 of specificity in diagnosing "Poor Control".Serum 17-OHP of 7.1 μg/L has 0.67 of sensitivity and 0.71 of specificity in diagnosing "Poor Control".Conclusion Each of serum 17-OHP or/and △4-A concentration was of significance

  11. A rare adrenal incidentaloma: adrenal schwannoma.

    Science.gov (United States)

    Adas, Mine; Ozulker, Filiz; Adas, Gokhan; Koc, Bora; Ozulker, Tamer; Sahin, Ilknur Mansuroglu

    2013-01-01

    Adrenal schwannoma is an extremely uncommon cause of incidentaloma. It originates from neural sheath Schwann cells of the adrenal gland. We report the case of a left adrenal schwannoma incidentally discovered in a 32-year-old woman during examination of bloated feeling and stomach ache. The patient was incidentally found to have a left adrenal mass of 9 cm on abdominal ultrasonography. Computed tomography (CT) of the abdomen and [(18)F] fluorodeoxyglucose positron emission tomography (PET) were also performed. Metabolic evaluation was unremarkable. Due to the large size of the tumor, left adrenalectomy was performed. The postoperative course was uneventful. Histological examination established the diagnosis of schwannoma. This diagnosis was supported by immunohistochemistry of S-100 and vimentin positivity. In conclusion, adrenal schwannoma is an extremely rare entity and can grow considerably in size. The present case report emphasizes that clinicians should be aware of the possibility of retroperitoneal schwannoma. Total excision of benign schwannoma is associated with a favorable outcome. To our knowledge, there are case reports of schwannoma with CT and magnetic resonance imaging findings in the literature, although this is the first schwannoma case with PET-CT imaging. PMID:24403879

  12. A Rare Adrenal Incidentaloma: Adrenal Schwannoma

    Directory of Open Access Journals (Sweden)

    Mine Adas

    2013-10-01

    Full Text Available Adrenal schwannoma is an extremely uncommon cause of incidentaloma. It originates from neural sheath Schwann cells of the adrenal gland. We report the case of a left adrenal schwannoma incidentally discovered in a 32-year-old woman during examination of bloated feeling and stomach ache. The patient was incidentally found to have a left adrenal mass of 9 cm on abdominal ultrasonography. Computed tomography (CT of the abdomen and [18F] fluorodeoxyglucose positron emission tomography (PET were also performed. Metabolic evaluation was unremarkable. Due to the large size of the tumor, left adrenalectomy was performed. The postoperative course was uneventful. Histological examination established the diagnosis of schwannoma. This diagnosis was supported by immunohistochemistry of S-100 and vimentin positivity. In conclusion, adrenal schwannoma is an extremely rare entity and can grow considerably in size. The present case report emphasizes that clinicians should be aware of the possibility of retroperitoneal schwannoma. Total excision of benign schwannoma is associated with a favorable outcome. To our knowledge, there are case reports of schwannoma with CT and magnetic resonance imaging findings in the literature, although this is the first schwannoma case with PET-CT imaging.

  13. Improvement of semen quality in an infertile man with 21-hydroxylase deficiency, suppressed serum gonadotropins and testicular adrenal rest tumours

    DEFF Research Database (Denmark)

    Mouritsen, Annette; Juul, Anders; Jørgensen, Niels

    2010-01-01

    Here, we report improvement of semen quality in a 30-year-old man with congenital adrenal hyperplasia (CAH) because of 21-hydroxylase deficiency, bilateral testicular adrenal rest tumours (TART) and a 1.5-year infertility history. His adrenal substitution therapy was changed from hydrocortisone 1...... for the presence of TART and disturbed reproductive hormones levels, leading to impaired semen quality. Optimizing the medical treatment may at least in some cases improve fecundity....

  14. Hiperplasia adrenal congênita: dosagem da 17-hidroxiprogesterona basal para seleção e casos para realização do teste de estímulo com ACTH sintético Congenital adrenal hyperplasia: measurement of basal 17-hydroxyprogesterone as a screening test to select patients for the synthetic ACTH provocative test

    Directory of Open Access Journals (Sweden)

    Lúcia Helena Coelho Nóbrega

    2004-05-01

    Full Text Available OBJETIVOS: avaliar se os níveis de 17-hidroxiprogesterona podem predizer o resultado do teste de estímulo como diagnóstico de hiperplasia adrenal congênita, forma tardia. MÉTODOS: foram incluídas no estudo e avaliadas retrospectivamente 122 pacientes com suspeita clínica de hiperplasia adrenal congênita forma tardia. Essa suspeita clínica incluía sinais e/ou sintomas de hiperandrogenismo (hirsutismo, acne, pele oleosa, irregularidade menstrual, etc.. Todas as pacientes foram submetidas ao teste de estímulo da adrenal com ACTH sintético 0,25 mg (Synacthen®. Após repouso de 60 minutos as amostras foram colhidas nos tempos basal e 60 minutos após a administração de 0,25 mg de ACTH sintético para dosagem de 17-hidroxiprogesterona, sendo mantido o acesso venoso com catéter heparinizado. Foi utilizado o método de radioimunoensaio para realizar as dosagens séricas da 17-hidroxiprogesterona. A sensibilidade e a especificidade da 17-hidroxiprogesterona basal como teste de rastreamento para hiperplasia adrenal congênita foram medidas, avaliando vários pontos de corte. Curvas ROC foram feitas para analisar a performance do teste, utilizando o software Medcalc®. RESULTADOS: a análise por curva ROC mostrou um ponto de corte de 181 ng/dl acima do qual dever-se-ia realizar o teste de estímulo, bem próximo a 200 ng/dl, mais comumente aceito pela literatura. Níveis séricos da 17-hidroxiprogesterona mais altos que 200 ng/dl têm valores preditivo positivo e negativo de 75% e 100% e acurácia de 98,4% como diagnóstico de hiperplasia adrenal não-clássica. CONCLUSÕES: considerando os dados, sugerimos que pacientes com hiperandrogenismo clínico devam iniciar a investigação com 17-hidroxiprogesterona basal e, caso esta se mostre acima de 181 ng/dl, sigam a investigação com o teste de estímulo com ACTH sintético.INTRODUCTION: adrenal hyperplasia is a common genetic disorder and 95% of the cases are due to a 21-hydroxylase

  15. Adrenal insufficiency: diagnosis and management.

    Science.gov (United States)

    Munver, Ravi; Volfson, Ilya A

    2006-01-01

    Adrenal insufficiency is a disorder characterized by hypoactive adrenal glands resulting in insufficient production of the hormones cortisol and aldosterone by the adrenal cortex. This disorder may develop as a primary failure of the adrenal cortex or be secondary to an abnormality of the hypothalamic-pituitary axis. Patients with adrenal insufficiency often are asymptomatic or they may present with fatigue, muscle weakness, weight loss, low blood pressure, and sometimes darkening of the skin. The presentation of adrenal insufficiency varies dramatically and poses a major diagnostic dilemma. This review focuses on the diagnosis and treatment of primary and secondary adrenal insufficiency.

  16. Anatomical and functional outcomes of feminizing genitoplasty for ambiguous genitalia in patients with virilizing congenital adrenal hyperplasia Existem muitas controvérsias quanto à melhor técnica e a idade ideal para a realização da genitoplastia feminizante e poucos trabalhos relatam seus resultados em longo prazo

    Directory of Open Access Journals (Sweden)

    Maria Helena Palma Sircili

    2006-06-01

    Full Text Available The ideal surgical technique and appropriate age for performing feminizing genitoplasty are debatable, and few long-term outcome studies have been reported. PURPOSE: To report a retrospective study on anatomical and functional outcomes of feminizing genitoplasty in patients with virilizing congenital adrenal hyperplasia. METHODS: We selected 34 patients (mean age = 3.4 ± 2.5 yr with genital ambiguity classified according to Prader stage. Follow-up ranged from 2 to 16 years. Clitoral length ranged from 1.9 to 5.0 cm; 28 patients had a single perineal orifice, and 6 had a double orifice. The surgical technique included clitorovaginoplasty in a single procedure and was carried out before 2 years of age in 18 patients. Clitoroplasty was performed with glans preservation in all patients. Blood supply was exclusively maintained by the frenular pedicle in 97% of the cases, whereas clitoral dorsal nerves and vessels were preserved in the remaining 3%. The opening of the urogenital sinus was performed using either the Y-V perineal flap procedure (25 patients or the cut-back incision procedure (8 patients. RESULTS: Good morphological and functional results were achieved in 68% of the patients; 21% of the patients had surgical complications, such as incision bleeding (2 cases, glans necrosis (1 girl with Prader V, and vaginal introitus stenosis (4 cases. Three of the latter underwent dilation with acrylic molds in the post-pubertal period with good functional results. CONCLUSIONS: We conclude that single-stage feminizing genitoplasty consisting of vulvoplasty, clitoroplasty, and Y-V perineal flap produced good cosmetic and functional results in virilized girls with congenital adrenal hyperplasia, with few complications. In addition, this surgical approach prevented the need for neovaginaplasty even in patients with high vaginal insertion.OBJETIVO: Apresentar um estudo retrospectivo sobre os resultados cosméticos e funcionais da genitoplastia feminizante

  17. Managing Adrenal Insufficiency

    Science.gov (United States)

    ... the body. • Surgical removal of the adrenals Temporary AI is caused by some medications, infections, and/or surgeries. Causes of temporary AI include the following: • Transsphenoidal surgery for Cushing’s disease ...

  18. Evolving adrenal insufficiency

    Directory of Open Access Journals (Sweden)

    Ajitesh Roy

    2012-01-01

    Full Text Available Introduction: Tuberculosis is the most common cause of Addison′s disease in India. The exact status of adrenal reserve in tuberculosis is still an enigma and recovery of adrenal function is unpredictable. Objective: We report a case with a pre-Addisonian state and unchanged adrenal size after 1 year treatment. Materials and Methods: A 31-year patient with adrenal tuberculosis was diagnosed and treated with anti tubercular drugs (ATDs and steroid. Results: A 31-year male, presented with fever and weight loss for 3½ months with anorexia, nausea, hyperpigmentation of skin, and buccal mucosa and weakness with past h/o adequately treated pulmonary tuberculosis at 3 years of age. On examination, the patient was anemic. A non-tender, firm right (Rt. submandibular lymphnode was palpable. Investigations revealed: High erythrocyte sedimentation rate (ESR, negative HIV, and sputum for acid fast bacilli (AFB. Initial cortisol was high but subsequently became low with negative short synacthin test (SST. Computed tomography showed bilateral (B/L enlarged hypodense adrenal mass with inconclusive fine needle aspiration cytology (FNAC and negative AFB culture. Rt. submandibular lymph node FNAC showed caseating granuloma. ATDs and steroids were started, the lymphadenopathy regressed and symptoms subsided. However, after 1 year of treatment steroid withdrawal failed and adrenal size remained the same. Conclusion: The adrenal has considerable capacity to regenerate during active infection and ultimately become normal or smaller in size. However, in the case reported here, they failed to regress. Reversal of adrenal function following ATD is a controversial issue. Some studies have shown normalization following therapy, while others have contradicted it similar to the finding in our case.

  19. 新生儿先天性肾上腺皮质增生症筛查中17羟孕酮切值的建立%Study on establishment of 17-OHP cut-off point in screening of congenital adrenal hyperplasia

    Institute of Scientific and Technical Information of China (English)

    万志丹; 黄湘; 张翠梅; 林翠兰; 姚英姿; 梁睿; 李冬秀; 吴学威

    2012-01-01

    Objective To make a retrospective analysis on the hospital congenital adrenal hyperplasia (CAH) screening data from January 2010 to September 2010,a preliminary study of different gender,gestational age and birth weight of newborns 17-hydroxyprogesterone (17-OHP) distribution,and clinical diagnosis of cases,and set a reasonable screening cut value.Methods We used DELFIA method to detect neonatal peripheral blood 17-OHP concentrations,and used the percentile method to determine the cut value.Results Newborn screening of (17-OHP levels were detected skewed distribution.There were significant differences between different gender,weight and gestational age.According to robust regression statistics gestational age has the best correlation with 17-OHP.So just set cut values grouped premature neonates and normal gestational age newborn.Premature neonates ( < 37W) 17-OHP 99% percentile value 66.1 nmol/L.Normal gestational age (≥ 37W) newborn 17-OHP 99% percentile values was 26.6 nmol/L.Followed by tracking statistics from January 2010 to August 2011,17 cases of CAH diagnosed among the 88,061 cases of live births screened newborn,classic type 2 cases,the incidence rate of 1/44030; simple of man in 1 case,the incidence rate of 1/88061; atypical in 14 cases,the incidence rate of 1/6290.Conclusion Zhongshan areas of CAH incidence was significantly lower than the national level.Using a uniform 17-OHP cut value 30 nmol/L for newborn CAH has a certain influence to screening results,it is recommended screening cut-off point of premature neonates should be 60 nmol/L,in order to reduce the false positive rate and recall rate.%目的 回顾性分析2010年1月-2010年9月,我院新生儿先天性肾上腺皮质增生症(CAH)的筛查数据,初步探讨不同性别、出生孕周及体重的新生儿17-羟孕酮(17-OHP)分布情况,并结合临床确诊病例,设定合理的筛查切值.方法 采用时间分辨荧光免疫分析方法检测新生儿末稍血17-OHP浓度,采

  20. Pure Androgen-Secreting Adrenal Adenoma Associated with Resistant Hypertension

    Directory of Open Access Journals (Sweden)

    René Rodríguez-Gutiérrez

    2013-01-01

    Full Text Available Pure androgen-secreting adrenal adenoma is very rare, and its diagnosis remains a clinical challenge. Its association with resistant hypertension is uncommon and not well understood. We present an 18-year-old female with a 10-year history of hirsutism that was accidentally diagnosed with an adrenal mass during the evaluation of a hypertensive crisis. She had a long-standing history of hirsutism, clitorimegaly, deepening of the voice, and primary amenorrhea. She was phenotypically and socially a male. FSH, LH, prolactin, estradiol, 17-hydroxyprogesterone, and progesterone were normal. Total testosterone and DHEA-S were elevated. Cushing syndrome, primary aldosteronism, pheochromocytoma, and nonclassic congenital adrenal hyperplasia were ruled out. She underwent adrenalectomy and pathology reported an adenoma. At 2-month followup, hirsutism and virilizing symptoms clearly improved and blood pressure normalized without antihypertensive medications, current literature of this unusual illness and it association with hypertension is presented and discussed.

  1. Contemporary adrenal scintigraphy

    International Nuclear Information System (INIS)

    High-resolution computed tomography (CT) and magnetic resonance (MR) imaging have replaced scintigraphy as primary imaging modalities for the evaluation of adrenal diseases. Thin-slice CT, CT contrast washout studies and MR pulse sequences specifically designed to identify adrenal lipid content have radically changed the approach to anatomic imaging and provide unique insight into the physical characteristics of the adrenals. With a confirmed biochemical diagnosis, further evaluation is often unnecessary, especially in diagnostic localization of diseases of the adrenal cortex. However, despite the exquisite detail afforded by anatomy-based imaging, there are not infrequently clinical situations in which the functional insight provided by scintigraphy is crucial to identify adrenal dysfunction and to assist in localization of adrenocortical and adrenomedullary disease. The introduction of hybrid PET/CT and SPECT/CT, modalities that directly integrate anatomic and functional information, redefine the radiotracer principle in the larger context of high-resolution anatomic imaging. Instead of becoming obsolete, scintigraphy is an element of a device that combines it with CT or MR to allow a direct correlation between function and anatomy, whereby the combination creates a more powerful diagnostic tool than the separate component modalities. (orig.)

  2. Genetic Causes in Adrenal or Ovarian Hyperandrogenism in the Reproductive Years

    Directory of Open Access Journals (Sweden)

    Bals-Pratsch M

    2009-01-01

    Full Text Available Hyperandrogenism and androgenisation frequently occur within families so that a monogenic cause such as congenital adrenal hyperplasia (CAH must be considered. For the most part, classical CAH is first diagnosed and treated on the basis of common sex development disorders in early childhood by pediatric endocrinologists. In contrast, the non-classic "late-onset CAH" is mostly symptomatic by androgenisation from the age of puberty. For both forms, the final diagnosis relies on the evidence of a CYP21 gene mutation. Even though the incidence of CAH in newborns with a ratio of 1:5000 is rare, the frequency of heterozygotes in central Europe is relatively prevalent with 1:50. In patients with hyperandrogenism of adrenal origin who desire children, a CYP21 mutation should therefore be excluded. In case of a known mutation carrier, the CYP21 gene diagnostic also should be applied on the partner. If both partners are genetic carriers, a dexamethasone (DEX therapy of the pregnant woman should be considered very early in each case immediately after determining a pregnancy to prevent serious virilization of the external genitalia of female CAH fetuses. A common differential diagnosis is androgenisation through ovarian hyperandrogenism. For many years, candidate genes for the polycystic ovary syndrome (PCOS have been investigated. The search focuses on genes involved in the regulation of insulin, follicle maturation as well as androgen secretion and regulation. Especially promising is a gene polymorphism on chromosome 19p13.2 in association with insulin resistance and disordered β-cell functions. Examinations of polymorphisms in FSH receptor genes make one expect that the effective gonadotropin dose in ovarian stimulation can be individually determined before treatment. Thus, severe hyperstimulation syndromes in PCOS patients possibly can be avoided. One might anticipate that new results in molecular genetic PCOS research in the upcoming years will lead

  3. Clinical features and StAR gene mutations in children with congenital lipoid adrenal hyperplasia%先天性类脂质性肾上腺皮质增生症临床特点及StAR基因突变分析

    Institute of Scientific and Technical Information of China (English)

    谢婷; 郑纪鹏; 黄永兰; 樊春; 吴冬燕; 谭敏沂; 李秀珍; 程静; 刘丽

    2015-01-01

    This article reported the clinical manifestations, steroid proifles and adrenal ultrasound ifndings in two unrelated Chinese girls with lipoid congenital adrenal hyperplasia (LCAH). Direct DNA sequencing and restriction fragment length polymorphism (RFLP) analysis were used to identify the mutations of steroidogenic acute regulatory protein (StAR) gene. The two patients with 46,XX karyotype, presented hyperpigmentation, growth retardation, and hyponatremia. Steroid profiles analysis revealed elevated plasma adrenocorticotrophic hormone levels, decreased or normal serum cortisol levels and low levels of androgens. Ultrasound examinations revealed that enlarged adrenals in patient 1 and normal adrenals in patient 2. Direct DNA sequencing of StAR gene showed a reported homozygous for c.772C>T(p.Q258X) in patient 1. Compound heterozygous for c.367G>A(p.E123K) and IVS4+2T>A (both novel mutations) were found in patient 2, inherited from her mother and father respectively. The amino acid of mutant position of the novel p.E123K was highly conserved in ten different species and was predicted to have impacts on the structure and function of StAR protein by the PolyPhen-2 prediction software. RFLP analysis revealed three bands (670, 423 and 247 bp) in patient 2 and her father and two bands (423 and 247 bp) in her mother and 50 controls. It is concluded that LCAH should be considered in girls with early onset of adrenal insufifciency and that steroid proifles, karyotype analysis, adrenal ultrasound and StAR gene analysis may be helpful for the deifnite diagnosis of LCAH.%该文回顾性分析2例先天性类脂质性肾上腺皮质增生症(LCAH)患儿的临床表现、类固醇激素谱及影像学检查结果,采用DNA直接测序法及限制性片段长度多态性(RFLP)技术对类固醇生成急性调节蛋白(StAR)基因突变进行分析。2例患儿均为46,XX女性,确诊年龄分别为4个月及2岁4个月。婴儿早期出现皮肤色素沉着、

  4. Genetics of adrenal tumors.

    Science.gov (United States)

    Opocher, G; Schiavi, F; Cicala, M V; Patalano, A; Mariniello, B; Boaretto, F; Zovato, S; Pignataro, V; Macino, B; Negro, I; Mantero, F

    2009-06-01

    The impact of genetics and genomics on clinical medicine is becoming more and more important. Endocrinology pioneered the development of molecular medicine, but also the study of adrenal tumors had a great impact in this field. Particularly important was the detection of genetics of tumors derived from the adrenal medulla, as well as that of those derived from the sympathetic and parasympathetic paraganglia. The identification of mutations in one of the several pheochromocytoma/paraganglioma susceptibility genes may indicate a specific clinical management drive. Less well understood is the genetics of adrenal cortex tumors, in particular adrenocortical carcinoma, a rare and particularly aggressive disease. There are only a few examples of hereditary transmission of adrenocortical carcinoma, but the analysis of low penetrance genes by genome wide association study may enable us to discover new genetic mechanisms responsible for adrenocortical-derived tumors. PMID:19471236

  5. Horseshoe adrenal gland in association with asplenia: presentation of six new cases and review of the literature

    International Nuclear Information System (INIS)

    Asplenia syndrome is a form of heterotaxy characterized by bilateral right-sidedness. Congenital fusion of the adrenal glands (''horseshoe adrenal gland'') is a less common feature of asplenia syndrome, most instances of which have been found at autopsy.Purpose. To present clinical and imaging features of infants diagnosed with asplenia syndrome and horseshoe adrenal gland.Materials and methods. Six infants with asplenia syndrome were identified as having a horseshoe adrenal gland. Medical records and imaging studies were reviewed to determine clinical presentation, associated anomalies, and outcome. The literature was reviewed for prior reports of horseshoe adrenal gland.Results. Horseshoe adrenal gland was identified in five infants by sonography and one by CT, the latter confirmed by autopsy. In all cases, the horseshoe adrenal gland was pre-aortic. Besides features of asplenia syndrome, one infant also had associated vertebral anomalies and bilateral renal agenesis. Including the current cases, of 65 reported cases of horseshoe adrenal gland 34 (52%) were associated with asplenia, 24 (37%) with neural tube defects, 19 (29%) with renal anomalies, and 2 (3%) with Cornelia de Lange syndrome. Horseshoe adrenal gland has not been reported with polysplenia syndrome.Conclusions. Horseshoe adrenal gland is a less common manifestation of asplenia that may be demonstrated by imaging. Horseshoe adrenal gland may be a differentiating feature between asplenia and polysplenia. (orig.)

  6. Adrenal venous sampling in a patient with adrenal Cushing syndrome

    Directory of Open Access Journals (Sweden)

    Carlos Esteban Builes-Montaño

    2015-07-01

    Full Text Available The primary bilateral macronodular adrenal hyperplasia or the independent adrenocorticotropic hormone bilateral nodular adrenal hyperplasia is a rare cause hypercortisolism, its diagnosis is challenging and there is no clear way to decide the best therapeutic approach. Adrenal venous sampling is commonly used to distinguish the source of hormonal production in patients with primary hyperaldosteronism. It could be a useful tool in this context because it might provide information to guide the treatment. We report the case of a patient with ACTH independent Cushing syndrome in whom the use of adrenal venous sampling with some modifications radically modified the treatment and allowed the diagnosis of a macronodular adrenal hyperplasia.

  7. Adrenal pseudocyst. Radiological finds

    International Nuclear Information System (INIS)

    Adrenal cysts are infrequent, the pseudocysts being those that most often produce clinical symptoms. A case of pseudocyst in right suprarenal gland is presented in a young woman with no clinical history, who was studied by means of ultrasound (US) and computerized tomography (CT). (author)

  8. Absence of steroid biosynthetic defects in heterozygote individuals for classic 11{beta}-hydroxylase deficiency due to a R448H mutation in the CYP11B1 gene

    Energy Technology Data Exchange (ETDEWEB)

    Roesler, A.; Cohen, H. [Hadassah-Hebrew Univ. Medical Center, Jerusalem (Israel)

    1995-12-01

    Steroid 11{beta}-hydroxylase deficiency (failure to convert 11-deoxycortisol to cortisol) is responsible for less than 5% of cases of classic congenital adrenal hyperplasia, but it is relatively frequent in Israel, among Jews of Moroccan origin. Affected individuals have a single base substitution in exon 8 of CYP11B1 gene, codon 448, from CGC (arginine) to CAC (histidine) (R448H), a mutation that abolishes enzyme activity completely. We studied the hormonal response to ACTH stimulation in individuals genotyped to have the R448H mutation in one allele only (heterozygotes), and who were therefore assumed to have 50% of 11{beta}-hydroxylase activity. No demonstrable hormonal abnormalities were found in the 6 adults (3 mothers and 3 fathers) and 2 sons studied, suggesting that a quantitatively reduced 11{beta}-hydroxylase is still enough for normal adrenal biosynthesis. 19 refs., 1 fig., 2 tabs.

  9. Genetic disorders involving adrenal development.

    Science.gov (United States)

    Lin, Lin; Ferraz-de-Souza, Bruno; Achermann, John C

    2007-01-01

    The past decade has seen significant advances in our understanding of the genetic aetiology of several forms of adrenal failure that present in infancy or childhood. Several of these disorders affect adrenal development and are termed 'adrenal hypoplasia'. These conditions can be broadly divided into: (1) secondary forms of adrenal hypoplasia due to panhypopituitarism (e.g. HESX1, LHX4, SOX3) or abnormalities in ACTH synthesis (TPIT) or processing (e.g. POMC or PC1); (2) adrenal hypoplasia as part of an ACTH resistance syndrome [MC2R/ACTH receptor, MRAP, AAAS (triple A syndrome)], and (3) primary defects in the development of the adrenal gland itself (primary adrenal hypoplasia). Primary adrenal hypoplasia most commonly occurs in an X-linked form due to mutations in the nuclear receptor DAX1 (NR0B1) but can occur in a poorly understood recessive form or as part of the IMAGe (intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia, genitourinary anomalies) syndrome. Defining the molecular basis of these conditions can have significant clinical implications for management, counselling and presymptomatic diagnosis, as well as providing fascinating insight into normal and abnormal mechanisms of adrenal development in humans.

  10. Congenital Leukemia

    OpenAIRE

    Raj, Aishwarya; Talukdar, Sewali; Das, Smita; Gogoi, Pabitra Kumar; Das, Damodar; Bhattacharya, Jina

    2013-01-01

    Congenital leukemia is a rare but a well-documented disease in which leukemic process is detected at birth or very shortly thereafter (Philip McCoy and Roy Overton, Commun Clin Cytom 22:85–88, 1995). These leukemias represent approximately 0.8 % of all childhood leukemias. We present a case of congenital acute myeloid leukemia manifesting from the very first day of birth. Diagnosis of acute myeloid leukemia was suspected by the presence of blasts in the peripheral blood smear and was confirme...

  11. Prenatal diagnosis of congenital mesoblastic nephroma.

    Science.gov (United States)

    Do, A Young; Kim, Jung-Sun; Choi, Suk-Joo; Oh, Soo-Young; Roh, Cheong-Rae; Kim, Jong-Hwa

    2015-09-01

    Congenital mesoblastic nephroma is a rare renal tumor that is diagnosed during pregnancy and is associated with polyhydramnios, prematurity, and neonatal hypertension. Differential diagnoses include Wilms tumor, adrenal neuroblastoma, and other abdominal tumors. We report a case of congenital mesoblastic nephroma detected by prenatal ultrasonography as a large fetal renal mass with polyhydramnios at 32 weeks of gestation. Ultrasonography showed a 6×6-cm complex, solid, hyperechoic, round mass in the right kidney. At 35 weeks of gestation, the patient was admitted with preterm premature rupture of membranes and the baby was delivered vaginally. Postnatal ultrasonography and computed tomography showed a heterogeneous solid mass on the right kidney. At the end of the first week of life, a right nephrectomy was performed and subsequent pathological examination confirmed a cellular variant of congenital mesoblastic nephroma with a high mitotic count. Postoperative adjuvant chemotherapy was administered. The newborn was discharged in good condition. PMID:26430667

  12. Kinetics of adrenal medullary cells.

    OpenAIRE

    Verhofstad, A A

    1993-01-01

    The adrenal medulla of mammals has a heterogeneous population of cells. In adults most are epithelial cells containing a particular type of cytoplasmic granule. Based on a variety of cytochemical and ultrastructural studies it is now accepted that 2 different adrenal medullary chromaffin cell types can be distinguished, i.e. noradrenaline (NA) and adrenaline (A) synthesising and storing cells. Other cell types present in the adrenal medulla include neuronal elements comprising either cell bod...

  13. Etiopathogeny of Primary Adrenal Hypercortisolism.

    Science.gov (United States)

    Vélayoudom-Céphise, Fritz-Line; Haissaguerre, Magali; Tabarin, Antoine

    2016-01-01

    Primary adrenal hypercortisolism is mainly due to cortisol-producing adrenocortical adenomas, bilateral micronodular or macronodular disease, and adrenal carcinomas. Important advances in the pathophysiology of primary adrenal hypercortisolism have been made in the last few years, partly through the use of new molecular biology tools. Most adrenal abnormalities leading to increased cortisol production involve somatic or germinal mutations of genes encoding elements of the cyclic AMP/protein kinase A signaling pathway, as shown in adrenal adenomas in 2014. One peculiar condition is primary macronodular adrenal hyperplasia (PMAH), which has given rise to new pathophysiological concepts such as regulation of cortisol secretion by illegitimate ligands through aberrant expression of G protein-coupled transmembrane receptors in adrenal nodules and stimulation of cortisol production by local adrenocorticotropic hormone production through autocrine/paracrine mechanisms. These findings provide a basis for the development of targeted therapies as an alternative to surgery. The recent identification of germinal mutations of ARMC5 in PMAH raises the possibility that this is much more frequently an inherited disease than previously suspected. It also offers the possibility of earlier diagnosis of PMAH by genetic screening and, hopefully, of earlier intervention to prevent the onset of hypercortisolism and its complications. The pathophysiology of Cushing's syndrome associated with a subset of adrenal adenomas, including subclinical cortisol-secreting incidentalomas and adrenal carcinomas, remains to be determined. PMID:27212135

  14. Congenital Anomalies in Infant with Congenital Hypothyroidism

    OpenAIRE

    Zahra Razavi; Alireza Yavarikia; Saadat Torabian

    2012-01-01

    bjective: Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran.Methods: The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study wa...

  15. [Morphometry of the adrenals].

    Science.gov (United States)

    Chumachenko, P A

    1977-05-01

    The authors report on the method of determination of the weight indices of the adrenyl gland glomerular, testicular-reticular and medullar zones with a spheroid shape; it is substantiated by mathematical analysis of a plasticine model of the adrenal gland, whose characteristics approached the actual ones. The method was particularly accurate in determination of the weight of the fascicular-reticular and glomerular zones, and less--in determination of the weight of the medullary layer, the method's error being 0.6-0.9% in the first case, 2.7-3.5% in the second and 5.3-6.4 in the last. PMID:884280

  16. [Congenital aniridia].

    Science.gov (United States)

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  17. Congenital diplopodia

    Energy Technology Data Exchange (ETDEWEB)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam [University of California, Davis, Department of Radiology, 4860 Y. Street, Suite 3100, CA 95817, Davis (United States)

    2003-11-01

    Diplopodia, or duplicated foot, is a rare congenital anomaly. It differs from polydactyly in that supernumerary metatarsal and tarsal bones are present as well as extra digits. Only a few cases of this anomaly have been reported in the literature to date. We present a newborn male without intrauterine teratogen exposure who was born with a duplicate foot of the left lower extremity and imperforate anus. (orig.)

  18. Congenital Thrombocytopenia

    Institute of Scientific and Technical Information of China (English)

    王兆钺

    2011-01-01

    @@ Platelets are essential for normal hemostasis.Platelets adhere to damaged blood vessels, and then aggregate and promote activation of coagulation factors, resulting to ceasing bleeding.Both quantitative and qualitative abnormalities of platelets can cause bleeding problems.Among them, immune thrombocytopenias are the most common conditions.However, congenital thrombocytopenias are often neglected because of their relative rarity and complex laboratory tests.That causes misdiagnosis and unnecessary and potentially harmful treatments for many patients.

  19. Primary bilateral adrenal non-Hodgkin's lymphoma associated with normal adrenal function.

    Science.gov (United States)

    Gu, Bin; Ding, Qiang; Xia, Guowei; Fang, Zujun; Fang, Jie; Jiang, Haowen; Yao, Mengshu

    2009-04-01

    Primary bilateral adrenal non-Hodgkin's lymphoma is rare. Adrenal insufficiency or adrenal failure as a result of tumor destruction is the main pathophysiological change of most cases. Normal adrenal function despite bulky bilateral adrenal masses is extremely rare. We present a case of primary bilateral adrenal non-Hodgkin's lymphoma associated with normal adrenal function. Positron emission tomography-computed tomography is helpful to the diagnosis.

  20. ADRENAL INCIDENTALOMAS: ANALYSIS OF 126 CASES

    Institute of Scientific and Technical Information of China (English)

    李汉忠; 严维刚; 曾正陪; 肖河; 冯超; 王惠君

    2003-01-01

    Purpose. To evaluate the diagnosis and treatment of adrenal incidentalomas. Methods. One hundred and twenty-six patients with incidentalomas were analyzed, among them 98 underwent operation. Results. Eighty-eight of the adrenal incidentalomas were discovered by ultrasound. Of all the types of adrenal incidentalomas, 52 (41.3%) of them were adenomas; 43 (34.1%) were hypersecretory adrenal tumors, including 29 pheochromocytomas, 9 primary aldosteronisms, 1 adrenogenitol syndrome combined with adrenal adenoma, 2 Cushing's syndrome combined with adenomas and 2 Cushing's syndrome combined with nodular hyperplasias. All nonhypersecretory adrenal adenomas were under 6 cm, and all adrenal carcinomas were above 6 cm.Conclusions. To search for hypersecretory adrenal tumors and to detect malignant adrenal tumors are quite essential in the process of diagnosing adrenal incidentalomas. For nonhypersecretory adrenal adenomas, the size of tumor is the most important index in determining whether the tumor is benign or malignant and whether the tumor needs to be treated with operation.

  1. Identification of a novel large CYP17A1 deletion by MLPA analysis in a family with classic 17α-hydroxylase deficiency.

    Science.gov (United States)

    Turkkahraman, Doga; Guran, Tulay; Ivison, Hannah; Griffin, Aliesha; Vijzelaar, Raymon; Krone, Nils

    2015-01-01

    Steroid 17α-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia caused by mutations in the 17α-hydroxylase ( CYP17A1) gene. CYP17A1 is a key enzyme in the biosynthesis of adrenal and gonadal steroid hormones facilitating both 17α-hydroxylase and 17,20-lyase activities. We characterized a partial CYP17A1 deletion in a Kurdish family with 17OHD by multiplex ligation-dependent probe amplification (MLPA). The index patient presented with amenorrhea and lack of pubertal development. Investigations established the diagnosis of 46,XY disorder of sex development (DSD). She is the daughter of consanguineous parents and has 2 sisters with similar clinical presentation. All patients showed biochemical signs of primary adrenal and gonadal insufficiency. The molecular genetic analysis by PCR suggested a deletion spanning exons 1–6 of the CYP17A1 gene. MLPA analysis confirmed the large partial CYP17A1 deletion in patients and parents in homozygous and heterozygous state, respectively. This is the first report employing MLPA for mutation analysis to detect a deletion of CYP17A1 spanning multiple exons in 3 patients with classic 17OHD. Therefore, it is important to consider large partial CYP17A1 deletions in 17OHD in addition to point mutations in cases where no segregation analysis is possible to determine the correct genotype. PMID:25765894

  2. Congenital hypoaldosteronism.

    Science.gov (United States)

    Sethupathi, Vanathi; Vijayakumar, M; Janakiraman, Lalitha; Nammalwar, B R

    2008-08-01

    Congenital hypoaldosteronism due to an isolated aldosterone biosynthesis defect is rare. We report a 4 month old female infant who presented with failure to thrive, persistent hyponatremia and hyperkalemia. Investigations revealed normal serum 17 hydroxy progesterone and cortisol. A decreased serum aldosterone and serum 18 hydroxy corticosterone levels with a low 18 hydroxy corticosterone: aldosterone ratio was suggestive of corticosterone methyl oxidase type I deficiency. She was started on fludrocortisone replacement therapy with a subsequent normalization of electrolytes. Further molecular analysis is needed to ascertain the precise nature of the mutation.

  3. Adrenal Cyst Presenting as Hepatic Hydatid Cyst

    OpenAIRE

    Abdulla Darwish; Veena Nagaraj; Mohmmed B. Mustafa; Ahmed Al Ansari

    2013-01-01

    Introduction. Although adrenal cysts are uncommon, the incidence rate is increasing with the advances in radiological technologies. The incidental detection of adrenal cysts nowadays has become more frequent as a result of the increase usage of high quality imaging modalities. Adrenal cysts originate from the adrenal gland and can be classified into either true or pseudocyst. Presentation of Case. In this report, we described an adrenal cyst of endothelial type, in a 30-year-old lady who was ...

  4. Congenital Anomalies in Infant with Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Zahra Razavi

    2012-09-01

    Full Text Available bjective: Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran.Methods: The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study was conducted in infants diagnosed with congenital hypothyroidism being followed up in Pediatric Endocrinology Clinicof Besat Hospital, a tertiary care centre in Hamadan. Cases included all infants with congenital hypothyroidism diagnosed through newborn screening program or detected clinically. Anomalies were identified by clinical examination, echocardiography, and X-ray of the hip during the infant’s first year of life.Results: A total of 150 infants with biochemically confirmed primary congenital hypothyroidism (72 females and 78 males were recruited during the period between May 2006-2010. Overall, 30 (20% infants had associated congenital anomalies. The most common type of anomaly was Down syndrome. Seven infants (3.1% had congenital cardiac anomalies such as: ASD (n=3, VSD (n=2, PS (n =1, PDA (n=1. Three children (2.6% had developmental displasia of the hip (n=3.Conclusion: The overall frequency of Down syndrome, cardiac malformation and other birth defect was high in infants with CH. This reinforces the need to examine all infants with congenital hypothyroidism for the presence of associated congenital anomalies.

  5. 一种DAX-1基因移码突变(428delG)引起的X-连锁先天性肾上腺发育不良%A novel mutation of 428delG in DAX-1 gene causing X-linked adrenal hypoplasia congenital

    Institute of Scientific and Technical Information of China (English)

    许敏; 王佑民; 邢学农; 周晓惠

    2009-01-01

    目的 研究1个X-连锁先天性肾上腺发育不良家系的临床特征,检测患者及其家属中是否存在相关DAx-1基因的突变.方法 收集1个临床诊断X-连锁先天性肾上腺发育不良的家系中2例患者及亲属的临床资料和外周血标本;提取基因组DNA,设计4对引物扩增DAX-1基因的2个外显子,PCR扩增DAX-1的全部外显子,扩增产物经纯化后进行直接测序.测序结果 在核苷酸序列数据库进行比较分析.结果 两例患者(表兄弟)DAX-1基因第1外显子处均存在428delG半合子移码突变.而患者的基因型与其临床表型并不一致.家系中有3例女性(他们的母亲及外祖母)为此突变的杂合子,正常人及家族中其他成员无该位点突变.结论 在1个中国人先天性肾上腺发育不良家系中发现DAX-1新的移码突变428delG.各种基因型与表现型之间并无相关性.%Objective To investigate the clinical features and to identify the DAX-1 gene mutation in a Chinese kindred with X-linked adrenal hypoplasia congenital(AHC).Methods Clinieal data and peripheral blood samples were obtained from the affected individuals and their relatives.The genomic DNA was isolated from whole blood.Four pairs of primers were used to amplify the two exons of the DAX-1 gene,and PCR products were purified and sequenced directly.Sequencing results were compared to the human DAX-1 sequence in the public database.ResultsA novel hemizygous frameshift mutation (428delG)in exon 1 of the DAX-1 gene was found in both patients(the index case and his cousin).Some clinical features such as the age of onset were different although these 2 patients carried the same mutation.Three females in the family.including the mothers of the 2 patients and their grandmother were carriers of this mutation.No such mutation was detected in other healthy persons in the family.Conclusion The result suggested that X-linked AHC in the kindred was caused by a novel mutation of 428delG in the DAX-1

  6. Adrenal Incidentalomas with Supraphysiologic Response to ACTH Stimulus: A Case Report

    Directory of Open Access Journals (Sweden)

    Marianna Antonopoulou

    2012-01-01

    Full Text Available We present the diagnostic approach of a patient with adrenal incidentalomas. A 72-year-old African American male had a CT scan of the abdomen showing right and left adrenal masses measuring and , respectively. The patient had negative hormonal workup. The radiologist insisted that the CT findings are consistent with adrenal hyperplasia, and therefore he underwent ACTH stimulation to rule out late-onset congenital adrenal hyperplasia (CAH. The stimulation test revealed that 17-hydroxyprogesterone and 11-deoxycortisol increased to levels high enough to confirm CAH, but cortisol had exaggerated response as well, thus making the diagnosis of CAH unlikely where metabolism is shifted to precursors. Subsequently, the patient underwent screening for Cushing's syndrome (CS with a dexamethasone suppression test. Patient failed the suppresion test, raising the issue for subclinical CS (SCS, likely due to ACTH-independent macronodular adrenal hyperplasia. Our patient had been diagnosed with MGUS and so far there are only 3 case reports of extramedullary plasmacytoma arising from the adrenals. One was bilateral and one had functional abnormalities. Our differential diagnosis includes subclinical CS with aberrant receptors versus a functioning extramedullary plasmacytoma.

  7. Testicular adrenal rest tumors (TARTs) as a male infertility factor. Case report.

    Science.gov (United States)

    Niedziela, Marek; Joanna, Talarczyk; Piotr, JedrzejczaK

    2012-09-01

    Since testes and adrenal cortex derive from the same urogenital ridge, adrenal tissue with descending gonads may migrate in early embryonic period. Although most often ectopic tissue undergoes atrophy in some cases, when adrenocorticotrophic (ACTH) overstimulation occurs, the adrenal remnants in the testes may become hypertrophic and form testicular adrenal rest tumors (TARTs). The growth of TARTs in the testes leads to obstruction of the seminiferous tubules which can mechanically impair the function of the gonads and cause irreversible azoospermia. We describe a patient suffering since neonatal period from congenital adrenal hyperplasia (CAH), disorder with defected pathway of cortisol production, which leads to increased ACTH production and to overstimulation of adrenal cortex. He had very poor disease control and therefore in late puberty he was diagnosed with TARTs. At the age of 19.5 he was diagnosed with azoospermia, most likely caused by TARTs. It is the first evidence of TARTs in Polish literature. Although not many cases have been published so far the incidence of TARTs seems to be highly underdiagnosed, so it seems reasonable to consider the disease in differential diagnosis of male infertility.

  8. Classical antiparticles

    Energy Technology Data Exchange (ETDEWEB)

    Costella, J.P.; McKellar, B.H.J.; Rawlinson, A.A.

    1997-03-01

    We review how antiparticles may be introduced in classical relativistic mechanics, and emphasize that many of their paradoxical properties can be more transparently understood in the classical than in the quantum domain. (authors). 13 refs., 1 tab.

  9. Radiological diagnosis of adrenal lesions

    International Nuclear Information System (INIS)

    Among all the radiological examination techniques, CT is today, besides scintigraphy, the method of choice as far as the detection of functional adrenal lesions is concerned. In primary aldosteronism, CT classification of the syndrome is based on the detection of an adenoma which can be reliably detected in adenoma sizes up to 8-10 mm. Thus, 70 to 80% of Conn's syndromes can be classified. In adrenal Cushing's syndrome, the distinction between adenoma and carcinoma of the adrenal gland is up to CT and can usually be easily made due to the characteristic morphology of each type of lesion. In case of a typcial adrenal or juxtaadrenal tumor location, detection of a pheochromocytoma is likewise easy. In ectopic and multiple pheochromocytomas or such as occur as part of a MEN-syndrome, the situation is quite different. If lesions of the adrenal gland are found by accident in examinations otherwise indicated, the question arises whether the process is malignant or benign. In this respect, all the traditional imaging methods, including CT, involve a considerable factor or uncertainity, especially if a malignant tumor is anamnestically known and the question of metastases arises. According to recent information, MR-imaging seems to be advantageous concerning this difficult differential diagnosis. (orig.)

  10. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse ... Genetic Testing Registry: Congenital hypothyroidism Genetic Testing Registry: Hypothyroidism, ... Encyclopedia: Congenital Hypothyroidism These resources ...

  11. Adrenal oncoctyoma of uncertain malignant potential: a rare etiology of adrenal incidentaloma.

    Science.gov (United States)

    Kedia, Rohit R; Muinov, Lucy; Lele, Subodh M; Shivaswamy, Vijay

    2016-03-01

    A rare cause for rapid adrenal enlargement is adrenal oncocytoma of uncertain malignant potential. A full biochemical evaluation is warranted to screen secreting adrenal adenomas as well as to evaluate adrenal cortical carcinoma. Careful pathologic evaluation is required as the diagnosis of AOC cannot be made by imaging. PMID:27014458

  12. Imaging features of primary adrenal lymphoma

    Institute of Scientific and Technical Information of China (English)

    WANG Jun-ping; SUN Hao-ran; LI Ya-jun; BAI Ren-ju; GAO Shuo

    2009-01-01

    @@ Secondary involvement of the adrenal glands with non-Hodgkin's lymphoma (NHL) has been reported to occur in up to 25% of patients during the course of disease. However, primary adrenal lymphoma (PAL) is very rare.

  13. Cushing syndrome due to adrenal tumor

    Science.gov (United States)

    Adrenal tumor - Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the ... or cancerous (malignant). Noncancerous tumors that can cause ... Adrenal adenomas Micronodular hyperplasia Cancerous tumors that ...

  14. Giant adrenal cyst displacing the right kidney.

    Science.gov (United States)

    Chodisetti, Subbarao; Boddepalli, Yogesh; Kota, Malakondareddy

    2016-01-01

    Adrenal cysts are rare and should be considered in the differential diagnosis of retroperitoneal cysts. We present a case of a huge adrenal cyst displacing the right kidney anteriorly toward the left side in a young female.

  15. Recurrence of adrenal aldosterone-producing adenoma

    OpenAIRE

    Calvo-Romero, J. M.; Ramos-Salado, J. L.

    2000-01-01

    Conn's syndrome (adrenal aldosterone-producing adenoma) and bilateral adrenal hyperplasia are the most common causes of primary aldosteronism. The treatment of choice for patients with aldosterone-producing adenoma is unilateral total adrenalectomy. Recurrence after adequate surgery is exceptional. We present a patient with recurrence of an aldosterone-producing adenoma in the right adrenal gland 9 years after adenomectomy of a aldosterone-producing adenoma in the same adrenal gland. We concl...

  16. Control of adrenal androgen production.

    Science.gov (United States)

    Odell, W D; Parker, L N

    The major adrenal androgens are dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulphate (DHEAS) and androstenedione (delta 4). Studies by Cutler et al in 1978 demonstrated that these androgens are detectable in blood of all domestic and laboratory animals studied, but that only 4 species show increase in one or more with sexual maturation: rabbit, dog, chimpanzee and man. Studies by Grover and Odell in 1975 show these androgens do not bind to the androgen receptor obtained from rat prostate and thus probably are androgens only by conversion to an active androgen in vivo. Thomas and Oake in 1974 showed human skin converted DHEA to testosterone. The control of adrenal androgen secretion is in part modulated by ACTH. However, other factors or hormones must exist also, for a variety of clinical observations show dissociation in adrenal androgen versus cortisol secretion. Other substances that have been said to be controllers of adrenal androgen secretion include estrogens, prolactin, growth hormone, gonadotropins and lipotropin. None of these appear to be the usual physiological modulator, although under some circumstances each may increase androgen production. Studies from our laboratory using in vivo experiments in the castrate dog and published in 1979 indicated that crude extracts of bovine pituitary contained a substance that either modified ACTH stimulation of adrenal androgen secretion, or stimulated secretion itself - Cortisol Androgen Stimulating Hormone. Parker et al in 1983 showed a 60,000 MW glycoprotein was extractable from human pituitaries, which stimulated DHA secretion by dispersed canine adrenal cells in vitro, but did not stimulate cortisol secretion. This material contained no ACTH by radioimmunoassay. In 1982 Brubaker et al reported a substance was also present in human fetal pituitaries, which stimulated DHA secretion, but did not effect cortisol. PMID:6100259

  17. Adrenal regeneration hypertension prevented by thyroidectomy: a quantitative ultrastructural study of the regenerating adrenal cortex.

    OpenAIRE

    Conran, R. M.; Nickerson, P A

    1980-01-01

    Thyroparathyroidectomy (TPX) prevents adrenal regeneration hypertension (ARH) in female rats and concomitantly inhibits regeneration of the adrenal cortex. Removal of the thyroid gland plays the major role in preventing ARH inasmuch as parathyroidectomized adrenal-enucleated (PX-AE) rats became hypertensive, whereas thyroparathyroidectomized adrenal-enucleated rats (TPX-AE + PT) did not. Inhibition of adrenocortical regneration by TPX is reflected by a significant decrease in adrenal weight, ...

  18. Adrenal insufficiency and adrenal replacement therapy. Current status in Spain.

    Science.gov (United States)

    Aulinas, Anna; Casanueva, Felipe; Goñi, Fernando; Monereo, Susana; Moreno, Basilio; Picó, Antonio; Puig-Domingo, Manel; Salvador, Javier; Tinahones, Francisco J; Webb, Susan M

    2013-03-01

    Adrenal insufficiency (AI) is a rare endocrine disease, associated to increased mortality if left untreated. It can be due to a primary failure of the adrenal glands (primary AI) or malfunctioning of the hypothalamic-pituitary-adrenal axis (HPA) (secondary AI). The lack of data on incidence/prevalence of adrenal insufficiency in Spain complicates any evaluation of the magnitude of the problem in our country. Initial symptoms are non-specific, so often there is a delay in diagnosis. Current therapy with available glucocorticoids is associated with decreased quality of life in patients with treated AI, as well as with increased mortality and morbidity, probably related to both over-treatment and lack of hydrocortisone, associated with non-physiological peaks and troughs of the drug over the 24 hours. The availability of a new drug with a modified dual release (immediate and retarded), that requires one only daily dose, improves and simplifies the treatment, increases compliance as well as quality of life, morbidity and possibly mortality. This revision deals with the knowledge on the situation both globally and in Spain, prior to the availability of this new drug.

  19. Adrenal pseudocyst. Radiological finds. Pseudoiquiste adrenal. Hallazgos radiologicos

    Energy Technology Data Exchange (ETDEWEB)

    Ortega, E.; Lopez Rasines, G.; Bustos, A.; Otero, M.; Rodriguez, M.I.; Pagola, M.A. (Hospital Nacional Marques de Valdecilla, Santanders (Spain))

    1991-01-01

    Adrenal cysts are infrequent, the pseudocysts being those that most often produce clinical symptoms. A case of pseudocyst in right suprarenal gland is presented in a young woman with no clinical history, who was studied by means of ultrasound (US) and computerized tomography (CT). (author)

  20. Adult congenital heart disease

    OpenAIRE

    Morphet, John AM

    2006-01-01

    One million people over the age of 20 suffer from congenital heart disease in the United States. These adult patients can slip through the cracks of our medical system; many are too old to be cared for in most pediatric institutions by pediatric cardiologists and, unfortunately, most adult cardiologists are not trained in congenital heart disease. Therefore, it is important to identify the common lesions in adult congenital heart disease and how they should be managed. Acyanotic congenital he...

  1. Classics Online.

    Science.gov (United States)

    Clayman, Dee L.

    1995-01-01

    Appraises several databases devoted to classical literature. Thesaurus Linguae Graecae (TLG) contains the entire extant corpus of ancient Greek literature, including works on lexicography and historiography, extending into the 15th century. Other works awaiting completion are the Database of Classical Bibliography and a CD-ROM pictorial dictionary…

  2. Classical integrability

    Science.gov (United States)

    Torrielli, Alessandro

    2016-08-01

    We review some essential aspects of classically integrable systems. The detailed outline of the sections consists of: 1. Introduction and motivation, with historical remarks; 2. Liouville theorem and action-angle variables, with examples (harmonic oscillator, Kepler problem); 3. Algebraic tools: Lax pairs, monodromy and transfer matrices, classical r-matrices and exchange relations, non-ultralocal Poisson brackets, with examples (non-linear Schrödinger model, principal chiral field); 4. Features of classical r-matrices: Belavin–Drinfeld theorems, analyticity properties, and lift of the classical structures to quantum groups; 5. Classical inverse scattering method to solve integrable differential equations: soliton solutions, spectral properties and the Gel’fand–Levitan–Marchenko equation, with examples (KdV equation, Sine-Gordon model). Prepared for the Durham Young Researchers Integrability School, organised by the GATIS network. This is part of a collection of lecture notes.

  3. Adrenal lymphangioma removed by a retroperitoneoscopic procedure.

    Science.gov (United States)

    Liu, Ben; Li, Yanyuan; Wang, Shuo

    2013-02-01

    We report a case of an adrenal lymphangioma removed by retroperitoneal laparoscopy. A 45-year-old female was referred to the urological ward for an adrenal mass that was incidentally detected by ultrasound examination one month earlier. An abdominal ultrasonography (US) scan revealed a 3.0 cm anechoic cystic mass, while a computed tomography (CT) scan revealed a 3.0×2.7 cm left adrenal cystic mass, which was suspected to be an adrenal cyst. The patient underwent retroperitoneoscopic removal of the tumor. Pathological evaluation revealed a cystic lymphangioma in the left adrenal gland.

  4. Adrenal adrenoceptors in heart failure

    Directory of Open Access Journals (Sweden)

    Claudio ede Lucia

    2014-07-01

    Full Text Available Heart failure (HF is a chronic clinical syndrome characterized by the reduction in left ventricular (LV function and it represents one of the most important causes of morbidity and mortality worldwide. Despite considerable advances in pharmacological treatment, HF represents a severe clinical and social burden. Sympathetic outflow, characterized by increased circulating catecholamines (CAs biosynthesis and secretion, is peculiar in HF and sympatholytic treatments (as β-blockers are presently being investigated for the treatment of this disease. Adrenal gland secretes Epinephrine (80% and Norepinephrine (20% in response to acetylcholine stimulation of nicotinic cholinergic receptors on the chromaffin cell membranes. This process is regulated by adrenergic receptors (ARs: α2ARs inhibit CA release through coupling to inhibitory Gi-proteins, and βARs (mainly β2ARs stimulate CA release through coupling to stimulatory Gs-proteins. All ARs are G-protein-coupled receptors (GPCRs and GPCR kinases (GRKs regulate their signaling and function. Adrenal GRK2-mediated α2AR desensitization and downregulation are increased in HF and seem to be a fundamental regulator of CA secretion from the adrenal gland. Consequently, restoration of adrenal a2AR signaling through the inhibition of GRK2 is a fascinating sympatholytic therapeutic strategy for chronic HF. This strategy could have several significant advantages over existing HF pharmacotherapies (antiadrenergic, such as bAR-blockers minimizing side-effects on extra-cardiac tissues and reducing the chronic activation of the renin–angiotensin–aldosterone and endothelin systems.The role of adrenal ARs in regulation of sympathetic hyperactivity opens interesting perspectives in understanding pathophysiology of HF and identifying new potential therapeutic targets.

  5. Intraoperative identification of adrenal-renal fusion

    Science.gov (United States)

    Boll, Griffin; Rattan, Rishi; Yilmaz, Osman; Tarnoff, Michael E

    2015-01-01

    Adrenal - renal fusion is a rare entity defined as incomplete encapsulation of the adrenal gland and kidney with histologically adjacent functional tissue. This report describes the first published intraoperative identification of this anomaly during laparoscopic adrenalectomy. The patient was a 59-year-old man with chronic hypertension refractory to multiple antihypertensives found to be caused by a right-sided aldosterone-producing adrenal adenoma in the setting of bilateral adrenal hyperplasia. During laparoscopic adrenalectomy, the normal avascular plane between the kidney and adrenal gland was absent. Pathologic evaluation confirmed adrenal - renal fusion without adrenal heterotopia. Identified intraoperatively, this may be misdiagnosed as invasive malignancy, and thus awareness of this anomaly may help prevent unnecessarily morbid resection. PMID:26195881

  6. [Adrenal injury in blunt abdominal trauma].

    Science.gov (United States)

    Abakumov, M M; Smoliar, A N; Barmina, T G; Boĭko, A V; Shalimova, I G

    2009-01-01

    10 patients with adrenal damage were observed during 2.5 years. It amounted 0.93% of all patients with closed abdominal injuries. The right adrenal gland was traumatized in all cases evidently due to it's compression between right lobe of liver and vertebral column. Adrenal damage is observed quite often in combination with injuries of right liver lobe, right kidney and retroperitoneal hematoma formation. 5 patients underwent laparotomy on account of intra-abdominal bleeding, but adrenal damage was never revealed. Ultrasound and tomographic semiotics of adrenal damage was worked out, which allowed ascertaining diagnosis in 80% on application of ultrasound study and in 100% at computer tomography. Injury of one adrenal gland was not accompanied by adrenal failure and did not require hormonal replacement therapy.

  7. Silent intravascular lymphoma initially manifesting as a unilateral adrenal incidentaloma.

    Science.gov (United States)

    Takahashi, Yoshiko; Iida, Keiji; Hino, Yasuhisa; Ohara, Takeshi; Kurahashi, Toshifumi; Tashiro, Takashi; Chihara, Kazuo

    2012-01-01

    Intravascular large B-cell lymphoma (IVLBCL) is a rare subtype of malignant lymphoma. Although the involvement of adrenal glands in IVLBCL is often observed, primary adrenal IVLBCL is rare. Most reported cases of adrenal IVLBCL showed bilateral lesions resulting in rapidly progressive adrenal failure and poor prognosis. Here, we report a case of slowly progressive primary adrenal IVLBCL manifesting initially with unilateral adrenal incidentaloma. This case is a silent IVLBCL and shows that the enlargement of both adrenal glands can be followed.

  8. Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.

    Science.gov (United States)

    El-Khairi, Ranna; Martinez-Aguayo, Alejandro; Ferraz-de-Souza, Bruno; Lin, Lin; Achermann, John C

    2011-01-01

    The nuclear receptor transcription factors DAX-1 (NR0B1) and SF-1 (NR5A1) regulate many aspects of adrenal and reproductive development and function. Disruption of the genes encoding these factors can be associated with pediatric adrenal disease. DAX-1 mutations are classically associated with X-linked adrenal hypoplasia congenita, hypogonadotropic hypogonadism and impaired spermatogenesis. However, other phenotypes are also being reported, such as isolated mineralocorticoid insufficiency, premature sexual development, primary adrenal insufficiency in a 46, XX patient and late-onset X-linked adrenal hypoplasia congenita and/or hypogonadotropic hypogonadism. SF-1 mutations have also been associated with primary adrenal insufficiency, together with 46, XY disorders of sex development. However it is emerging that SF-1 changes are a relatively rare cause of primary adrenal failure in humans, and most individuals with SF-1 mutations have a spectrum of 46, XY disorders of sex development phenotypes. These conditions range from 46, XY females with streak gonads and müllerian structures, through children with ambiguous genitalia and inguinal testes, to severe penoscrotal hypospadias with undescended testes. Therefore, the human gonad appears to be more sensitive than the adrenal gland to loss of SF-1 function. This review will focus on the expanding range of phenotypes associated with DAX-1 and SF-1 mutations.

  9. Classical Motion

    OpenAIRE

    Mould, Richard A

    2003-01-01

    Preciously given rules allow conscious systems to be included in quantum mechanical systems. There rules are derived from the empirical experience of an observer who witnesses a quantum mechanical interaction leading to the capture of a single particle. In the present paper it is shown that purely classical changes experienced by an observer are consistent with these rules. Three different interactions are considered, two of which combine classical and quantum mechanical changes. The previous...

  10. Primary bilateral adrenal intravascular large B-cell lymphoma associated with adrenal failure.

    Science.gov (United States)

    Fukushima, Ayumi; Okada, Yosuke; Tanikawa, Takahisa; Onaka, Takashi; Tanaka, Aya; Higashi, Takehiro; Tsukada, Junichi; Tanaka, Yoshiya

    2003-07-01

    We report a rare case of bilateral primary adrenal non-Hodgkin's lymphoma with adrenal failure. A 66-year-old woman developed symptoms of adrenal failure. The cause of adrenal failure was suspected to be malignant lymphoma based on the high levels of serum soluble interleukin-2 receptor and LDH. Bilateral adrenalectomy was performed and pathological examination showed intravascular large B-cell lymphoma (IVL). Although complete remission was achieved, recurrence occurred three months later with brain metastases. IVL should be suspected in patients with bilateral adrenal tumors who present with rapidly progressive adrenal failure.

  11. [Congenital Esophageal Atresia].

    Science.gov (United States)

    Suzuki, Makoto; Kuwano, Hiroyuki

    2015-07-01

    In this report, we describe the esophageal atresia in terms of current surgical management on the basis of our experience and literatures. Traditionally, infants with esophageal atresia have presented shortly after birth because of an inability to pass an orogastric tube, respiratory distress, or an inability to tolerate feeding. And also, an isolated trachea-esophageal fistula (TEF) usually cases coughing, recurrent pneumonia, or choking during feedings. To ignore these symptoms is to risk a delayed diagnosis. The condition may be associated with other major congenital anomalies such as those seen in the vertebral, anal, cardiac, tracheo-esophageal, renal/radial (VACTER) association, or it may be an isolated defect. Therapeutic strategies for esophageal atresia are a prevention of pulmonary complication by TEF closing and an early establishment of enteral alimentation. We promptly repair healthy infants without performing a gastrostomy and delay repair in infants with high-risk factors such as associated severe cardiac anomaly and respiratory insufficiency. Esophageal atresia has been classically approached through a thoracotomy. The disadvantages of such a thoracotomy have been recognized for a long time, for example winged scapula, elevation of fixation of shoulder, asymmetry of the chest wall, rib fusion, scoliosis, and breast and pectoral muscle maldevelopment. To avoid such disadvantages, thoracoscopic repair was recently reported. PMID:26197921

  12. Functional paraganglioma extra-adrenal

    International Nuclear Information System (INIS)

    Functioning paragangliomas are rare tumours that produce catecholamines.They originate from extra-adrenal chromaffin cells. They are frequently malignant and are associated with high incidence of persistent or recurrent disease after their primary treatment. They are known as glomus, chemodectomas, chromaffin paragangliomas and glomerulocytomas. The location is diverse and reflects the paragangliomar distribution in the body from the base of the skull to the pelvic floor. The paragangliomas are found where there are nodes of the autonomous system, however, approximately 90% of these tumours appear in the adrenal glands (and they constitute the pheochromocytomas) and the remaining 10% is a location extra adrenal, but it has been said that its impact can be underestimated, ranging from 18% to 22% in adults and children up to 30%. The extra-adrenal are originated more frequently in the abdomen (85%), other in the chest (12%) and more rarely in the head and neck (3%). Imaging studies and measurement of non-physiological production of catecholamines may aid in the diagnosis of this entity. Surgery is the treatment of choice. It is presented the case of a primigravidas patient aged 32 with HTAIE requiring caesarean section, who had a postpartum torpid and despite to multiple antihypertensive treatments their pathology was difficult to deal, with ophthalmic complications. Some time later, the patient is studied by hyperhidrosis, laboratory tests and images are requested and it is documented incidentally, a left retroperitoneal tumour, the studies are expanded and reach the correct diagnosis. The tumour required surgical resection. The patient had a satisfactory postoperative period and she discharged with control in the external consultation. (author)

  13. Laparoscopic Resection of an Adrenal Schwannoma

    Science.gov (United States)

    Konstantinos, Toutouzas G.; Panagiotis, Kekis B.; Nikolaos, Michalopoulos V.; Ioannis, Flessas; Andreas, Manouras; Geogrios, Zografos

    2012-01-01

    Background and Objectives: Schwannomas are tumors originating from Schwann cells of the peripheral nerve sheath (neurilemma) of the neuroectoderm. Rarely, schwannomas can arise from the retroperitoneum and adrenal medulla. We describe a case of a 71-y-old woman who presented with an incidentally discovered adrenal tumor. Methods: Ultrasound and computed tomography scans revealed a lesion with solid and cystic areas originating from the left adrenal gland. The patient underwent complete laparoscopic resection of the tumor and the left adrenal gland. Results: Histopathological examination and immunohistochemical staining of the excised specimen revealed a benign schwannoma measuring 5.5×5×3.7 cm. To our knowledge, few other cases of laparoscopic resection of adrenal schwannomas have been reported. Conclusion: Because preoperative diagnosis of adrenal tumors is inconclusive, complete laparoscopic excision allows for definitive diagnosis with histological evaluation and represents the treatment of choice. PMID:23484583

  14. Laparoscopic Management of a Complex Adrenal Cyst

    Directory of Open Access Journals (Sweden)

    Koichi Kodama

    2015-01-01

    Full Text Available Adrenal cysts are rare, and their clinical management remains controversial. We report a case involving an adrenal cyst with a complicated appearance on radiological studies. Unenhanced computed tomography revealed a unilocular, noncalcified, hypoattenuating mass with a thin wall in the left adrenal gland. The lesion gradually increased in size from 10 to 50 mm at two-year follow-up. On contrast-enhanced magnetic resonance imaging, a mural nodule with contrast enhancement was observed. The entire adrenal gland was excised en bloc via a lateral transperitoneal laparoscopic approach without violating the principles of surgical oncology. The pathological diagnosis was an adrenal pseudocyst. Laparoscopic adrenalectomy is a safe option for the treatment of complex adrenal cysts, while maintaining the benefits of minimal invasiveness.

  15. Classical electrodynamics

    CERN Document Server

    Schwinger, Julian Seymour; Milton, K A; Tsai, W Y

    1998-01-01

    This text for the graduate classical electrodynamics course was left unfinished upon Julian Schwinger's death in 1994, but was completed by his coauthors, who have brilliantly recreated the excitement of Schwinger's novel approach. Classical Electrodynamics captures Schwinger's inimitable lecturing style, in which everything flows inexorably from what has gone before. An essential resource for both physicists and their students, the book includes a "Reader's Guide", which describes the major themes in each chapter, suggests a possible path through the book, and identifies topics for inclusion

  16. Classical Motion

    CERN Document Server

    Mould, R A

    2003-01-01

    Preciously given rules allow conscious systems to be included in quantum mechanical systems. There rules are derived from the empirical experience of an observer who witnesses a quantum mechanical interaction leading to the capture of a single particle. In the present paper it is shown that purely classical changes experienced by an observer are consistent with these rules. Three different interactions are considered, two of which combine classical and quantum mechanical changes. The previously given rules support all of these cases. Key Words: brain states, conscious observer, detector, measurement, probability current, state reduction, von Neumann, wave collapse.

  17. Genetics of congenital hypothyroidism

    OpenAIRE

    Park, S.; Chatterjee, V

    2005-01-01

    Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causin...

  18. Radiological case: congenital scoliosis

    OpenAIRE

    Macedo, F.

    2010-01-01

    ABSTRACT We present a case of a two month old infant with clinical suspicion of congenital torticollis because of lateral flexion of the head and neck since birth. There was no response to physiotherapy and the neck ultrasound was normal. An x-ray of the cervical and dorsal spine showed congenital scoliosis with failure of formation in certain vertebras. The diagnosis of congenital scoliosis must be considered in cases of abnormal tilting of the head and neck.

  19. Adrenal Failure due to Adrenal Metastasis of Lung Cancer: A Case Report

    Science.gov (United States)

    Faulhaber, Gustavo Adolpho Moreira; Borges, Flavia Kessler; Ascoli, Aline Maria; Seligman, Renato; Furlanetto, Tania Weber

    2011-01-01

    We report a case of a patient with adrenal failure due to bilateral adrenal metastasis of lung cancer. This is a rare presentation of lung cancer. We review the differential diagnosis of weight loss and how to make diagnosis of adrenal insufficiency. PMID:22606443

  20. Adrenal Failure due to Adrenal Metastasis of Lung Cancer: A Case Report

    Directory of Open Access Journals (Sweden)

    Gustavo Adolpho Moreira Faulhaber

    2011-01-01

    Full Text Available We report a case of a patient with adrenal failure due to bilateral adrenal metastasis of lung cancer. This is a rare presentation of lung cancer. We review the differential diagnosis of weight loss and how to make diagnosis of adrenal insufficiency.

  1. Adrenal Myelolipoma- A Rare Case Report

    Directory of Open Access Journals (Sweden)

    Vijayalaxmi V. Suranagi

    2009-05-01

    Full Text Available Adrenal myelolipoma (AML is a rare benign tumour composed of mature adipose tissue and hematopoietic tissue. Very few cases have been reported. Most of these patients are asymptomatic. We present a rare case of Adrenal Myelolipoma where the patient presented with hypertension and a clinical suspicion of Pheochromocytoma, which turned out to be an Adrenal myelolipoma. Adrenal myelolipoma is a rare entity, not encountered frequently and can occur as an incidental finding. Awareness regarding this entity is very much essential to exclude surgical exploration or extensive surgery.

  2. Congenital symmastia revisited

    DEFF Research Database (Denmark)

    Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans Erik;

    2012-01-01

    Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia i...

  3. Congenital Hepatic Fibrosis

    Directory of Open Access Journals (Sweden)

    MH Antikchi

    2010-09-01

    Full Text Available Congenital hepatic fibrosis (CHF is a rare disease that primarily involves hepatobiliary and renal systems. It is characterized by hepatic fibrosis, portal hypertension and renal cystic disease. We present a 22 years old man with fever, abdominal pain, icterus and hematemesis. On complete work up of the patient and liver with kidney biopsy, the diagnosis was congenital hepatic fibrosis.

  4. Congenital Insensitivity to Pain

    Directory of Open Access Journals (Sweden)

    Praveen Kumar B,

    2011-01-01

    Full Text Available Congenital Insensitivity to Pain belongs to the family of Hereditary Sensory and Autonomic Neuropathies (HSAN. It is a rare disorder of unknown etiology associated with loss of pain sensation. Cognition and sensation is otherwise normal and there is no detectable physical abnormality. We report a case of Congenital Insensitivity to Pain in a 3 year old female child.

  5. Key aspects congenital infection

    Directory of Open Access Journals (Sweden)

    Yu. V. Lobzin

    2014-01-01

    Full Text Available The key questions to solve the problem of congenital infection in the Russian Federation are: using in national practice over world accepted terminology adapted to the recommendations of the World Health Organization; representation of the modern concepts of an infectious process in the classification of congenital infections; scientific development and introducing in clinical practice the «standard case definitions», applied to different congenital infections; optimization of protocols and clinical guidelines for diagnosis, treatment and prevention of congenital infections; improvement a knowledge in the infectious disease for all  pecialists involved in the risk assessment of congenital infections, manage pregnancy and children. Based on our experience and analysis of publications, the authors suggest possible solutions.

  6. Merosin-Deficient Congenital Muscular Dystrophy (MDCMD): A Case Report with MRI, MRS and DTI Findings

    OpenAIRE

    Ip, Janice JK; Hui, Peter KT; Chau, MT; Lam, Wendy WM

    2012-01-01

    Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders present at birth with muscle weakness, hypotonia and contractures. Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth. A particular subset of classic CMD is characterized by a complete absence of merosin. Merosin-deficient congenital muscular dystrophy (MDCMD) is a rare genetic disease involving the central and periphe...

  7. Unilateral adrenal hemorrhagic infarction in essential thrombocythemia.

    Science.gov (United States)

    Burnet, G; Lambert, M; Annet, L; Lefebvre, C

    2015-12-01

    Adrenal hemorrhage is a rare disease associated with various conditions. We report a case of a 68-year-old woman with abdominal and back pain. The diagnostic work-up showed a left adrenal gland infarction associated with essential thrombocythemia. Treatment consisted in painkillers and treating the underlying condition in order to prevent further thrombotic events.

  8. Genetics Home Reference: primary macronodular adrenal hyperplasia

    Science.gov (United States)

    ... hormone-producing glands located on top of each kidney. These nodules, which usually are found in both adrenal glands (bilateral) and vary in size, cause adrenal gland enlargement (hyperplasia) and result in the production of higher-than-normal levels of the hormone cortisol. Cortisol is an ...

  9. Bilateral spontaneous adrenal haemorrhage complicating acute pancreatitis

    International Nuclear Information System (INIS)

    Bilateral adrenal haemorrhage is an event that mandates prompt diagnosis and treatment to prevent primary adrenocortical insufficiency and potential death. Presentation can be non-specific and incidentally diagnosed with imaging alone, primarily CT. We present a case of acute pancreatitis with spontaneous bilateral adrenal haemorrhage and briefly discuss imaging and treatment implications

  10. Severe Hyperkalemia and Bilateral Adrenal Metastasis

    Directory of Open Access Journals (Sweden)

    Michael Nagler

    2009-01-01

    Full Text Available Adrenal metastases are a common finding in metastatic lung and breast cancer. Often there are no clinical symptoms suggesting them. In this paper, we present a case of a 66-year-old man with metastatic lung cancer suffering from severe hyperkaliemia due to hypoaldosteronism as a result of bilateral adrenal metastasis.

  11. Diagnosis and management of adrenal insufficiency.

    Science.gov (United States)

    Bancos, Irina; Hahner, Stefanie; Tomlinson, Jeremy; Arlt, Wiebke

    2015-03-01

    Adrenal insufficiency continues to be a challenge for patients, their physicians, and researchers. During the past decade, long-term studies have shown increased mortality and morbidity and impaired quality of life in patients with adrenal insufficiency. These findings might, at least partially, be due to the failure of glucocorticoid replacement therapy to closely resemble physiological diurnal secretion of cortisol. The potential effect of newly developed glucocorticoid drugs is a focus of research, as are the mechanisms potentially underlying increased morbidity and mortality. Adrenal crisis remains a threat to lives, and awareness and preventative measures now receive increasing attention. Awareness should be raised in medical teams and patients about adrenal insufficiency and management of adrenal crisis to improve clinical outcome.

  12. Congenital anomalies associated with hypothyroidism.

    OpenAIRE

    Bamforth, J S; Hughes, I; Lazarus, J; John, R.

    1986-01-01

    Seven of the 34 infants identified through the Welsh Hypothyroid Screening Programme have additional congenital abnormalities. Two infants have a previously undescribed syndrome, two have chromosomal abnormalities, two have congenital heart disease, and one has a myelomeningocoele. Congenital hypothyroidism often seems to be associated with other congenital abnormalities.

  13. Bronchogenic cyst mimicking an adrenal mass in the retroperitoneal region: Report of a rare case

    Directory of Open Access Journals (Sweden)

    Gulay Bulut

    2015-01-01

    Full Text Available We report the surgical excision of a retroperitoneal bronchogenic cyst that presented as a nonfunctioning left adrenal mass in a 25-year-old woman with continuous pain in the left flank. Preoperative biochemical testing confirmed that the mass was nonfunctional. Bronchogenic cysts are mostly benign congenital abnormalities that originate from the remnants of the primitive foregut and typically occur in the lung. Subdiaphragmatic and especially, retroperitoneal locations are rare. Despite the rarity of this pathologic entity, bronchogenic cysts should be considered in the differential diagnosis of retroperitoneal cystic lesions. Diagnosis must be definitively confirmed by histology.

  14. Bronchogenic cyst mimicking an adrenal mass in the retroperitoneal region: report of a rare case.

    Science.gov (United States)

    Bulut, Gulay; Bulut, Mehmet Deniz; Bahadır, Inci; Kotan, Çetin

    2015-01-01

    We report the surgical excision of a retroperitoneal bronchogenic cyst that presented as a nonfunctioning left adrenal mass in a 25-year-old woman with continuous pain in the left flank. Preoperative biochemical testing confirmed that the mass was nonfunctional. Bronchogenic cysts are mostly benign congenital abnormalities that originate from the remnants of the primitive foregut and typically occur in the lung. Subdiaphragmatic and especially, retroperitoneal locations are rare. Despite the rarity of this pathologic entity, bronchogenic cysts should be considered in the differential diagnosis of retroperitoneal cystic lesions. Diagnosis must be definitively confirmed by histology.

  15. Unilateral adrenal tumor, erectile dysfunction and infertility in a patient with 21-hydroxylase deficiency: effects of glucocorticoid treatment and surgery.

    Science.gov (United States)

    Scaroni, C; Favia, G; Lumachi, F; Opocher, G; Bonanni, G; Mantero, F; Armanini, D

    2003-02-01

    In untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHDS) the presence of adrenal and testicular tumors had been described; however little is known about the effect of the enzymatic defect on fertility in males. We studied a male adult patient affected by 21OHDS for infertility, after a long period of discontinuation of glucocorticoid therapy and then during resumption of treatment and 8 months after monoadrenalectomy. The initial spermatic count revealed azoospermia and testicular needle aspiration showed a cytological picture consistent with prepuberty. The morphofunctional study revealed a right adrenal mass with reduced uptake at radioscan. Treatment was resumed with onset of impotency, which improved after reduction of the dose of glucocorticoids. The patient was monoadrenalectomised and his spermatic count increased. The patient shows that corticosteroid therapy in 21OHDS should be continued lifelong to avoid adrenal hyperplasia with possible areas of autonomy and to allow regular fertility. Impotence during treatment is probably due to a decrease of excessive adrenal androgens while testicular androgen production is still suppressed. PMID:12605349

  16. NROB1基因新突变所致先天性肾上腺发育不良患儿以中枢性性早熟发病%A patient with X-linked adrenal hypoplasia congenital and central precocious puberty caused by a novel NROB1 gene mutation

    Institute of Scientific and Technical Information of China (English)

    杜敏联; 李燕虹; 张军; 陈红珊

    2015-01-01

    Objective To explore the possible role of NROB1 gene played in regulating hypothalamic-pituitary-gonad axis(HPGA) by analyzing the clinical and molecular characteristics in a case of central precocious puberty(CPP) with NROB1 gene mutation. Methods Clinical characteristics and direct sequencing of NROB1 gene in the patient were analyzed. Results A 11-month-old boy with manifested premature puberty, enlargement of penis/testes, and penile erection, but without manifestations of adrenal insufficiency was reportd. Clinical diagnosis was adrenal hypoplasia congenita( AHC) with CPP. The NR0B1 gene sequencing revealed a novel mutation in exon 1 (913C> T). Conclusion NR0B1 gene mutation may lead to the development of CPP in the patient with AHC. However, the mechanism remains unclear and thus deserves further exploration.%目的:分析1例以中枢性性早熟(CPP)发病的 NROB1基因新突变患儿的临床和分子改变,探讨 NROB1对下丘脑-垂体-性腺轴(HPGA)调控的意义。方法总结病例的临床特征和基因直接测序。结果11月龄男性患儿,4月龄起阴毛萌生、阴茎/睾丸渐进增大伴勃起;生后无肾上腺皮质功能减退表现。诊断为先天性肾上腺发育不良(AHC)并 CPP。测序显示 NROB1基因外显子1(913C>T)突变。结论NROB1基因突变可能使得 AHC 患儿发生 CPP,确切机制需进一步研究。

  17. A case of human intramuscular adrenal gland transplantation as a cure for chronic adrenal insufficiency.

    Science.gov (United States)

    Grodstein, E; Hardy, M A; Goldstein, M J

    2010-02-01

    Intramuscular endocrine gland transplantation has been well described as it pertains to parathyroid autotransplantation; however, transplantation of the adrenal gland is less well characterized. While adrenal autotransplantation in the setting of Cushing's disease has been described, intramuscular adrenal allotransplantation as a cure for adrenal insufficiency to our knowledge has not been previously carried out. Current treatment for adrenal insufficiency leaves patients without diurnal variation in cortisol release and susceptible to the detrimental effects of chronic hypercortisolism. We describe here the case of a 5-year-old girl with renal failure who had adrenal insufficiency following fulminant meningococcemia that led to requirements for both stress-dose steroid and mineralocorticoid replacement. Ten months after the onset of her disease, she received a simultaneous renal and adrenal gland transplant from her mother. The adrenal gland allograft was morselized into 1 mm(3) segments and implanted into three 2 cm pockets created in her rectus abdominis muscle. Three years after surgery, her allograft remains fully functional, responding well to adrenocorticotropin hormone stimulation and the patient does not require any steroid or mineral-corticoid supplementation. We believe this case represents the first description of successful functional intramuscular adrenal allograft transplantation with long-term follow up as a cure for adrenal insufficiency.

  18. Congenital myasthenia gravis.

    Science.gov (United States)

    Nizamani, Noor Bakht; Talpur, Khalid Iqbal; Memon, Mariya Nazish

    2013-07-01

    Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness usually starting in childhood. A two and a half years old male child presented with bilateral ptosis and hoarseness of voice. The symptoms progressed giving the clinical impression of congenital myasthenia gravis. A series of tests were done including Ice Pack Test, acetylcholine receptor antibody test, trial of steroids and finally neostigmine test which confirmed the diagnosis. This case illustrates the challenges in diagnosing congenital myasthenia gravis and highlights the potential benefits of neostigmine test in its diagnosis. PMID:23823963

  19. Diagnosis of adrenal tumors with radionuclide imaging

    International Nuclear Information System (INIS)

    The development of radiolabeled cholesterols in 1969 as precursors of adrenocortical steroid production allowed the first noninvasive imaging of the adrenal cortices. FDA-NDA approval in 1984 should allow routine use of these agents in most hospitals. NP-59 is most commonly used in the diagnosis and management of Cushing syndrome; the second most common use is in the diagnosis of primary aldosteronism. It is also helpful in the differential diagnosis of adrenal and ovarian hyperandrogenism and hirsutism, and is the only noninvasive method of detecting unilateral adrenocortical hypofunction. The newest and most popular use is in the differential diagnosis of asymptomatic masses in the region of the adrenal gland discovered incidentally with CT scan (incidentalomas). In this situation, the NP-59 scan can define whether the tumor is in the adrenal gland and if it is functional or nonfunctional. The authors believe that, in the future, radiolabeled enzyme inhibitors might offer better diagnostic imaging of the adrenal cortex, although these agents will probably not be available for routine use for some time. The development of a radioiodinated guanethidine analog, 131I-MIBG, has allowed differentiation of normal adrenal medullary function from bilateral adrenal medullary hyperplasia before the development of hypertension or tachycardia, diagnostic increases in plasma or urinary catecholamines, or abnormal CT scans. The search for a pheochromocytoma should begin with 131I-MIBG scintigraphy. While over 90% of primary pheochromocytomas occur in the abdomen, neither a survey of the abdomen nor the finding of a single tumor should conclude the search

  20. Therapy of adrenal insufficiency: an update.

    Science.gov (United States)

    Falorni, Alberto; Minarelli, Viviana; Morelli, Silvia

    2013-06-01

    Adrenal insufficiency may be caused by the destruction or altered function of the adrenal gland with a primary deficit in cortisol secretion (primary adrenal insufficiency) or by hypothalamic-pituitary pathologies determining a deficit of ACTH (secondary adrenal insufficiency). The clinical picture is determined by the glucocorticoid deficit, which may in some conditions be accompanied by a deficit of mineralcorticoids and adrenal androgens. The substitutive treatment is aimed at reducing the signs and symptoms of the disease as well as at preventing the development of an addisonian crisis, a clinical emergency characterized by hypovolemic shock. The oral substitutive treatment should attempt at mimicking the normal circadian profile of cortisol secretion, by using the lower possible doses able to guarantee an adequate quality of life to patients. The currently available hydrocortisone or cortisone acetate preparations do not allow an accurate reproduction of the physiological secretion pattern of cortisol. A novel dual-release formulation of hydrocortisone, recently approved by EMEA, represents an advancement in the optimization of the clinical management of patients with adrenal insufficiency. Future clinical trials of immunomodulation or immunoprevention will test the possibility to delay (or prevent) the autoimmune destruction of the adrenal gland in autoimmune Addison's disease. PMID:23179775

  1. Clinicopathological correlates of adrenal Cushing's syndrome.

    Science.gov (United States)

    Duan, Kai; Gomez Hernandez, Karen; Mete, Ozgur

    2015-03-01

    Endogenous Cushing's syndrome is a rare endocrine disorder that incurs significant cardiovascular morbidity and mortality, due to glucocorticoid excess. It comprises adrenal (20%) and non-adrenal (80%) aetiologies. While the majority of cases are attributed to pituitary or ectopic corticotropin (ACTH) overproduction, primary cortisol-producing adrenal cortical lesions are increasingly recognised in the pathophysiology of Cushing's syndrome. Our understanding of this disease has progressed substantially over the past decade. Recently, important mechanisms underlying the pathogenesis of adrenal hypercortisolism have been elucidated with the discovery of mutations in cyclic AMP signalling (PRKACA, PRKAR1A, GNAS, PDE11A, PDE8B), armadillo repeat containing 5 gene (ARMC5) a putative tumour suppressor gene, aberrant G-protein-coupled receptors, and intra-adrenal secretion of ACTH. Accurate subtyping of Cushing's syndrome is crucial for treatment decision-making and requires a complete integration of clinical, biochemical, imaging and pathology findings. Pathological correlates in the adrenal glands include hyperplasia, adenoma and carcinoma. While the most common presentation is diffuse adrenocortical hyperplasia secondary to excess ACTH production, this entity is usually treated with pituitary or ectopic tumour resection. Therefore, when confronted with adrenalectomy specimens in the setting of Cushing's syndrome, surgical pathologists are most commonly exposed to adrenocortical adenomas, carcinomas and primary macronodular or micronodular hyperplasia. This review provides an update on the rapidly evolving knowledge of adrenal Cushing's syndrome and discusses the clinicopathological correlations of this important disease.

  2. Normal dexamethasone-suppression adrenal scintiscan

    International Nuclear Information System (INIS)

    To establish the parameters of adrenal imaging under dexamethasone suppression (DS), 18 normotensive, normal male volunteers underwent dexamethasone-suppression adrenal scintiscanning. Five control groups were established and given dexamethasone, either 8 mg for 2 days or 4 mg for 7 days before 6β-[1311]iodomethyl-norcholesterol (NP-59) administration. NP-59 was given in doses of 2, 1, or 0.5 mCi. Early visualization (3-5 days) of the adrenals was noted in the groups on the 8 mg DS regimen with either 1 or 2 mCi of NP-59. Late visualization (5-7 days) was noted in the groups that received 4 mg DS and either 2, 1, or 0.5 mCi of MP-59, respectively. The normal adrenal will demonstrate uptake of NP-59 under DS, and the duration of DS before imaging is the critical factor as to when discernible adrenal visualization will occur. The documentation of the normal suppression interval on these DS regimens provides a basis for the correct diagnostic interpretation of adrenal hyperfunction as seen on the dexamethasone-suppression NP-59 adrenal scan

  3. Classical tachyons

    International Nuclear Information System (INIS)

    A review of tachyons, with particular attention to their classical theory, is presented. The extension of Special Relativity to tachyons in two dimensional is first presented, an elegant model-theory which allows a better understanding also of ordinary physics. Then, the results are extended to the four-dimensional case (particular on tachyon mechanics) that can be derived without assuming the existence of Super-luminal reference-frames. Localizability and the unexpected apparent shape of tachyonic objects are discussed, and it is shown (on the basis of tachyon kinematics) how to solve the common causal paradoxes. In connection with General Relativity, particularly the problem of the apparent superluminal expansions in astrophysics is reviewed. The problem (still open) of the extension of relativitic theories to tachyons in four dimensions is tackled, and the electromagnetic theory of tachyons, a topic that can be relevant also for the experimental side, is reviewed. (Author)

  4. Silent Intravascular Lymphoma Initially Manifesting as a Unilateral Adrenal Incidentaloma

    Directory of Open Access Journals (Sweden)

    Yoshiko Takahashi

    2012-01-01

    Full Text Available Intravascular large B-cell lymphoma (IVLBCL is a rare subtype of malignant lymphoma. Although the involvement of adrenal glands in IVLBCL is often observed, primary adrenal IVLBCL is rare. Most reported cases of adrenal IVLBCL showed bilateral lesions resulting in rapidly progressive adrenal failure and poor prognosis. Here, we report a case of slowly progressive primary adrenal IVLBCL manifesting initially with unilateral adrenal incidentaloma. This case is a silent IVLBCL and shows that the enlargement of both adrenal glands can be followed.

  5. Congenital heart disease

    Science.gov (United States)

    ... blood sugar level. Certain genes may play a role in congenital heart disease. Many family members may be affected. Talk to your provider about genetic counseling and screening if you have a family history ...

  6. Congenital lobar emphysema

    Science.gov (United States)

    Tural-Kara, Tuğçe; Özdemir, Halil; Çiftçi, Ergin; İnce, Erdal

    2016-01-01

    Congenital lobar emphysema is a rare disease, which is characterized by pulmoner hyperinflation. Depending on the degree of bronchial obstruction, the clinical presentation may be variable. We report a rare case with congenital lobar emphysema in a 38-days-old male infant who presented with severe respiratory distress and hypertension. Air trapping in the left upper lung and significant mediastinal shift to the right were observed on the chest x-ray. Emphysematous changes were detected on the thorax computed tomography and considered as congenital lobar emphysema. The upper left lobectomy was successfully performed by pediatric surgeons. On postoperative follow up, no sign of respiratory distress occurred and the patient was normotensive. In this report, a case with congenital lobar emphysema, which is a rare cause of respiratory distress and hypertension is discussed. PMID:27381542

  7. Congenital nephrotic syndrome

    Science.gov (United States)

    The disorder often leads to infection, malnutrition, and kidney failure. It can lead to death by age 5, and many children die within the first year. Congenital nephrotic syndrome may be controlled in some cases with early ...

  8. Congenital Ocular Motor Apraxia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-06-01

    Full Text Available The clinical and neuroradiological findings, and long-term intellectual prognosis in 10 patients (4 boys and 6 girls with congenital ocular motor apraxia (COMA are reviewed by researchers at Tottori University, Yonago, Japan.

  9. Congenital hyperinsulinism in Ukraine

    DEFF Research Database (Denmark)

    Globa, E.; Zelinska, N.; Flanagan, S.;

    2015-01-01

    Background: Congenital hyperinsulinism (CHI) has not been studied in the Ukraine. Objective and hypotheses: We investigated the genetic aetiology and treatment of patients with CHI. Method: Routine clinical and laboratory investigations were performed in children with hypoglycaemia. Genetic testi...

  10. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    For many reasons an accurate and straightforward identification of congenital deafblindness can be difficult. This article reports on the assessment procedures and experience in Denmark where medical examinations were combined with functional assessments performed through direct observation. The ...

  11. Congenital Ocular Motor Apraxia

    OpenAIRE

    J Gordon Millichap

    2007-01-01

    The clinical and neuroradiological findings, and long-term intellectual prognosis in 10 patients (4 boys and 6 girls) with congenital ocular motor apraxia (COMA) are reviewed by researchers at Tottori University, Yonago, Japan.

  12. Congenital histiocytosis X

    International Nuclear Information System (INIS)

    Congenital histiocytosis X involving multiple organs is a rare disease that causes rapid mortality in intrauterine and neanatal life. The diagnosis of histiocytosis X (Litterer-Siwe disease should be considered in a neonate with vesiculated crusting skin lesions. We present clinical, radiographic and histopathological findings in a neonate with congenital histiocytosis who died of respiratory failure due to diffuse infilteration of lungs with histiocytic cells. Congenital histiocytosis X is a rare form of Langerhans cell histiocytosis. We report on an infant with congenital histiocytosis X who died within 10 days of birth due to diffuse infiltration of multiple organ systems with Langerhans histiocytic cells. To our knowledge, this is the first case of the radiographic illustration of progressive lung involvement in an infant with histiocytosis X. (orig.)

  13. Adrenal pathology in childhood: a spectrum of disease

    Energy Technology Data Exchange (ETDEWEB)

    Paterson, Anne [Royal Belfast Hospital for Sick Children, 180 Falls Road, Belfast BT12 6BE (United Kingdom)

    2002-10-01

    Adrenal lesions in children may present with an asymptomatic adrenal mass lesion, an endocrinopathy, a hypertensive or metabolic crisis or a paraneoplastic syndrome. Some of the underlying disease processes remain localised within the adrenal gland or may develop into disseminated disease. The role of the radiologist is to confirm the adrenal location of a lesion and to document any other foci of disease. Ultrasound, CT, MR imaging and metaiodobenzylguanidine scintigraphy are the most commonly utilised imaging modalities for examining the adrenal glands and their pathologies in children. This paper reviews the spectrum of adrenal disease in childhood and presents the information as a series of radiological appearances: anomalies of adrenal shape, location, number and size, cystic adrenal masses, solid adrenal mass lesions, and adrenal calcifications are all examined. The radiological findings must always be interpreted in conjunction with the patient's age, the clinical history, the findings on physical examination and the available biochemical data. (orig.)

  14. Update on imaging diagnosis of adrenal tumors

    International Nuclear Information System (INIS)

    Imaging diagnosis of adrenal tumors is increasingly frequent. Characterization and differentiation of benign adenomas and malignant injures is very important, mainly in the patient with malignant or functioning disease. Computed tomography, magnetic resonance imaging and positron emission tomography/computed tomography allowed greater precision in characterizing and differentiating the adrenal masses in a non-invasive way. This review explained the physiological principles supporting these techniques, its advantages and restrictions. The main characteristics of the most frequent adrenal tumor images were described, in addition to submitting an algorithm for the use of these diagnostic means

  15. Congenital laryngeal anomalies,

    OpenAIRE

    Rutter, Michael J.

    2014-01-01

    Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the ma...

  16. Congenital chylous ascites

    OpenAIRE

    Romańska-Kita, Justyna; Borszewska-Kornacka, Maria Katarzyna; Dobrzańska, Anna; Rudzińska, Iwona; Czech-Kowalska, Justyna; Wawrzoniak, Tomasz

    2011-01-01

    Summary Congenital chylous ascites is a rare entity, conditioned by numerous factors and with changing dynamics of the disease. Because of the lack of therapeutic and diagnostic standards, this disease constitutes to be a medical challenge. This article presents current knowledge on pathogenesis, diagnostics and management of this disease, as well as a case of a newborn with primary congenital chylous ascites in the abdominal cavity.

  17. Congenital Cystic Lung Diseases

    Directory of Open Access Journals (Sweden)

    Aditi Jain

    2013-01-01

    Full Text Available Congenital cystic diseases of the lung are a rare but significant cause of morbidity in children and young adults presenting with respiratory distress and repeated chest infections. They consist of cystic adenomatoid malformation, bronchogenic cyst, pulmonary sequestration, and congenital lobar emphysema. Surgical treatment is a safe and an effective method of treatment. Chest X-ray and computed tomography are the key imaging modalities used for diagnosis.

  18. Evaluation of primary adrenal insufficiency secondary to tuberculous adrenalitis with computed tomography and magnetic resonance imaging:Current status

    Institute of Scientific and Technical Information of China (English)

    Yu-Cheng; Huang; Yu-Lian; Tang; Xiao-Ming; Zhang; Nan-Lin; Zeng; Rui; Li; Tian-Wu; Chen

    2015-01-01

    As one kind of infectious diseases of adrenal gland, adrenal tuberculosis can result in a life-threatening disorder which is called primary adrenal insufficiency(PAI) due to the destruction of adrenal cortex. Computed tomography(CT) and magnetic resonance imaging(MRI) play significant roles in the diagnosis of this etiology of PAI based on the CT and MRI appearances of the adrenal lesions. In this mini-review, we intend to study the CT and MRI features of adrenal tuberculosis, which could be helpful to both endocrinologist and radiologist to establish a definitive diagnosis for adrenal tuberculosis resulting in PAI.

  19. Bilateral adrenal myelolipoma in Cushing's disease: a relook into the role of corticotropin in adrenal tumourigenesis.

    Science.gov (United States)

    Chakraborty, Partha Pratim; Bhattacharjee, Rana; Mukhopadhyay, Pradip; Chowdhury, Subhankar

    2016-01-01

    Adrenal myelolipomas are infrequently encountered benign tumours of unknown aetiology. In the majority of cases they are unilateral, and clinically and hormonally silent, only requiring periodic follow-up. However, bilateral adrenal myelolipomas are sometimes associated with endocrine disorders and warrant appropriate evaluation. Though the understanding of the pathophysiology of adrenal myelolipomas has long been elusive, adrenocorticotropic hormone (ACTH) has been proposed as the main tropic factor in a number of studies. Cushing's disease is rarely associated with bilateral and sometimes giant myelolipomas. In this article, the association of bilateral adrenal myelolipomas with Cushing's disease has been discussed and the role of ACTH in the tumourigenesis has been reviewed.

  20. Bilateral adrenal myelolipoma in Cushing's disease: a relook into the role of corticotropin in adrenal tumourigenesis.

    Science.gov (United States)

    Chakraborty, Partha Pratim; Bhattacharjee, Rana; Mukhopadhyay, Pradip; Chowdhury, Subhankar

    2016-01-01

    Adrenal myelolipomas are infrequently encountered benign tumours of unknown aetiology. In the majority of cases they are unilateral, and clinically and hormonally silent, only requiring periodic follow-up. However, bilateral adrenal myelolipomas are sometimes associated with endocrine disorders and warrant appropriate evaluation. Though the understanding of the pathophysiology of adrenal myelolipomas has long been elusive, adrenocorticotropic hormone (ACTH) has been proposed as the main tropic factor in a number of studies. Cushing's disease is rarely associated with bilateral and sometimes giant myelolipomas. In this article, the association of bilateral adrenal myelolipomas with Cushing's disease has been discussed and the role of ACTH in the tumourigenesis has been reviewed. PMID:27307426

  1. Symptomatic Adrenal Insufficiency due to Bilateral Adrenal Non-Hodgkin’s Lymphoma

    Directory of Open Access Journals (Sweden)

    Şafak Akın

    2016-09-01

    Full Text Available Secondary involvement of the adrenal gland with non-Hodgkin’s lymphoma has been reported to occur in up to 25% of patients during the course of the disease. A 45-year-old man presented with a several month history of nausea, fatigue and weight loss. His medical history was unremarkable. Abdominal computed tomography (CT was performed and showed bilateral adrenal massive masses measuring 10x7.5 cm on the left and 4.8x4 cm on the right. He developed adrenal insufficiency in the follow-up period. The patient was started on replacement dose of prednisolone. A positron emission tomography-CT scan was acquired for further staging of the disease and showed intense fluorodeoxyglucose accumulation in both adrenal glands, additionally a slight fluorodeoxyglucose accumulation was observed in the ileocecal site. He did not accept adrenal biopsy or surgery. Histopathological examination of the ileocecal site revealed diffuse large B-cell lymphoma. He was administered rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone chemotherapy. Bilateral adrenal lymphoma is a rare entity when compared with the incidence of adenoma and adrenal metastases of other cancers. Adrenal insufficiency may be the primary symptom of presentation, especially with bilateral involvement as in bilateral adrenal lymphoma.

  2. REGULATION OF MEMORY – FROM THE ADRENAL MEDULLA TO LIVER TO ASTROCYTES TO NEURONS1

    OpenAIRE

    Gold, Paul E.

    2014-01-01

    Epinephrine, released into blood from the adrenal medulla in response to arousing experiences, is a potent enhancer of learning and memory processing. This review examines mechanisms by which epinephrine exerts its effects on these cognitive functions. Because epinephrine is largely blocked from moving from blood to brain, it is likely that the hormone's effects on memory are mediated by peripheral actions. A classic effect of epinephrine is to act at the liver to break down glycogen stores, ...

  3. Immunologic, hemodynamic, and adrenal incompetence in cirrhosis

    DEFF Research Database (Denmark)

    Risør, Louise Madeleine; Bendtsen, Flemming; Møller, Søren

    2015-01-01

    dysfunction, but is not responsive to volume expansion. Recent research indicates that development of hepatic nephropathy represents a continuous spectrum of functional and structural dysfunction and may be precipitated by the inherent immunologic, adrenal, and hemodynamic incompetence in cirrhosis. New...... research explores several new markers of renal dysfunction that may replace serum creatinine in the future and give new insight on the hepatic nephropathy. Our understanding of the pathophysiological mechanisms causing the immunologic, adrenal, and hemodynamic incompetence, and the impact on renal...

  4. Chronic Heroin Dependence Leading to Adrenal Insufficiency

    Directory of Open Access Journals (Sweden)

    Gautam Das

    2014-01-01

    Full Text Available Opioids have been the mainstay for pain relief and palliation over a long period of time. They are commonly abused by drug addicts and such dependence usually imparts severe physiologic effects on multiple organ systems. The negative impact of opioids on the endocrine system is poorly understood and often underestimated. We describe a patient who developed severe suppression of the hypothalamic-pituitary adrenal (HPA axis leading to secondary adrenal insufficiency due to long standing abuse of opioids.

  5. Hormonal activity in clinically silent adrenal incidentalomas

    OpenAIRE

    Babińska, Anna; Siekierska-Hellmann, Małgorzata; Błaut, Krzysztof; Lewczuk, Anna; Wiśniewski, Piotr; Gnacińska, Maria; Obołończyk, Łukasz; Świątkowska-Stodulska, Renata; Sworczak, Krzysztof

    2012-01-01

    Introduction The rapid development of modern imaging techniques, has led to an increase in accidentally discovered adrenal masses without clinically apparent hormonal abnormalities. Such tumours have been termed “incidentalomas”. The diagnostic work-up in patients with adrenal incidentalomas is aimed at the determination of hormonal activity of the tumour and identification of patients with potentially malignant tumours. The aim of our study was a retrospective analysis of selected clinical c...

  6. Ultrasound diagnosis of adrenal hemorrhage in meningococcemia

    Energy Technology Data Exchange (ETDEWEB)

    Sarnaik, A.P.; Sanfilippo, D.J.K.; Slovis, T.L.

    1988-07-01

    Adrenal hemorrhage (AH) is a well-described complication of the neonatal period, anticoagulant therapy, and overwhelming bacterial infection especially with N. meningitis. Until recently the diagnosis of acute AH was based predominantly on autopsy findings. Ultrasound and computed tomography examinations have been successfully used for antemortem detection of AH in neonates and anticoagulated patients. We report two patients with fulminant meningococcal infection who demonstrated bilateral adrenal hemorrhages on ultrasonography.

  7. Giant Adrenal Myelolipoma Masquerading as Heart Failure

    Directory of Open Access Journals (Sweden)

    Parijat S. Joy

    2014-03-01

    Full Text Available Adrenal myelolipomas are rare benign tumors of the adrenal cortex composed of adipose and hematopoietic cells. They have been postulated to arise from repeated stimulation by stress, inflammation and ACTH oversecretion. Myelolipomas are usually detected incidentally on imaging and do not require any active intervention besides regular follow-up by imaging. However, myelolipomas may insidiously grow to large sizes and cause mass effects and hemorrhage. Timely diagnosis and surgical resection are curative and lifesaving.

  8. Idiopathic Adrenal Hematoma Masquerading as Neoplasm

    Directory of Open Access Journals (Sweden)

    Kazuki Sasaki

    2012-04-01

    Full Text Available We report herein a case of idiopathic adrenal hematoma. A 59-year-old Japanese man was referred to our hospital for evaluation of a 7.0 cm mass in the right upper abdominal cavity. The tumor was suspected to originate from either the posterior segment of the liver or the right adrenal gland. His chief complaint was weight loss of 8 kg over the previous 6 months. He had no past medical history and took no medications, including no anticoagulants. Laboratory data were almost normal except for a slight elevation of PIVKA-II. The origin of the tumor was found to be the adrenal gland, as angiography revealed the blood supply to the mass to derive from the right superior and inferior adrenal arteries. A fine needle biopsy of the lesion was unable to confirm the diagnosis. Open right adrenalectomy was performed. The histopathological findings of the surgical specimen revealed a hematoma with normal adrenal tissue. In the absence of any obvious etiology, the diagnosis was idiopathic adrenal hematoma.

  9. Dopamine receptor expression and function in human normal adrenal gland and adrenal tumors.

    Science.gov (United States)

    Pivonello, Rosario; Ferone, Diego; de Herder, Wouter W; de Krijger, Ronald R; Waaijers, Marlijn; Mooij, Diana M; van Koetsveld, Peter M; Barreca, Antonina; De Caro, Maria Laura del Basso; Lombardi, Gaetano; Colao, Annamaria; Lamberts, Steven W J; Hofland, Leo J

    2004-09-01

    Dopamine is known to play a role in the modulation of aldosterone and catecholamine secretion from the adrenal gland, where dopamine receptors (DR), in particular the DR type 2 (D(2)), have been found to be expressed. DR expression has also been demonstrated in some types of benign adrenal tumors. The aims of the current study were to evaluate DR expression and D(2) localization in the normal adrenal gland and in different types of benign and malignant adrenal tumors, as well as to evaluate the in vitro effects of the dopamine agonists bromocriptine and cabergoline on hormone secretion in nontumoral adrenal cells. Adrenal tissues from 25 patients, subjected to adrenal surgery for different diseases, were studied. These included three normal adrenals; five adrenal hyperplasias; four aldosterone-secreting, two cortisol-secreting, and two clinically nonfunctioning adrenal adenomas; two aldosterone-secreting, two cortisol-secreting, and two androgen-secreting adrenal carcinomas; and three pheochromocytomas. In all tissues, DR and D(2) isoform (D(2long) and D(2short)) expression was evaluated by RT-PCR. D(2) localization was also evaluated by immunohistochemistry using a specific polyclonal antibody, whereas D(2)-like receptor expression was evaluated by receptor-ligand binding study, using the radiolabeled D(2) analog (125)I-epidepride. The effects of bromocriptine and cabergoline on baseline and ACTH and/or angiotensin II-stimulated aldosterone, cortisol, and androstenedione secretion were evaluated in cell cultures derived from five different adrenal hyperplasia. At RT-PCR, both D(1)-like and D(2)-like receptors were expressed in all normal and hyperplastic adrenals. D(2) and D(4) were expressed in aldosterone- and cortisol-secreting adenomas, cortisol-secreting carcinomas, and clinically nonfunctioning adenomas, whereas no DR was expressed in aldosterone- and androgen-secreting carcinomas. D(2), D(4), and D(5) were expressed in pheochromocytomas. In all D(2

  10. [Adrenal insufficiency in cirrhotic patients].

    Science.gov (United States)

    Orozco, Federico; Anders, María; Mella, José; Antinucci, Florencia; Pagano, Patricia; Esteban, Paula; Cartier, Mariano; Romero, Gustavo; Francini, Bettina; Mastai, Ricardo

    2016-01-01

    Relative adrenal insufficiency (RAI) is a common finding in cirrhotic patients with severe sepsis, and increased mortality. Its significance is unknown in stable conditions. The aim of this study was to evaluate the prevalence of RAI in stable cirrhotic patients at different stages of the disease. Also, the impact of RAI on the survival was evaluated and basal cortisol levels between plasma and saliva was correlated in control subjects and cirrhotic patients. Forty seven ambulatory patients and 16 control subjects were studied. RAI was defined as a serum cortisol increase of less than 9 υg/dl from baseline after the stimulation with 250 mg of synthetic ACTH. Twenty two had Child-Pugh = 8 and 25 = 9. The prevalence of RAI in patients with stable cirrhosis was 22%. A higher incidence of RAI was observed in patients with a Child-Pugh = 9 (8/32) than in those with = 8 (3/13, p developed this complication (79% and 51%, p < 0.05, respectively). In summary, the prevalence of RAI is frequent in patients with stable cirrhosis and that it is related to the severity of liver diseaseand increased mortality. PMID:27576278

  11. Congenital Cataract Screening.

    Science.gov (United States)

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender. PMID:27621790

  12. Congenital tracheobronchial stenosis.

    Science.gov (United States)

    Hewitt, Richard J; Butler, Colin R; Maughan, Elizabeth F; Elliott, Martin J

    2016-06-01

    Congenital tracheobronchial stenosis is a rare disease characterized by complete tracheal rings that can affect variable lengths of the tracheobronchial tree. It causes high levels of morbidity and mortality both due to the stenosis itself and to the high incidence of other associated congenital malformations. Successful management of this complex condition requires a highly individualized approach delivered by an experienced multidisciplinary team, which is best delivered within centralized units with the necessary diverse expertise. In such settings, surgical correction by slide tracheoplasty has become increasingly successful over the past 2 decades such that long-term survival now exceeds 88%, with normalization of quality of life scores for patients with non-syndrome-associated congenital tracheal stenosis. Careful assessment and planning of treatment strategies is of paramount importance for both successful management and the provision of patients and carers with accurate and realistic treatment counseling. PMID:27301600

  13. Congenital cataract screening

    Directory of Open Access Journals (Sweden)

    Zhale Rajavi

    2016-01-01

    Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  14. Congenital Cataract Screening

    Science.gov (United States)

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender. PMID:27621790

  15. Benign adrenal hemangiomas may mimic metastases on PET.

    Science.gov (United States)

    Calata, Jed F; Sukerkar, Arun N; August, Carey Z; Maker, Ajay V

    2013-11-01

    CT or MRI are utilized in the initial evaluation of adrenal incidentalomas; however, overlap exists between benign and malignant lesions on these examinations. The American College of Radiology recommends PET scans to complement CT and MRI for patients with adrenal masses and a moderate-to-high likelihood of neoplastic disease. We present images of a PET-avid adrenal lesion in a patient with pulmonary and pancreatic neoplasms that mimicked metastasis, but was found to be a benign adrenal hemangioma on surgical resection. The use of PET for adrenal tumors, specifically adrenal hemangiomas, will be reviewed. PMID:24089061

  16. Diagnosis of adrenal tumors with radionuclide imaging

    Energy Technology Data Exchange (ETDEWEB)

    Beierwaltes, W.H.; Sisson, J.C.; Shapiro, B.

    1984-01-01

    The development of radiolabeled cholesterols in 1969 as precursors of adrenocortical steroid production allowed the first noninvasive imaging of the adrenal cortices. FDA-NDA approval in 1984 should allow routine use of these agents in most hospitals. NP-59 is most commonly used in the diagnosis and management of Cushing syndrome; the second most common use is in the diagnosis of primary aldosteronism. It is also helpful in the differential diagnosis of adrenal and ovarian hyperandrogenism and hirsutism, and is the only noninvasive method of detecting unilateral adrenocortical hypofunction. The newest and most popular use is in the differential diagnosis of asymptomatic masses in the region of the adrenal gland discovered incidentally with CT scan (incidentalomas). In this situation, the NP-59 scan can define whether the tumor is in the adrenal gland and if it is functional or nonfunctional. The authors believe that, in the future, radiolabeled enzyme inhibitors might offer better diagnostic imaging of the adrenal cortex, although these agents will probably not be available for routine use for some time. The development of a radioiodinated guanethidine analog, /sup 131/I-MIBG, has allowed differentiation of normal adrenal medullary function from bilateral adrenal medullary hyperplasia before the development of hypertension or tachycardia, diagnostic increases in plasma or urinary catecholamines, or abnormal CT scans. The search for a pheochromocytoma should begin with /sup 131/I-MIBG scintigraphy. While over 90% of primary pheochromocytomas occur in the abdomen, neither a survey of the abdomen nor the finding of a single tumor should conclude the search.

  17. Congenital laryngeal anomalies,

    Directory of Open Access Journals (Sweden)

    Michael J. Rutter

    2014-12-01

    Full Text Available Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the main aspects concerning airway management of infants will be analyzed. Conclusions: It is critical for clinicians to understand issues relevant to the airway management of infants.

  18. Congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    1995-01-01

    950283 Surgical treatment of congenital coronaryartery fistula.CAO Qingheng(曹庆亨),et al.DeptCardiovasc Surg,Shanghai Chest Hosp,Shanghai,200030.Shanghai Med J 1995;18(1):10-12.From October 1957 through December 1990,twenty-five patients with congenital coronary artery fistula(CCAF),including 3 cases complicated with giantcoronary artery aneurysms,underwent surgical repair.The ages ranged from 4 to 47 years (mean 19.8years).CCAF originated from the right coronaryartery in 17 cases (68.0%) and terminated into RA,RV,pulmonary artery (PA) or LV,in 8 cases (32.

  19. Congenital spinal malformations

    International Nuclear Information System (INIS)

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.)

  20. Congenital preduodenal portal vein

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Jin; Hwang, Mi Soo; Huh, Young Soo; Park, Bok Hwan [College of Medicine, Youngnam University, Gyeongsan (Korea, Republic of)

    1991-03-15

    Congenital preduodenal portal vein, first reported by Knight in 1921, is an extremely rare congenital anomaly in which the portal vein passes anteriorly to the duodenum rather than posteriorly in its normal location. It is of surgical significance because it may cause difficulties in operations involving the gall bladder, biliary duct, or duodenum. Recently, we experienced 2 cases of preduodenal portal vein. One was found during surgical exploration for the diagnosis and correction of malrotation of the bowels and the other in a 3 day-old male newborn associated with dextrocardia, situs inversus, and duodenal obstruction by diaphragm. We report these 2 cases with a review of the literature.

  1. Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Goknur Haliloglu

    2011-09-01

    Full Text Available ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenitalmuscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in theWestern world mostly seen with de novo dominant mutations in the collagenVI genes. Milder form of the condition is the Bethlem myopathy. There may beoverlap forms in the clinic resembling the Ehler-Danlos syndrome. There hasbeen some radical efforts for cure especially through the apoptosis cascades.Key words: Ullrich congenital muscular dystrophy, collgen VI genes, Bethlemmyopathy, autophagy.

  2. Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Goknur Haliloglu

    2011-06-01

    Full Text Available ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in the Western world mostly seen with de novo dominant mutations in the collagen VI genes. Milder form of the condition is the Bethlem myopathy. There may be overlap forms in the clinic resembling the Ehler-Danlos syndrome. There has been some radical efforts for cure especially through the apoptosis cascades.

  3. Congenital Pulmonary Alveolar Proteinosis

    Directory of Open Access Journals (Sweden)

    Saber Hammami

    2013-01-01

    Full Text Available Pulmonary alveolar proteinosis (PAP is a rare syndrome characterized by pulmonary surfactant accumulation within the alveolar spaces. It occurs with a reported prevalence of 0.1 per 100,000 individuals. Two clinically different pediatric types have been defined as congenital PAP which is fatal and a late-onset PAP which is similar to the adult form and less severe. The clinical course of PAP is variable, ranging from spontaneous remission to respiratory failure. Whole-lung lavage is the current standard treatment for PAP patients. We report a new congenital case of PAP.

  4. Congenital syphilis in the newborn.

    OpenAIRE

    Chawla, V.; Pandit, P B; Nkrumah, F K

    1988-01-01

    We studied 53 newborn babies with congenital syphilis. The common clinical features seen were low birth weight, hepatosplenomegaly, anaemia, jaundice, and symmetrical superficial desquamation of the skin affecting palms and soles. The presence of these clinical signs is highly suggestive of early congenital syphilis. Hydrops fetalis without rhesus or ABO isoimmunisation should always arouse the suspicion of congenital syphilis.

  5. Diabetic fetopathy associated with bilateral adrenal hyperplasia and ambiguous genitalia: a case report

    Directory of Open Access Journals (Sweden)

    Tantbirojn Patou

    2008-07-01

    Full Text Available Abstract Introduction Many fetal malformations can occur because of maternal diabetes. However, ambiguous genital organs have never been reported as an associated finding in the literature. This is the first report of associated ambiguous genital organ and bilateral adrenal hyperplasia in a case of diabetic fetopathy. Case presentation A 19-year-old Thai primigravida with familial history of diabetes mellitus (DM was diagnosed as having gestational DM type 2, based on 100 g oral glucose tolerance test, and was poorly controlled with insulin injections. Delayed targeted ultrasonography at 28 weeks gestation revealed multiple fetal anomalies. The woman underwent low transverse cesarean section at 30 weeks gestation due to preterm labor and transverse lie. The newborn with ambiguous genitalia was delivered but expired after birth. Autopsy findings revealed alobar holoprosencephaly, a prominent forehead, hypotelorism, an absent nose, absent bilateral ears, median cleft lip and palate, preaxial polydactyly of the right hand, accessory spleens, single umbilical artery, markedly enlarged adrenal glands and ambiguous external genitalia The subsequent fetal chromosomal study revealed 46,XX. Conclusion We describe a case of diabetic fetopathy with classic facial malformation and preaxial hallucal polydactyly which has been proposed as a marker of diabetic embryopathy. Bilateral adrenal hyperplasia with ambiguous genitalia, an uncommon associated anomaly, was also identified. It is controversial whether adrenal hyperplasia can be a novel feature of diabetic fetopathy or just a coincidental finding. Further observation and adequate investigation are needed in such cases.

  6. Tumor disease and associated congenital abnormalities on prenatal MRI

    International Nuclear Information System (INIS)

    Objective: Fetal tumors can have a devastating effect on the fetus, and may occur in association with congenital malformations. In view of the increasing role of fetal magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), we sought to demonstrate the visualization of fetal tumors, with regard to congenital abnormalities, on MRI. Materials and methods: This retrospective study included 18 fetuses with tumors depicted on fetal MRI after suspicious US findings. An MRI standard protocol was used to diagnose tumors judged as benign or malignant. All organ systems were assessed for tumor-related complications and other congenital malformations. Available US results and histopathology were compared with MRI. Results: There were 13/18 (72.2%) benign and 5/18 (27.8%) malignant tumors diagnosed: a cerebral primitive neuroectodermal tumor in 1/18, head–neck teratomas in 4/18; ventricular rhabdomyomas in 4/18; a cardiac teratoma in 1/18; a hepatoblastoma in 1/18; neuroblastomas in 2/18; a cystic hemorrhagic adrenal hyperplasia in 1/18; a pelvic leiomyoma in 1/18; sacrococcygeal teratomas in 3/18. Tumor-related complications were present in 13/18 (72.2%) cases; other congenital abnormalities in 3/18 (16.7%). MRI diagnosis and histology were concordant in 8/11 (72.7%) cases. In 6/12 (50%) cases, US and MRI diagnoses were concordant, and, in 6/12 (50%) cases, additional MRI findings changed the US diagnosis. Conclusion: Our MRI results demonstrate the visualization of fetal tumors, with frequently encountered tumor-related complications, and other exceptional congenital abnormalities, which may provide important information for perinatal management. Compared to prenatal US, MRI may add important findings in certain cases.

  7. Congenital temporal triangular alopecia.

    OpenAIRE

    Bargman, H

    1984-01-01

    Congenital temporal triangular alopecia is a form of nonscarring alopecia that, as its name suggests, is present at birth. Four cases are reported. One patient underwent hair transplantation, which was successful and might be useful in other patients. Cases occurring in a father and his son suggest for the first time a genetic link.

  8. Congenital CMV Infection

    Science.gov (United States)

    ... infect the baby. This can happen when a pregnant woman experiences a first-time infection, a reinfection with a different CMV strain (variety), ... passed their newborn hearing test. Diagnosis Congenital CMV ... newborn baby’s saliva, urine, or blood. Such specimens must be collected for ...

  9. CONGENITAL PATELLA LUXATION

    OpenAIRE

    Cakmak, Mehmet; Taser, Omer; Domanic, Unsal; Temelli, Yener; Karamehmetoglu, Mahmut

    2004-01-01

    Five cases of congenital patella luxation which is rarely seen, have been presented. The diagnosis and treatment problems of this disease have been discussed in our cases with literature on the subject. It was concluded the method of the plastic of Williams-Picat quadriceps performed in the unification with the method of Krogius is the most appropriate form of treatment.

  10. Severe congenital neutropenia

    DEFF Research Database (Denmark)

    Borregaard, Niels

    2014-01-01

    In this issue of Blood, Tidwell et al1 demonstrate that mutations in the start codon (protein synthesis is initiated at the codon ATG) of neutrophil elastase (ELANE) result in the production of N-terminally truncated elastase, which mislocates to the nucleus and results in severe congenital neutr...... neutropenia (SCN)....

  11. Congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    1997-01-01

    970296 Evaluating the degree of pulmonary vascularlesions in congenital heart disease with selective pul-monary angiography. PAN Shiwei(潘世伟), et al.Fuwai Hosp, CAMS & PUMC, Beijing, 100037. Chin JCardiol 1997; 25(1): 39-41. Objective: To evaluate the degree of pulmonary vas-

  12. Congenital Heart Information Network

    Science.gov (United States)

    ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright ©1996 - 2016 C.H.I.N. All rights reserved TX4-390-685 Original site design and HTML by Panoptic Communications

  13. Congenital Lumbar Hernia

    Directory of Open Access Journals (Sweden)

    Sanjay Sharma

    2008-01-01

    Full Text Available Lumbar hernia is a rare hernia. It constitutes less than one percent of all abdominal hernias. It can becongenital or acquired. Acquired can occur either spontaneously or after surgery or trauma. Only 300cases of lumbar hernia are reported till date. We report a case of congenital lumbar hernia in one month oldmale baby

  14. Congenital Absence of Tibia

    Directory of Open Access Journals (Sweden)

    Sudesh Sharma, Saleem Mir, Vikrant Sharma, Irshad Dar, Rafee

    2002-10-01

    Full Text Available Congenital absence of tibia is a rare anomaly. We repol1 a case who presented at the age of 3 years withabsence of tibia right side with associated anomolies and was managed by reconstruction of the kneeand ankle joints b transfer of fibula

  15. Unusual presentation of oesophageal carcinoma with adrenal metastasis

    International Nuclear Information System (INIS)

    Adrenal gland is a common site of metastasis in many cancers but it is very rare in oesophageal carcinoma. We report one such case found to have adrenal metastasis on follow-up PET/computed tomography scan

  16. Adrenal hypoplasia congenita: a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism

    Directory of Open Access Journals (Sweden)

    Marta Loureiro

    2015-09-01

    Full Text Available Primary adrenal insufficiency is defined by the impaired synthesis of adrenocortical hormones due to an intrinsic disease of the adrenal cortex. Determining its etiology is crucial to allow adequate long-term management and genetic counseling. We report the case of a male adolescent that presented in the neonatal period with adrenal crisis and received replacement therapy for primary adrenal insufficiency. During follow-up, adrenal hypoplasia congenita (AHC was suspected given his persistently raised adrenocorticotropic hormone levels, with markedly low 17-OH progesterone and androstenedione levels. DNA sequence analysis revealed a mutation in NR0B1 gene (c.1292delG, confirming the diagnosis. Delayed puberty and persistent low levels of gonadotropins led to testosterone replacement therapy. X-linked AHC is a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism, related to mutations in NR0B1 gene. Despite its rarity, AHC should be considered in patients who present with primary adrenal failure, low levels of 17-OH progesterone and hypogonadotropic hypogonadism.

  17. Bilateral adrenal hemorrhage in polycythemia vera.

    Science.gov (United States)

    Bhandari, Shruti; Agito, Katrina; Krug, Esther I

    2016-01-01

    Bilateral adrenal hemorrhage (BAH) is a rare complication typically seen in critically ill patients, which can lead to acute adrenal insufficiency and death unless it is recognized promptly and treated appropriately. We describe the case of a 64-year-old man with polycythemia vera found to be unresponsive with fever, hypotension, tachycardia, and hypoglycemia. Electrocardiogram showed ST-elevation with elevated troponin, hemoglobin, prothrombin time, and partial thromboplastin time. He required aggressive ventilator and vasopressor support. Despite primary coronary intervention, he remained hypotensive. Random cortisol level was low. He received stress dose hydrocortisone with immediate hemodynamic stability. BAH was highly suspected and was confirmed by non-contrast abdominal computed tomography. Prompt recognition and timely initiated treatment remain crucial to impact the mortality associated with acute adrenal insufficiency. PMID:27609733

  18. Imaging of the adrenal gland lesions

    Directory of Open Access Journals (Sweden)

    Keith Herr

    2014-08-01

    Full Text Available With the steep increase in the use of cross-sectional imaging in recent years, the incidentally detected adrenal lesion, or "incidentaloma", has become an increasingly common diagnostic problem for the radiologist, and a need for an approach to classifying these lesions as benign, malignant or indeterminate with imaging has spurred an explosion of research. While most incidentalomas represent benign disease, typically an adenoma, the possibility of malignant involvement of the adrenal gland necessitates a reliance on imaging to inform management decisions. In this article, we review the literature on adrenal gland imaging, with particular emphasis on computed tomography, magnetic resonance imaging, and photon-emission tomography, and discuss how these findings relate to clinical practice. Emerging technologies, such as contrast-enhanced ultrasonography, dual-energy computed tomography, and magnetic resonance spectroscopic imaging will also be briefly addressed.

  19. Bilateral adrenal hemorrhage in polycythemia vera

    Directory of Open Access Journals (Sweden)

    Shruti Bhandari

    2016-09-01

    Full Text Available Bilateral adrenal hemorrhage (BAH is a rare complication typically seen in critically ill patients, which can lead to acute adrenal insufficiency and death unless it is recognized promptly and treated appropriately. We describe the case of a 64-year-old man with polycythemia vera found to be unresponsive with fever, hypotension, tachycardia, and hypoglycemia. Electrocardiogram showed ST-elevation with elevated troponin, hemoglobin, prothrombin time, and partial thromboplastin time. He required aggressive ventilator and vasopressor support. Despite primary coronary intervention, he remained hypotensive. Random cortisol level was low. He received stress dose hydrocortisone with immediate hemodynamic stability. BAH was highly suspected and was confirmed by non-contrast abdominal computed tomography. Prompt recognition and timely initiated treatment remain crucial to impact the mortality associated with acute adrenal insufficiency.

  20. Imaging of the adrenal gland lesions

    Energy Technology Data Exchange (ETDEWEB)

    Herr, Keith [Department of Radiology, Keck School of Medicine, University of Southern California, Los Angeles, CA (United States); Muglia, Valdair F. [Universidade de Sao Paulo (FMRP/USP), Ribeirao Preto, SP (Brazil). Faculdade de Medicina; Koff, Walter Jose [Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS (Brazil). Faculdade de Medicina. Dept. de Cirurgia; Westphalen, Antonio Carlos, E-mail: antonio.westphalen@ucsf.edu [Departments of Radiology and Biomedical Imaging and Urology, School of Medicine, University of California, San Francisco, CA (United States)

    2014-07-15

    With the steep increase in the use of cross-sectional imaging in recent years, the incidentally detected adrenal lesion, or 'incidentaloma', has become an increasingly common diagnostic problem for the radiologist, and a need for an approach to classifying these lesions as benign, malignant or indeterminate with imaging has spurred an explosion of research. While most incidentalomas represent benign disease, typically an adenoma, the possibility of m alignant involvement of the adrenal gland necessitates a reliance on imaging to inform management decisions. In this article, we review the literature on adrenal gland imaging, with particular emphasis on computed tomography, magnetic resonance imaging, and photon-emission tomography, and discuss how these findings relate to clinical practice. Emerging technologies, such as contrast-enhanced ultrasonography, dual-energy computed tomography, and magnetic resonance spectroscopic imaging will also be briefly addressed. (author)

  1. Spontaneous Idiopathic Unilateral Adrenal Haemorrhage (SIAH).

    Science.gov (United States)

    Naqvi, Syed Ali; Zaman, Shamas; Ahmed, Irfan

    2015-04-01

    Spontaneous Idiopathic Adrenal Haemorrhage (SIAH) is an unusual surgical emergency which can present with life threatening massive retroperitoneal bleeding. Most of the cases reported in the literature are associated with use of anticoagulation or underlying adrenal pathology such as tumors or cysts. Since this clinical entity is uncommon and clinical presentation is very indistinct, the diagnosis can be easily missed and can be challenging for the treating physicians. Nevertheless a raised clinical suspicion coupled with advances in radiological imaging have considerably improved the detection of SIAH in recent times. We report an unusual case of a 20 years old healthy female student who presented to our hospital with sudden onset of abdominal pain and shock. She was diagnosed as a case of massive spontaneous idiopathic unilateral adrenal haemorrhage, unaccompanied by any hematologic disorder, trauma or underlying pathology. Although patient was hemodynamically unstable at presentation, she was resuscitated promptly, investigated appropriately, hence recovered uneventfully with conservative management alone.

  2. CLASSIC DANDY WALKER MALFORMATION: ANTENATAL SONOGRAPHIC FINDINGS AND POSTNATAL STATUS

    Directory of Open Access Journals (Sweden)

    Arvinder

    2014-06-01

    Full Text Available Dandy Walker malformation is a rare congenital abnormality that affects the cerebellum and some of its components; particularly hypoplasia of cerebellar vermis, a cystic dilatation of fourth ventricle and is characterized by an enlarged posterior fossa. Here we present a case of classical DWM with antenatal and postnatal imaging

  3. Brain serotonin and pituitary-adrenal functions

    Science.gov (United States)

    Vernikos-Danellis, J.; Berger, P.; Barchas, J. D.

    1973-01-01

    It had been concluded by Scapagnini et al. (1971) that brain serotonin (5-HT) was involved in the regulation of the diurnal rhythm of the pituitary-adrenal system but not in the stress response. A study was conducted to investigate these findings further by evaluating the effects of altering brain 5-HT levels on the daily fluctuation of plasma corticosterone and on the response of the pituitary-adrenal system to a stressful or noxious stimulus in the rat. In a number of experiments brain 5-HT synthesis was inhibited with parachlorophenylalanine. In other tests it was tried to raise the level of brain 5-HT with precursors.

  4. A case of non-Hodgkin's lymphoma primary arising in both adrenal glands associated with adrenal failure.

    Science.gov (United States)

    Nishiuchi, Takamasa; Imachi, Hitomi; Fujiwara, Mako; Murao, Koji; Onishi, Hiroaki; Kiguchi, Tohru; Takimoto, Hidetaka; Kushida, Yoshio; Haba, Reiji; Ishida, Toshihiko

    2009-02-01

    It is known that adrenal insufficiency is one of the complications in primary adrenal lymphoma, especially those with bilateral adrenal involvement. A 73-year-old man was referred for general fatigue and high fever to the nearest hospital. The patient was transferred to our hospital for evaluation of bilateral adrenal tumors and hyponatremia. He was diagnosed as having non-Hodgkin's lymphoma (NHL) with primaries arising in both adrenal glands. Primary adrenal lymphoma (PAL) is a rare extra-nodal NHL. Although an appropriate treatment of this disease has not been established, our case has demonstrated that the combination of rituximab and THP-COP chemotherapy could be administered, and that it improved clinical manifestations. This case raises the suggestion that malignant lymphoma should be suspected in patients with bilateral adrenal tumors that present with progressive adrenal insufficiency.

  5. Congenital lipodystrophies and dyslipidemias.

    Science.gov (United States)

    Prieur, Xavier; Le May, Cedric; Magré, Jocelyne; Cariou, Bertrand

    2014-09-01

    Lipodystrophies are rare acquired and genetic disorders characterized by the selective loss of adipose tissue. One key metabolic feature of patients with congenital inherited lipodystrophy is hypertriglyceridemia. The precise mechanisms by which the lack of adipose tissue causes dyslipidemia remain largely unknown. In recent years, new insights have arisen from data obtained in vitro in adipocytes, yeast, drosophila, and very recently in several genetically modified mouse models of generalized lipodystrophy. A common metabolic pathway involving accelerated lipolysis and defective energy storage seems to contribute to the dyslipidemia associated with congenital generalized lipodystrophy syndromes, although the pathophysiological changes may vary with the nature of the mutation involved. Therapeutic management of dyslipidemia in patients with lipodystrophy is primarily based on specific approaches using recombinant leptin therapy. Preclinical studies suggest a potential efficacy of thiazolidinediones that remains to be assessed in dedicated clinical trials.

  6. Congenital diaphramatic hernia

    Energy Technology Data Exchange (ETDEWEB)

    Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States)

    2012-01-15

    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

  7. Congenital imprinting disorders

    DEFF Research Database (Denmark)

    Eggermann, Thomas; Netchine, Irène; Temple, I Karen;

    2015-01-01

    Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... their common underlying (epi)genetic aetiologies, and their basic pathogenesis and long-term clinical consequences remain largely unknown. Efforts to elucidate the aetiology of IDs are currently fragmented across Europe, and standardisation of diagnostic and clinical management is lacking. The new consortium...... EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing...

  8. Congenital intestinal lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Popović Dušan Đ.

    2011-01-01

    Full Text Available Background. Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. Case report. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and suportive therapy. Conclusion. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

  9. CT manifestations of adrenal trauma: experience with 73 cases.

    Science.gov (United States)

    Sinelnikov, Alex O; Abujudeh, Hani H; Chan, David; Novelline, Robert A

    2007-03-01

    Adrenal injuries, although an uncommon consequence of abdominal trauma, are important to recognize. If bilateral, adrenal trauma could result in life-threatening adrenal insufficiency. Furthermore, in the setting of trauma, adrenal injury can point to other concomitant injuries and has been associated with overall increased morbidity and mortality. In the past, before the advent of computed tomography (CT), detection was difficult, and the diagnosis was often made only at surgery or postmortem. Today, the diagnosis of adrenal injuries can be quickly and accurately made with CT. This retrospective review was carried out to identify, describe, and analyze different CT appearances of adrenal injuries and correlated with associated injuries and observed clinical context and outcomes. A patient cohort of CT-detected adrenal injuries was identified through a radiology software research tool by searching for keywords in radiology reports. The identified CT scans were reviewed and correlated with the patients' available clinical chart data and follow-up. Between April 1995 and October 2004, 73 cases of CT-detected adrenal injuries were identified, including 48 men and 25 women, with an age range 6 to 90 years and a mean age of 42.7 years. Of the cases, 77% were right-sided, 15% were left-sided, and 8% were bilateral. The causes of injuries were motor vehicle collisions (75%), falls (14%), sports related (4%), and miscellaneous causes (7%). Associated trauma included injuries of the liver (43%), spleen (23%), lung (19%), and kidney (18%), as well as pneumothoraces/hemothoraces (22%). Skeletal injuries included fractures of the ribs, clavicles, and/or scapulae (39%), pelvis and hips (30%), and the spine (23%). Isolated adrenal trauma was seen in only 4% of the cases. The CT findings of adrenal trauma were focal hematoma (30%), indistinct (27%) or enlarged (18%) adrenal gland, gross (15%) or focal (7%) adrenal hemorrhage, and adrenal mass (11%). Associated CT findings

  10. Bilateral adrenal [corrected] nodules due to histoplasmosis in an elderly.

    Science.gov (United States)

    Carvalho, Flávio Pedreira de Freitas de; Curiati, José Antônio Esper; Mauad, Thaís; Incerti, Milena Mendes; Jacob Filho, Wilson

    2007-02-01

    We report a case history of an 84-year-old elderly male patient that presented with a clinical picture suggestive of adrenal failure and bilateral adrenal nodules detected by abdominal computed tomography. A fine needle-guided biopsy was inconclusive for achieving a final diagnosis. The patient died due to septic shock and the autopsy disclosed histoplasmosis with extensive bilateral necrosis of the adrenal glands. Although the adrenal involvement in chronic disseminated histoplasmosis has been described, there have been few reports of the infection being associated with adrenal insufficiency.

  11. Congenital nasal lipoma

    International Nuclear Information System (INIS)

    The authors describe a rare case of congenital lipoma of a nose and nasopharynx in a 7 months old girl. The tumor, about 7 x 2 cm was situated in the right nasal cavity and the nasopharynx. The tumor caused complete obstruction of the right side of the nose. After CT diagnosis the tumor was excised from intranasal approach. Histological examination disclosed lipoma. The duration of follow up was 10 months without any sight of recurrence. (author)

  12. CONGENITAL ANTERIOR TIBIOFEMURAL SUBLUXATION

    Directory of Open Access Journals (Sweden)

    A. Shahla

    2008-06-01

    Full Text Available Congenital anterior tibiofemoral subluxation is an extremely rare disorder. All reported cases accompanied by other abnormalities and syndromes. A 16-year-old high school girl referred to us with bilateral anterior tibiofemoral subluxation as the knees were extended and reduced at more than 30 degrees flexion. Deformities were due to tightness of the iliotibial band and biceps femuris muscles and corrected by surgical release. Associated disorders included bilateral anterior shoulders dislocation, short metacarpals and metatarsals, and right calcaneuvalgus deformity.

  13. Congenital Triangular Alopecia

    OpenAIRE

    Yin Li, Vincent Chum; Yesudian, Paul Devakar

    2015-01-01

    Congenital triangular alopecia (CTA) also known as temporal triangular alopecia is a benign noncicatricial pattern of hair loss. It typically affects the frontotemporal region and rarely involves the temporoparietal or occipital scalp. It is a nonprogressive disorder that presents as a triangular, oval or lancet-shaped patch of alopecia. CTA can manifest at birth or develop later in life. The exact etiology of this condition remains unknown. Rarely, it may be associated with other disorders s...

  14. Congenital Pulmonary Alveolar Proteinosis

    OpenAIRE

    Saber Hammami; Khaled Harrathi; Khaled Lajmi; Samir Hadded; Chebil Ben Meriem; Mohamed Néji Guédiche

    2013-01-01

    Pulmonary alveolar proteinosis (PAP) is a rare syndrome characterized by pulmonary surfactant accumulation within the alveolar spaces. It occurs with a reported prevalence of 0.1 per 100,000 individuals. Two clinically different pediatric types have been defined as congenital PAP which is fatal and a late-onset PAP which is similar to the adult form and less severe. The clinical course of PAP is variable, ranging from spontaneous remission to respiratory failure. Whole-lung lavage is the curr...

  15. Congenital ocular motor apraxia

    OpenAIRE

    Carrasquinho, S; Teixeira, S.; Cadete, A; Bernardo, M.; Pêgo, P; Prieto, I.

    2008-01-01

    PURPOSE: Congenital ocular motor apraxia is a rare disease characterized by defective or absent voluntary and optically induced horizontal saccadic movements. Jerky head movements or thrusts on attempted lateral gaze are a compensatory sign. Most affected children have delayed motor and speech development. Cases associated with systemic diseases, neurologic maldevelopment, metabolic deficits, and chromosomal abnormalities have been described. METHODS: Case report and review of the scienti...

  16. Congenital Cleft Hand

    OpenAIRE

    Aritamur, Ayhan; Cakmak, Mehmet; Taser, Omer; Berk, Hasan

    2004-01-01

    Congenital cleft hand deformity, which is also known with such names as cleft hand, lobster claw hand and Ectrodactyiy, is characterized by the absence of one or two fingers in the mid portion of the hand. A case of bilateral cleft hand deformity four years old, which is considerabiy rare, was reconstructed surgically. The result obtained has been presented. Because no sufficient experience has accumulated due to the fact that it is observed considerably rare, the therapeutical principales re...

  17. Congenital syphilis surveillance

    OpenAIRE

    Antonella Marangoni; Alessandra Moroni; Elisabetta Tridapalli; Maria Grazia Capretti; Antonietta D’Antuono; Marina Biagi; Sanzio Ruscello; Franca Savioli; Roberto Cevenini

    2011-01-01

    Congenital syphilis (CS) is mainly a consequence of the lack of antenatal care and control of sexually transmitted infections.The bedrock of the prevention of CS is syphilis diagnosis by serological screening during pregnancy.Current Italian guidelines suggest that all the pregnant women should be tested in the first trimester. Due to the frequently absence of specific signs of infection at birth, laboratory tests are often the only method for a correct CS diagnosis. The aim of this study was...

  18. Adrenal incidentaloma in neurofibromatosis type 1

    Directory of Open Access Journals (Sweden)

    Tančić-Gajić Milina

    2008-01-01

    Full Text Available INTRODUCTION Neurofibromatosis type 1 is one of the most common genetically transmitted diseases with a high index of spontaneous mutations and extremely varied and unpredictable clinical manifestations. It is diagnosed by the existence of certain clinical criteria. The presence of numerous localised cutaneous neurofibromas or a plexiform neurofibroma is virtually pathognomonic of neurofibromatosis type 1. The incidence of pheochromocytoma in neurofibromatosis type 1 is 0.1-5.7%. CASE OUTLINE A 56-year old female patient was admitted for further evaluation of incidental adrenal tumour previously diagnosed on computerized tomography (CT. She had previously unrecognized neurofibromatosis type 1 and a clinical picture which could remind of pheochromocytoma. None of the catecholamine samples in 24 hr urine indicated functionally active pheochromocytoma. Chromogranin A was moderately increased. Decision for operation was made after performing the image techniques. Adrenal incidentaloma had features of pheochromocytoma on abdominal magnetic resonance imaging (MRI, with positive 131I-MIBG (iodine 131-labelled metaiodobenzylguanidine scintigraphy. After being treated with phenoxybenzamine and propranolol, she was operated on. The pathohistological finding showed the case of left adrenal pheochromocytoma. CONCLUSION Detailed diagnostic procedure for pheochromocytoma should be performed with patients having neurofibromatosis type 1 and adrenal incidentaloma. Pheochromocytomas are rare tumours with fatal outcome if not duly recognized and cured.

  19. Adrenal Cushing's syndrome may resemble eating disorders.

    Science.gov (United States)

    Hatakeyama, Makiko; Nakagami, Taku; Yasui-Furukori, Norio

    2014-01-01

    We encountered a patient who presented extreme weight loss and received an eating disorder diagnosis that was later identified as adrenal Cushing's syndrome. A 32-year-old woman with a 2-year history of an eating disorder was admitted to our psychiatric ward due to dehydration, malnutrition and low weight. Her height and body weight were 152.1 cm and 29.8 kg, respectively (body mass index: 12.8). Her other symptoms included a depressed mood, decreased interest, retardation and suicidal ideation. Standard medical cares were prescribed to treat the depressive symptoms and eating disorder, but the depressive episode and low body weight of the patient persisted. Computed tomography of the abdomen revealed an unexpected left adrenal gland tumor. Cushing's syndrome was diagnosed based on several endocrinological examinations. After an enucleation of the left adrenal gland tumor, the patient began eating, and her body weight increased gradually. Her body weight increased to 42.0-47.0 kg (body mass index: 18.2-20.3). Her mental and physical conditions had stabilized. This case suggests that adrenal Cushing's syndrome may resemble eating disorders.

  20. Adrenal insufficiency in patients with decompensatedcirrhosis

    Institute of Scientific and Technical Information of China (English)

    2015-01-01

    Adrenal reserve depletion and overstimulation of thehypothalamus-pituitary-adrenal (HPA) axis are causesfor adrenal insufficiency (AI) in critically ill individuals.Cirrhosis is a predisposing condition for AI in cirrhotics aswell. Both stable cirrhotics and liver transplant patients(early and later after transplantation) have been reportedto present AI. The mechanisms leading to reducedcortisol production in cirrhotics are the combination oflow cholesterol levels (the primary source of cortisol), theincreased cytokines production that overstimulate andexhaust HPA axis and the destruction of adrenal glandsdue to coagulopathy. AI has been recorded in 10%-82%cirrhotics depending on the test used to evaluate adrenalfunction and in 9%-83% stable cirrhotics. The similarityof those proportions support the assumption that AI isan endogenous characteristic of liver disease. However,the lack of a gold standard method for AI assessmentand the limitation of precise thresholds in cirrhoticsmake difficult the recording of the real prevalence of AI.This review aims to summarize the present data overAI in stable, critically ill cirrhotics and liver transplantrecipients. Moreover, it provides information about thecurrent knowledge in the used diagnostic tools and thepossible effectiveness of corticosteroids administration incritically ill cirrhotics with AI.

  1. Adrenal Insufficiency - Aetiology, Diagnosis and Treatment

    Directory of Open Access Journals (Sweden)

    Nazma Akter

    2015-03-01

    Full Text Available Adrenal insufficiency is caused by either primary adrenal failure or by hypothalamic-pituitary impairment of the corticotropic axis. Adrenal insufficiency, first codified in 1855 by Thomas Addison, remains relevant in 2014 because of its lethal nature. Though, it is a rare disease but is life threatening when overlooked. Main presenting symptoms such as fatigue, anorexia and weight loss are nonspecific, thus diagnosis is often delayed. The diagnostic work-up is well established but some pitfalls remain. The diagnosis is adequately established by the 250 μg ACTH (adrenocorticotropic hormone stimulation test in most cases. Glucocorticoids provide life saving treatment but long-term quality of life is impaired, perhaps because therapy is not given in a physiologic way. Dehydroepiandrosterone-replacement therapy has been introduced that could help to restore quality of life. It may be useful in pubertal girls, but not in adults. Monitoring of glucocorticoid-replacement is difficult due to lack of objective methods of assessment and is therefore largely based on clinical grounds. Thus, long-term management of patients with adrenal insufficiency remains a challenge, requiring an experienced specialist.

  2. Ectopic Thyroid Tissue in the Adrenal Gland: A Report of Two Cases with Pathogenetic Implications

    Science.gov (United States)

    Romero-Rojas, Alfredo; Bella-Cueto, María Rosa; Meza-Cabrera, Ivonne A.; Cabezuelo-Hernández, Angeles; García-Rojo, Darío; Vargas-Uricoechea, Hernando

    2013-01-01

    Background: Ectopic thyroid tissue is usually found anywhere along the embryonic descent pathway of the medial thyroid anlage from the tongue to the trachea (Wölfler area). However, ectopic thyroid tissue in the adrenal gland (ETTAG) is not easy to understand on the basis of thyroid embryology; because it is so rare, the possibility of metastasis should first be considered. Here, we describe two cases of ETTAG with pathogenetic implications and review the associated literature. Patient findings: Two cases of ETTAG presented as incidental cystic adrenal masses in adult females, one having a congenital hernia of Morgagni. The ETTAG was histologically indistinguishable from normal orthotopic thyroid tissue, and its follicular nature was confirmed by immunohistochemical positivity for thyroglobulin, thyroperoxidase, thyroid transcription factor-1 (TTF-1/Titf-1/Nkx2.1), cytokeratin AE1/AE3, cytokeratin 7, pendrin, human sodium iodide symporter, paired box gene 8, and forkhead box E1 (TTF-2), as well as positivity for the messenger RNA of the thyroglobulin gene by in situ hybridization analysis. No C cells (negativity for calcitonin, chromogranin, and synaptophysin) were present. Neither BRAF nor KRAS mutations were detected with real-time polymerase chain reaction analysis. Further work-up did not show evidence of thyroid malignancy. Summary: ETTAG is a rare finding, with only seven cases reported; women are much more frequently affected than men (8:1), and it usually presents in the fifth decade (mean age 54, range 38–67) as a cystic adrenal mass incidentally discovered on abdominal ultrasonography and/or in computed tomography images. ETTAG is composed of normal follicular cells without C cells. The expression of some transcription factors (TTF-1, paired box gene 8, and FOXE1) involved in development and/or migration of the medial thyroid anlage is preserved. Coexistence of a congenital hernia of Morgagni in one patient suggests an overdescent of medial thyroid

  3. CONGENITAL DUODENAL OBSTRUCTIONS

    Directory of Open Access Journals (Sweden)

    S.G. Aprodu

    2005-07-01

    Full Text Available The purpose of this study is to analyze a cohort of 46 cases of congenital duodenal obstruction, operated on between 1996 and 2002, 23 of them being diagnosed in neonatal period. In one case, the diagnosis was made antenatally, by ultrasonography. There were 15 males and 8 females, 17 with duodenal atresia and 6 with duodenal diaphragmatic stenosis. Surgery was performed in all cases, consisting in lateral duodeno-duodenal anastomosis in 5 cases and "diamond-shape" duodeno-duodenal anastomosis in 18 cases. The survival rate in this study was 69.5%. 12 cases (52,1% had other congenital pathologies: trisomy 21 (6 cases, multiple ileal atresia (2 cases, dextrocardy (2 cases, omphalocel (1 case, situs inversus (1 case. The complications of surgery were: anastomotic leaking with peritonitis, biliary fistula, intestional adhesions with occlusion. Congenital duodenal obstruction (midgut volvulus, atresia, stenosis remains a challenging issue for pediatric surgeons, especially in our country, due to limited possibilities of quick diagnosis and treatment of associated anomalies.

  4. Delay in Diagnosis of Adrenal Insufficiency Is a Frequent Cause of Adrenal Crisis

    Directory of Open Access Journals (Sweden)

    Lucyna Papierska

    2013-01-01

    Full Text Available Delay of diagnosis of primary adrenal insufficiency (PAI leads to adrenal crisis which is potentially lethal complication. The objective of our work was an assessment whether the establishment of diagnosis of adrenocortical insufficiency in Poland is so much delayed as assessed in the past. We have analysed data from 60 patients with diagnosis of PAI established in our department during the past 12 years and who are still under our care. We found that the time to diagnosis of primary adrenal insufficiency in Poland exceeds 3 months in every patient and 6 months in patients admitted with symptoms of adrenal crisis. Forty-four percent of patients were diagnosed only just after the hospitalisation due to crisis, despite the evident signs and symptoms of PAI. Lack of appetite and loss of body weight occurred in all patients and for that reason a diagnosis of chronic gastric and duodenal ulcer disease was the most often incorrect diagnosis. After the proper diagnosis and treatment, in the course of 1–11 years of observation, there was only 6 imminent adrenal crises in 5 patients. Our results indicated that training of primary care physicians in the field of recognising and treatment of adrenal insufficiency is still essential.

  5. Mielolipoma adrenal bilateral em um cão Bilateral adrenal myelolipoma in a dog

    Directory of Open Access Journals (Sweden)

    Silvia de Araújo França

    2008-08-01

    Full Text Available O presente relato descreve um caso de mielolipoma adrenal bilateral em uma cadela Poodle de 13 anos de idade. O cão morreu por peritonite séptica aguda, decorrente de ulceração e perfuração intestinal por corpo estranho linear. O neoplasma foi achado incidentalmente durante a necropsia. Macroscopicamente, as adrenais estavam redondas e com volume e aumentados. Ao corte elas eram friáveis, vermelho-amarronzadas, intercaladas por áreas branco-amareladas levemente proeminentes. Histologicamente, extensas áreas do parênquima continham adipócitos bem diferenciados, células hematopoéticas e macrófagos com hemossiderina, achados característicos de mielolipoma adrenal.A case of bilateral adrenal myelolipoma in a 13-year-old female Poodle is reported. Acute septic peritonitis due to intestinal ulceration and perforation caused by a linear foreign body was the cause of death. The adrenal neoplasm was an incidental necropsy finding. The adrenal glands were grossly rounded, enlarged and friable, and had red-brownish parenchyma interwoven by slightly prominent white-yellowish foci. Histologically, the findings of differentiated adipocytes in large areas of the parenchyma, in association to hematopoietic cells and macrophages with hemosiderin were consistent with the diagnosis of adrenal myelolipoma.

  6. Paraganglioma funcional extra-adrenal

    Directory of Open Access Journals (Sweden)

    Laura Arroyo-Martínez

    2006-03-01

    Full Text Available Los paragangliomas funcionales son tumores raros, se originan del tejido cromafín extraadrenal productor de catecolaminas, con frecuencia son malignos y tienen alta incidencia de enfermedad persistente o recurrente¹. Se les conoce como: glomus, quemodectomas, paragangliomas cromafines y glomerulocitomas. La localización es diversa y refleja la distribución paraganglionar en el cuerpo, desde la base del cráneo hasta el piso pélvico. Los paragangliomas se encuentran en donde hay ganglios del sistema autónomo, sin embargo, aproximadamente el 90% de estos tumores aparecen en las glándulas suprarrenales (y constituyen los feocromocitomas y el 10% restante tienen una ubicación extraadrenal, mas se ha dicho que su incidencia puede ser subestimada, variando del 18% al 22% en adultos, y en niños hasta un 30%. Los extra-adrenales se originan con mayor frecuencia en el abdomen (85%, otros en el tórax (12% y más raramente en la cabeza y el cuello (3% ². Los estudios de imágenes y la medición de la producción no fisiológica de catecolaminas pueden ayudar en el diagnóstico de esta entidad. La cirugía es el tratamiento de elección. Presentamos aquí el caso de una paciente de 32 años, primigesta con HTAIE que requirió cesárea, quien tuvo un postparto tórpido y pese a múltiples tratamientos antihipertensivos su patología fue de difícil manejo, con complicaciones oftálmicas. Tiempo después la paciente se estudia por hiperhidrosis, se solicitan exámenes de laboratorio e imágenes y se le documenta incidentalmente, una tumoración retroperitoneal izquierda, se le amplían los estudios, y se llega al diagnóstico correcto. La tumoración requirió resección quirúrgica. Tuvo un postoperatorio satisfactorio y la paciente egresó con control en la Consulta Externa.Functioning paragangliomas are rare tumors that produce catecholamines. They originate from extra-adrenal chromaffin cells. They are frequentIy malignant and are associated

  7. Computed tomography of the adrenals in patients with tuberculosis

    International Nuclear Information System (INIS)

    We evaluated the adrenals of individuals without tuberculosis (group 1 - G1) and with tuberculosis (group 2 - G2) using computed tomography. The antero-posterior length, the thickness, and the longitudinal length of the adrenals were compared in G1 and G2. The duration of the disease, the occurrence of morphologic abnormalities in G2, the distribution according to sex, age and skin color were also studied. There was difference in the antero-posterior length and thickness of right adrenal between G1 and G2. A higher prevalence of white skin male individuals was observed in G2. There was no association between duration of the disease and the occurrence of morphologic abnormalities in G2. A higher occurrence of adrenal enlargement was observed in G2. The main computed tomography findings in patients with tuberculosis were enlargement of the adrenal without calcification, enlargement of the adrenal with punctiform calcifications, and residual calcification of the adrenal. (author)

  8. Congenital agenesis of seminal vesicle

    Institute of Scientific and Technical Information of China (English)

    Hong-Fei Wu; Di Qiao; Li-Xin Qian; Ning-Hong Song; Ning-Han Feng; Li-Xin Hua; Wei Zhang

    2005-01-01

    Congenital agenesis of the seminal vesicle (CASV) is frequently associated with congenital absence of the vas deferens (CAVD) or ipsilateral congenital vasoureteral communication. We reported two cases of a rare condition that the vas deferens open ectopically into Mullerian duct cyst associated with agenesis of the ipsilateral seminal vesicle. The diagnosis was confirmed by vasography. Transurethral unroofing of the Mullerian duct cyst was performed in both patients with favourable results, however, assisted reproductive technology (ART) was still necessary for them to father children.

  9. Early detection of congenital syphilis

    Directory of Open Access Journals (Sweden)

    Nagalakshmi Chowdhary

    2014-01-01

    Full Text Available Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson′s teeth.

  10. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... Home Health Conditions critical congenital heart disease critical congenital heart disease Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Critical congenital heart disease (CCHD) is a term that refers to a ...

  11. Genetics Home Reference: severe congenital neutropenia

    Science.gov (United States)

    ... Home Health Conditions severe congenital neutropenia severe congenital neutropenia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Severe congenital neutropenia is a condition that causes affected individuals to ...

  12. Genetics Home Reference: congenital leptin deficiency

    Science.gov (United States)

    ... Genetics Home Health Conditions congenital leptin deficiency congenital leptin deficiency Enable Javascript to view the expand/collapse ... Print All Open All Close All Description Congenital leptin deficiency is a condition that causes severe obesity ...

  13. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    Science.gov (United States)

    ... Health Conditions Fukuyama congenital muscular dystrophy Fukuyama congenital muscular dystrophy Enable Javascript to view the expand/collapse boxes. ... All Open All Close All Description Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the ...

  14. Classicalization of Quantum Variables

    CERN Document Server

    Koide, T

    2014-01-01

    A systematic procedure to extract classical degrees of freedom in quantum mechanics is formulated using the stochastic variational method. With this classicalization, a hybrid model constructed from quantum and classical variables (quantum-classical hybrids) is derived systematically. In this procedure, conservation laws such as energy are maintained, and Eherefest`s theorem is still satisfied with modification. The criterion for the applicability of quantum-classical hybrids is also investigated.

  15. Teaching the Interrelationship between Stress, Emotions, and Cardiovascular Risk Using a Classic Paper by Walter Cannon

    Science.gov (United States)

    Gwirtz, Patricia A.

    2008-01-01

    Classroom discussion of the classic article by Walter B. Cannon in 1914, entitled "The emergency function of the adrenal medulla in pain and the major emotions," is an excellent tool to teach graduate students the interaction between stress, emotions, and cardiovascular function. Using this article, we are able to review important early research…

  16. What classicality? Decoherence and Bohr's classical concepts

    CERN Document Server

    Schlosshauer, Maximilian

    2010-01-01

    Niels Bohr famously insisted on the indispensability of what he termed "classical concepts." In the context of the decoherence program, on the other hand, it has become fashionable to talk about the "dynamical emergence of classicality" from the quantum formalism alone. Does this mean that decoherence challenges Bohr's dictum and signifies a break with the Copenhagen interpretation-for example, that classical concepts do not need to be assumed but can be derived? In this paper we'll try to shine some light down the murky waters where formalism and philosophy cohabitate. To begin, we'll clarify the notion of classicality in the decoherence description. We'll then discuss Bohr's and Heisenberg's take on the quantum-classical problem and reflect on different meanings of the terms "classicality" and "classical concepts" in the writings of Bohr and his followers. This analysis will allow us to put forward some tentative suggestions for how we may better understand the relation between decoherence-induced classical...

  17. Pheochromocytoma complicated by cyanotic congenital heart disease: a case report.

    Science.gov (United States)

    Yamamoto, Keiko; Namba, Noriyuki; Kubota, Takuo; Usui, Takeshi; Takahashi, Kunihiko; Kitaoka, Taichi; Fujiwara, Makoto; Hori, Yumiko; Kogaki, Shigetoyo; Oue, Takaharu; Morii, Eiichi; Ozono, Keiichi

    2016-04-01

    Coincidental cyanotic congenital heart disease and pheochromocytoma is uncommon, although some cases have been reported. We describe a girl aged 15 yr and 11 mo with pheochromocytoma and tricuspid atresia treated by performing the Fontan surgery. The patient did not have any specific symptoms of syndrome related to pheochromoytoma or a family history of pheochromocytoma. During cardiac catheterization, her blood pressure increased markedly, and an α-blocker was administered. Catecholamine hypersecretion was observed in the blood and urine, and abdominal computed tomography revealed a tumor in the right adrenal gland. Scintigraphy showed marked accumulation of (123)I-metaiodobenzylguanidine in the tumor, which led to a diagnosis of pheochromocytoma. We did not detect any germline mutations in the RET, VHL, SDHB, SDHD, TMEM127, or MAX genes. This patient had experienced mild systemic hypoxia since birth, which may have contributed to the development of pheochromocytoma. PMID:27212797

  18. Molecular and Genetic Studies of Congenital Myopathies

    Science.gov (United States)

    2015-10-26

    Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

  19. Prevalence of Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Akhavan Karbasi Sedighah

    2009-05-01

    Full Text Available Congenital malformation (CM will begin to emerge as one of the major childhood health problems .Treatment and rehabilitation of children with congenital malformations are costly and complete recovery is usually impossible. The aim of this study was to determine frequency of CM in Yazd central city of the Islamic Republic of Iran to find out if there has been any difference in the rate and types of CM in this area. This descriptive-observational study carried on 4800 births delivered at all maternity hospitals in Yazd from October 2003 to June 2004. Prevalence of CM was 2.83% (2.86 % in male and 2.68 % in female out of the 136 cases 69(51.88% were males and 64 (48.12% were females and 3 with ambiguous genitalia. Positive family history of CM in sibling was in only 6 cases (4.41%.Overall, musculoskeletal (0.83%, central nerv-ous system (0.47% and genital system (0.37% were accounted as the most common. Frequency of CM was more seen in still birth (12.5% as in comparison to live birth (2.71%. There was not statistical difference be-tween prevalence of CM and neonatal's gender, gestational age, birth order and mother's age, drug ingestion, illness and parental consanguinity. In this study the overall prevalence of congenital malformation among the newborn was higher than those previous reported in Iran and determining the causes of this difference needs more extensive studies.

  20. Congenital acute megakaryocytic leukemia

    Directory of Open Access Journals (Sweden)

    N B Mathur

    2011-01-01

    Full Text Available Congenital leukemia (CL is an extremely rare disorder in the newborn, significant proportion of which is of myeloid origin, primarily of M4 or M5 morphology. As compared to pediatric leukemia, CL is a more aggressive disease. Acute myeloid leukemia (AML-M7 or acute megakaryocytic leukemia is a rare type of AML with an incidence of 0.5 per million per year. Median age of presentation is 6 years, and children may present with a broad variety of symptoms including low-grade fever, diarrhea, easy bruising, failure to gain weight and life-threatening conditions.

  1. Congenital anterior urethral diverticulum.

    Science.gov (United States)

    Singh, Sanjeet Kumar; Ansari, Ms

    2014-09-01

    Congenital anterior urethral diverticulum (CAUD) may be found all along the anterior urethra and may present itself at any age, from infant to adult. Most children with this condition present with difficulty in initiating micturition, dribbling of urine, poor urinary stream, or urinary tract infection. A careful history will reveal that these children never had a good urinary stream since birth, and the telltale sign is a cystic swelling of the penile urethra. In this paper, we present two cases of CAUD that were managed by excision of the diverticulum with primary repair. PMID:26328174

  2. Congenital granular cell epulis.

    Science.gov (United States)

    Conrad, Rachel; Perez, Mia C N

    2014-01-01

    Congenital granular cell epulis is a rarely reported lesion of unknown histogenesis with a strong predilection for the maxillary alveolar ridge of newborn girls. Microscopically, it demonstrates nests of polygonal cells with granular cytoplasm, a prominent capillary network, and attenuated overlying squamous epithelium. The lesion lacks immunoreactivity for S-100, laminin, chromogranin, and most other markers except neuron-specific enolase and vimentin. Through careful observation of its unique clinical, histopathologic, and immunohistochemical features, this lesion can be distinguished from the more common adult granular cell tumor as well as other differential diagnoses.

  3. Allgrove Syndrome: Adrenal Insufficiency with Hypertensive Encephalopathy.

    Science.gov (United States)

    Aftab, Sommayya; Manzoor, Jaida; Talat, Nabila; Khan, Hafiz Sajid; Subhanie, Maroof; Khalid, Nauman Abbas

    2016-09-01

    Allgrove syndrome or triple-Asyndrome is a rare familial multisystem autosomal recessive disorder. It is characterised by triad of alacrima, achalasia and adrenal insufficiency due to adrenocorticotropin hormone (ACTH) resistance. If it is associated with autonomic dysfunction, it is termed as 4-Asyndrome. This syndrome is caused by a mutation in the Achalasia - Addisonism - Alacrima (AAAS) gene on chromosome 12q13 encoding the nuclear pore protein ALADIN. A5-year boy presented with history of fits and altered sensorium for one day. He also had increased pigmentation of body and persistent vomiting since six months of age. Laboratory investigations and imaging revealed alacrimia, achalasia and adrenal insufficiency due to ACTH resistance. He had episodes of hypertensive crises, for which he was thoroughly investigated and it was found to be due to autonomic instability. Based on clinical findings and investigations he was diagnosed as case of Allgrove syndrome or 4-Asyndrome with autonomic dysfunction. PMID:27671188

  4. Congenital nystagmus and negative electroretinography

    Directory of Open Access Journals (Sweden)

    Roussi M

    2011-04-01

    Full Text Available Mirella Roussi, Hélène Dalens, Jean Jacques Marcellier, Franck BacinDepartment of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, FranceAbstract: Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17-18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB. This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina.Keywords: Congenital nystagmus, negative electroretinography, congenital night stationary blindness

  5. Renal infarction associated with adrenal pheochromocytoma.

    Science.gov (United States)

    Thewjitcharoen, Yotsapon; Atikankul, Taywin; Sunthornyothin, Sarat

    2013-09-01

    The coexistence of pheochromocytoma and renal artery stenosis had been reported occasionally from the possible mechanism of catecholoamine-induced vasospasm and extrinsic compression of renal artery in some reported cases. However, renal infarction caused by pheochromocytoma is an uncommon phenomenon. Herein, we report an interesting case of adrenal pheochromocytoma associated with renal artery thrombosis, which should be included in the differential diagnosis of pheochromocytoma patients who present with abdominal pain.

  6. Comparison of cortisol exposures and pharmacodynamic adrenal steroid responses to hydrocortisone suspension vs. commercial tablets.

    Science.gov (United States)

    Sarafoglou, Kyriakie; Gonzalez-Bolanos, Maria T; Zimmerman, Cheryl L; Boonstra, Timothy; Yaw Addo, O; Brundage, Richard

    2015-04-01

    The Endocrine Society Clinical Practice Guidelines on congenital adrenal hyperplasia (CAH) recommend against using hydrocortisone suspension based on a study that examined a commercial suspension. Our objective was to examine the absorption of an extemporaneously prepared hydrocortisone suspension and compare it to tablets. Secondary objectives were to evaluate the 17-hydroxyprogesterone and androstenedione adrenal steroid responses. Using a parallel design, 34 children diagnosed with CAH received either suspension (n = 9; median age 1.8 years) or tablets (n = 25; median age 7.5 years). Patients were given their usual morning hydrocortisone formulation and dose; 12 serial blood samples were obtained and the area under the curve (AUC) was calculated. The mg/m(2) dose-normalized cortisol AUCs were no different in the suspension and tablet groups (P = ·06), nor was there a significant difference in the C(max) or T(max) (P = .08 and P = .41, respectively). Although there were no differences in the 17-hydroxyprogesterone change-from-baseline AUCs, baseline concentrations, or the nadir concentrations when comparing suspension and tablet formulations, the androstenedione values were significantly lower as expected in the younger aged suspension group. Our results offer compelling evidence that an extemporaneously prepared hydrocortisone suspension provides comparable cortisol exposures to commercially available tablet formulations in children and can be used to safely and effectively treat CAH.

  7. Chronic Stress and Limbic-Hypothalamopituitary-Adrenal Axis (LHPA Response in Female Reproductive system

    Directory of Open Access Journals (Sweden)

    Farideh Zafari Zangeneh

    2009-12-01

    Full Text Available The hypothalamo-pituitary-adrenocortical (HPA axis is a critical adaptive system that maximizes survival potential in the face of physical or psychological challenge. The principal end products of the HPA axis, glucocorticoid hormones, act on multiple organ systems, including the brain, to maintain homeostatic balance. The brain is a target of stress, and the hippocampus is the first brain region, besides the hypothalamus, to be recognized as a target of glucocorticoids. These anatomical areas in brain are limbic system, and in particular the hippocampus, medial prefrontal cortex (mPFC and amigdal that have multiple control points in regulation of the hypothalamic–pituitary–adrenal (HPA axis. The studies show the prefrontal cortex (PFC plays an important role in the regulation of stress-induced hypothalamic–pituitary–adrenal (HPA activity and regulation of gonadal function in men and women is under the control of the HPA. This regulation is complex and sex steroids are important regulators of GnRH and gonadotropin release through classic feedback mechanisms in the hypothalamus and pituitary gland. Chronic stress can have a deleterious effect on the reproductive axis that, for females, is manifested in reduced pulsatile gonadotropin secretion and increased incidence of ovulatory abnormalities and infertility. The limbic–hypothalamic–pituitary–adrenal (LHPA axis suggests a functional role for gonadal steroids in the regulation of a female’s response to stress.

  8. [Genetics of congenital deafness].

    Science.gov (United States)

    Faundes, Víctor; Pardo, Rosa Andrea; Castillo Taucher, Silvia

    2012-10-20

    Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor neural disorder in developed countries, and its incidence is estimated between 1-3 children per 1,000 newborns, of which more than 50% are attributable to genetics causes. Deafness can be classified as syndromic or non-syndromic. In the first case, it is associated with outer ear malformations and/or systemic findings. More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss. The remaining percentage corresponds to non-syndromic cases: 75-85% are autosomal recessive, 15-24% are autosomal dominant, and 1-2% are X-linked. The evaluation of a child with deafness requires a multidisciplinary collaboration among specialists, who must coordinate themselves and give information to the affected family. The aims of establishing a diagnosis are to predict other manifestations that may suggest some syndrome and to anticipate their management, as well as to perform genetic counseling to parents and affected individuals.

  9. Congenital peritoneal encapsulation

    Institute of Scientific and Technical Information of China (English)

    Diana; Teixeira; Vítor; Costa; Paula; Costa; Carlos; Alpoim; Pinto; Correia

    2015-01-01

    Peritoneal encapsulation(PE) is a rare congenital malformation, characterized by a thin accessory peritoneal membrane which covers all or part of the small bowel, forming an accessory peritoneal sac. Most cases areasymptomatic and diagnosed incidentally during surgery and/or autopsy. Clinical presentation with intestinal obstruction is extremely rare and we report a case. A 25-year-old male, referred to emergency department with diffuse abdominal pain, crampy, with 8 h evolution, associated with nausea, vomiting and constipation in the last 48 h. The abdominal examination revealed an asymmetric and fixed distension, with hard consistency on palpation of lower abdominal quadrants. The abdominal radiography reveals a small bowel distension and fluid levels. Submitted to laparoscopic surgery that recourse to conversion because there is a total peritoneal encapsulation of the small bowel. After opening the peritoneal sac, we find a rotation of mesentery, at its root, conditioning twisting of small bowel and consequently occlusion. Uneventful postoperative with discharged at the 6th day. The PE is a very rare congenital anomaly characterized by abnormal bowel back into the abdominal cavity in the early stages of development. Your knowledge becomes important because, although rare, it might be diagnosis in patients with intestinal obstruction, in the absence of other etiologic factors.

  10. Congenital fiber type disproportion.

    Science.gov (United States)

    Kissiedu, Juliana; Prayson, Richard A

    2016-04-01

    Type I muscle fiber atrophy in childhood can be encountered in a variety of neuromuscular disorders. Congenital fiber type disproportion (CFTD) is one such condition which presents as a nonprogressive muscle weakness. The diagnosis is often made after excluding other differential diagnostic considerations. We present a 2-year-9-month-old full term boy who presented at 2 months with an inability to turn his head to the right. Over the next couple of years, he showed signs of muscle weakness, broad based gait and a positive Gower's sign. He had normal levels of creatine kinase and normal electromyography. A biopsy of the vastus lateralis showed a marked variation in muscle fiber type. The adenosine triphosphate (ATP)-ase stains highlighted a marked type I muscle atrophy with rare scattered atrophic type II muscle fibers. No abnormalities were observed on the nicotinamide adenine dinucleotide (NADH), succinate dehydrogenase (SDH) or cytochrome oxidase stained sections. Ragged red fibers were not present on the trichrome stain. Abnormalities of glycogen or lipid deposition were not observed on the periodic acid-Schiff or Oil-Red-O stains. Immunostaining for muscular dystrophy associated proteins showed normal staining. Ultrastructural examination showed a normal arrangement of myofilaments, and a normal number and morphology for mitochondria. A diagnosis of CFTD was made after excluding other causes of type I atrophy including congenital myopathy. The lack of specific clinical and genetic disorder associated with CFTD suggests that it is a spectrum of a disease process and represents a diagnosis of exclusion. PMID:26526626

  11. Congenital extrahepatic portosystemic shunts

    Energy Technology Data Exchange (ETDEWEB)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S. [Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario (Canada)

    2003-09-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  12. Determination of adrenal volume by MRI in healthy children

    DEFF Research Database (Denmark)

    Mouritsen, Annette; Johansen, Marie Lindhardt; Wohlfahrt-Veje, Christine;

    2014-01-01

    not measurable in 51% of children due to breathing and moving artefacts. The median volume of the right adrenal gland was 0.46 ml in girls and 0.46 ml in boys. The median volume of the left adrenal gland was 0.34 ml in girls and 0.40 ml in boys. Adrenal size was positively associated with body surface area......, to estimate adrenal size in healthy children and to evaluate determinants of adrenal volume such as age, gender, body size, pubic hair stage and serum levels of adrenal androgens. DESIGN: Two hundred and thirty-five healthy children (116 girls and 119 boys) (age range 10.0-14.8 years) were examined by MRI...

  13. Quantum computing classical physics.

    Science.gov (United States)

    Meyer, David A

    2002-03-15

    In the past decade, quantum algorithms have been found which outperform the best classical solutions known for certain classical problems as well as the best classical methods known for simulation of certain quantum systems. This suggests that they may also speed up the simulation of some classical systems. I describe one class of discrete quantum algorithms which do so--quantum lattice-gas automata--and show how to implement them efficiently on standard quantum computers.

  14. Differentiation of adrenal tumors in patients with hepatocellular carcinoma: Adrenal adenoma versus metastasis

    International Nuclear Information System (INIS)

    Objective: To investigate whether computed tomography (CT) attenuation test for differential diagnosis of adrenal nodule is applicable in patients with hepatocellular carcinoma (HCC) which shows similar image characteristics to adrenal adenoma. Materials and methods: This retrospective study was approved by our institutional review board, and the requirement for informed consent from study patients was waived. Searching picture archiving and communication system, we identified 3678 patients with HCC who underwent upper abdominal unenhanced CT scans between April 2002 and March 2010, and 114 adrenal nodules (39 adenomas and 75 metastases) were included for analysis. Ten nodules were confirmed pathologically while 104 had imaging diagnosis (enlarged or emerged during the study period). Size, CT number, and the internal characteristics of the lesions were recorded. Results: Mean CT numbers of adrenal adenomas were significantly lower than those of metastases (P < 0.0001, t-test) on unenhanced CT. Thresholds of 17 and 33 Hounsfield units (HU) provided the following sensitivity, specificity, and accuracy: 46.2%, 100%, and 81.6% at 17 HU, and 94.9%, 89.3%, and 91.2% at 33 HU, respectively. The area under receiver operating characteristic curve for the CT number test was 0.96. Metastases were significantly larger than adrenal adenoma (P = 0.009, t-test). However, the accuracy of testing using mass size was 64.0% at most. All adenomas and metastases were depicted as homogeneous masses with the exception of two metastases that presented as heterogeneous masses (necrotic or lipomatous). Conclusion: Adrenal adenomas can be differentiated from HCC metastases using CT number on unenhanced CT

  15. Differentiation of adrenal tumors in patients with hepatocellular carcinoma: Adrenal adenoma versus metastasis

    Energy Technology Data Exchange (ETDEWEB)

    Yasaka, Koichiro, E-mail: koyasaka@gmail.com [Department of Radiology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655 (Japan); Gonoi, Wataru; Akai, Hiroyuki; Katsura, Masaki; Akahane, Masaaki [Department of Radiology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655 (Japan); Kiryu, Shigeru [Department of Radiology, The Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639 (Japan); Ohtomo, Kuni [Department of Radiology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655 (Japan)

    2013-08-15

    Objective: To investigate whether computed tomography (CT) attenuation test for differential diagnosis of adrenal nodule is applicable in patients with hepatocellular carcinoma (HCC) which shows similar image characteristics to adrenal adenoma. Materials and methods: This retrospective study was approved by our institutional review board, and the requirement for informed consent from study patients was waived. Searching picture archiving and communication system, we identified 3678 patients with HCC who underwent upper abdominal unenhanced CT scans between April 2002 and March 2010, and 114 adrenal nodules (39 adenomas and 75 metastases) were included for analysis. Ten nodules were confirmed pathologically while 104 had imaging diagnosis (enlarged or emerged during the study period). Size, CT number, and the internal characteristics of the lesions were recorded. Results: Mean CT numbers of adrenal adenomas were significantly lower than those of metastases (P < 0.0001, t-test) on unenhanced CT. Thresholds of 17 and 33 Hounsfield units (HU) provided the following sensitivity, specificity, and accuracy: 46.2%, 100%, and 81.6% at 17 HU, and 94.9%, 89.3%, and 91.2% at 33 HU, respectively. The area under receiver operating characteristic curve for the CT number test was 0.96. Metastases were significantly larger than adrenal adenoma (P = 0.009, t-test). However, the accuracy of testing using mass size was 64.0% at most. All adenomas and metastases were depicted as homogeneous masses with the exception of two metastases that presented as heterogeneous masses (necrotic or lipomatous). Conclusion: Adrenal adenomas can be differentiated from HCC metastases using CT number on unenhanced CT.

  16. Prolonged adrenal insufficiency after unilateral adrenalectomy for Cushing's Syndrome.

    Science.gov (United States)

    Kulshreshtha, Bindu; Arora, Arpita; Aggarwal, Anshita; Bhardwaj, Minakshi

    2015-01-01

    The contralateral healthy adrenal in patients undergoing unilateral adrenalectomy for Cushing's is known to be suppressed temporarily and forms the basis of peri and postoperative steroids. We present four cases of Cushing's who had prolonged adrenal insufficiency with continued requirement for steroids for periods ranging 1-4 years after unilateral adrenalectomy for Cushing's. We further review literature regarding the recovery of the hypothalamo pituitary adrenal axis postsurgery in patients with Cushing's syndrome.

  17. Idiopathic Spontaneous Adrenal Hemorrhage in the Third Trimester of Pregnancy

    Directory of Open Access Journals (Sweden)

    Narin Nasiroglu Imga

    2013-01-01

    Full Text Available Spontaneous adrenal hemorrhage (SAH is seen in the absence of trauma or adrenal tumor in adrenal glands. The incidence of SAH has been reported from 0.14% to 1.1% and it usually involves the right gland. During pregnancy, idiopathic unilateral SAH has been reported rarely. We present a case which comes to emergency department with an acute abdominal pain and the test results showed spontaneous left SAH.

  18. Idiopathic Spontaneous Adrenal Hemorrhage in the Third Trimester of Pregnancy

    OpenAIRE

    Narin Nasiroglu Imga; Yasemin Tutuncu; Mazhar Muslum Tuna; Berçem Ayçıçek Doğan; Dilek Berker; Serdar Guler

    2013-01-01

    Spontaneous adrenal hemorrhage (SAH) is seen in the absence of trauma or adrenal tumor in adrenal glands. The incidence of SAH has been reported from 0.14% to 1.1% and it usually involves the right gland. During pregnancy, idiopathic unilateral SAH has been reported rarely. We present a case which comes to emergency department with an acute abdominal pain and the test results showed spontaneous left SAH.

  19. Spontaneous Bilateral Adrenal Haemorrhage after Duodenopancreatectomy: a case report.

    Science.gov (United States)

    Guglielmo, N; Montalto, G M; Della Pietra, F; Garofalo, M; Mennini, G; Melandro, F; Berloco, P B

    2015-01-01

    it is difficult to diagnose because of its nonspecific presentation. This condition frequently occurs in association with an extreme physical stress and may lead to acute adrenal insufficiency or death if not promptly and properly treated. We report a rare case of acute bilateral adrenal hemorrhage with adrenal insufficiency following duodenopancreatectomy for ampulloma in absence of surgical complications. Early diagnosis and corticosteroid replacement with aggressive management of the precipitating pathology are essential to enable a successful outcome. PMID:25945442

  20. Curative surgical management of isolated adrenal recurrence of oesophageal adenocarcinoma.

    LENUS (Irish Health Repository)

    O'Sullivan, K E

    2013-01-01

    Adrenal metastases of oesophageal adenocarcinoma are rarely detected in the clinical setting, more frequently being found as an incidental postmortem finding in the presence of widespread metastases. With improvements in the sensitivity of radiological diagnostic modalities, the incidence of adrenal tumour detection is on the rise. We report herein a particularly rare case of primary operative management by adrenalectomy for an isolated right-sided adrenal metastasis secondary to oesophageal adenocarcinoma, with a long-term survival.

  1. Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

    DEFF Research Database (Denmark)

    Johannsen, T H; Ripa, Caroline P.L.; Carlsen, E;

    2010-01-01

    Background. Our knowledge on long-term outcome in CAH remains incomplete. Methods. In a prospective study (33 CAH patients, 33 age-matched controls), reproductive outcomes, self-rating of genital appearance and function, and sexuality were correlated to degree of initial virilisation, genotype, a...

  2. Gender Dysphoria in a 62-Year-Old Genetic Female With Congenital Adrenal Hyperplasia.

    Science.gov (United States)

    Silveira, Mariana Telles; Knobloch, Felícia; Silva Janovsky, Carolina C P; Kater, Claudio E

    2016-10-01

    We report a case of gender dysphoria (GD) in a 62-year-old genetic female patient, raising the pros and cons of performing corrective surgery later in life. This 46,XX DSD patient was registered and reared as a girl; CAH was diagnosed late in childhood. Poor adherence to treatment and lack of proper psychological management contributed to evident GD. Living for years as a male, the patient applied for a legitimate male identification document in his late 50s; thereafter, he requested a sex-reassignment surgery "to disguise his female body upon his death." We informed the patient and family about surgery hazards, while analytical therapy allowed the group to evaluate the actual wish for surgery. When the wish was brought up, the role of death urged the group to rethink the course of treatment. During the process, it became clear that the patient's desire for surgery, more than a wish for changing the genitalia, expressed an impulse related to issues of endorsement and acceptance of his male identity. This report raises interesting questions about sexuality in a social context and prompts the idea that sexuality is broader than sex itself, raising new questions on the psychological risks faced when considering a body change after years of living with a disorder of sex development. PMID:27270635

  3. Androgens and cognitive abilities: Mental rotations skills and handedness in adult females with congenital adrenal hyperplasia

    DEFF Research Database (Denmark)

    Ripa, Caroline P.L.; Johannsen, T.H.; Mortensen, E.L.;

    2006-01-01

    Research on animal and human populations has suggested elevated spatial abilities as well as higher incidence of left-handedness in genetic females exposed to abnormally high androgen levels perinatally. However, findings in humans are inconsistent. We administered the Mental Rotations Test...

  4. Mineralocorticoid replacement during infancy for salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency

    Directory of Open Access Journals (Sweden)

    Larissa G. Gomes

    2013-01-01

    Full Text Available OBJECTIVE: The protocols for glucocorticoid replacement in children with salt wasting 21-hydroxylase deficiency are well established; however, the current recommendation for mineralocorticoid replacement is general and suggests individualized dose adjustments. This study aims to retrospectively review the 9-∝-fludrocortisone dose regimen in salt wasting 21-hydroxylase deficient children who have been adequately treated during infancy. METHODS: Twenty-three salt wasting 21-hydroxylase deficient patients with good anthropometric and hormonal control were followed in our center since diagnosis. The assessments of cortisone acetate and 9-∝-fludrocortisone doses, anthropometric parameters, and biochemical and hormonal levels were rigorously evaluated in pre-determined intervals from diagnosis to two years of age. RESULTS: The 9-∝-fludrocortisone doses decreased over time during the first and second years of life; the median fludrocortisone doses were 200 µg at 0-6 months, 150 µg at 7-18 months and 125 µg at 19-24 months. The cortisone acetate dose per square meter was stable during follow-up (median = 16.8 mg/m²/day. The serum sodium, potassium and plasma rennin activity levels during treatment were normal, except in the first month of life, when periodic 9-∝-fludrocortisone dose adjustments were made. CONCLUSIONS: The mineralocorticoid needs of salt wasting 21-hydroxylase deficient patients are greater during early infancy and progressively decrease during the first two years of life, which confirms that a partial aldosterone resistance exists during this time. Our study proposes a safety regiment for mineralocorticoid replacement during this critical developmental period.

  5. Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.

    Science.gov (United States)

    Johannsen, T H; Ripa, C P L; Carlsen, E; Starup, J; Nielsen, O H; Schwartz, M; Drzewiecki, K T; Mortensen, E L; Main, K M

    2010-01-01

    Background. Our knowledge on long-term outcome in CAH remains incomplete. Methods. In a prospective study (33 CAH patients, 33 age-matched controls), reproductive outcomes, self-rating of genital appearance and function, and sexuality were correlated to degree of initial virilisation, genotype, and surgery. Results. Patients had larger median clitoral lengths (10.0 mm [range 2-30] versus 3.5 [2-8], P Satisfaction with genital appearance was lower and negatively correlated to degree of initial virilisation (r(s) = ≤-0.39, P ≤ .05). More patients had never had intercourse (P = .001), and age at 1st intercourse was higher (18 yrs versus 16 yrs, P = .02). Conclusion. Despite overall acceptable cosmetic results, reproductive outcomes were suboptimal, supporting that multidisciplinary teams should be involved in adult follow up of CAH patients. PMID:20981283

  6. Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

    OpenAIRE

    Johannsen, T. H.; Ripa, C. P. L.; Carlsen, E; Starup, J.; Nielsen, O. H.; Schwartz, M.; Drzewiecki, K. T.; Mortensen, E. L.; Main, K. M.

    2010-01-01

    Background. Our knowledge on long-term outcome in CAH remains incomplete. Methods. In a prospective study (33 CAH patients, 33 age-matched controls), reproductive outcomes, self-rating of genital appearance and function, and sexuality were correlated to degree of initial virilisation, genotype, and surgery. Results. Patients had larger median clitoral lengths (10.0 mm [range 2–30] versus 3.5 [2–8], P < .001), shorter vaginal length (121 mm [100–155] versus 128 [112–153], P = .12), lower uteri...

  7. Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

    OpenAIRE

    Drzewiecki; Schwartz M; Nielsen OH; Starup J; Carlsen E; Ripa CPL; Johannsen TH; Mortensen EL; Main KM

    2010-01-01

    Background. Our knowledge on long-term outcome in CAH remains incomplete. Methods. In a prospective study (33 CAH patients, 33 age-matched controls), reproductive outcomes, self-rating of genital appearance and function, and sexuality were correlated to degree of initial virilisation, genotype, and surgery. Results. Patients had larger median clitoral lengths (10.0 mm [range 2–30] versus 3.5 [2–8], ), shorter vaginal length (121 mm [100–155] versus 128 [112–153], ), lower uterine volumes (29...

  8. Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

    Directory of Open Access Journals (Sweden)

    Drzewiecki

    2010-08-01

    Full Text Available Background. Our knowledge on long-term outcome in CAH remains incomplete. Methods. In a prospective study (33 CAH patients, 33 age-matched controls, reproductive outcomes, self-rating of genital appearance and function, and sexuality were correlated to degree of initial virilisation, genotype, and surgery. Results. Patients had larger median clitoral lengths (10.0 mm [range 2–30] versus 3.5 [2–8], , shorter vaginal length (121 mm [100–155] versus 128 [112–153], , lower uterine volumes (29.1 ml [7.5–56.7] versus 47.4 [15.9–177.5], , and higher ovarian volumes (4.4 ml [1.3–10.8] versus 2.8 [0.6–10.8], than controls. Satisfaction with genital appearance was lower and negatively correlated to degree of initial virilisation (. More patients had never had intercourse (, and age at 1st intercourse was higher (18 yrs versus 16 yrs, . Conclusion. Despite overall acceptable cosmetic results, reproductive outcomes were suboptimal, supporting that multidisciplinary teams should be involved in adult follow up of CAH patients.

  9. Gender Dysphoria in a 62-Year-Old Genetic Female With Congenital Adrenal Hyperplasia.

    Science.gov (United States)

    Silveira, Mariana Telles; Knobloch, Felícia; Silva Janovsky, Carolina C P; Kater, Claudio E

    2016-10-01

    We report a case of gender dysphoria (GD) in a 62-year-old genetic female patient, raising the pros and cons of performing corrective surgery later in life. This 46,XX DSD patient was registered and reared as a girl; CAH was diagnosed late in childhood. Poor adherence to treatment and lack of proper psychological management contributed to evident GD. Living for years as a male, the patient applied for a legitimate male identification document in his late 50s; thereafter, he requested a sex-reassignment surgery "to disguise his female body upon his death." We informed the patient and family about surgery hazards, while analytical therapy allowed the group to evaluate the actual wish for surgery. When the wish was brought up, the role of death urged the group to rethink the course of treatment. During the process, it became clear that the patient's desire for surgery, more than a wish for changing the genitalia, expressed an impulse related to issues of endorsement and acceptance of his male identity. This report raises interesting questions about sexuality in a social context and prompts the idea that sexuality is broader than sex itself, raising new questions on the psychological risks faced when considering a body change after years of living with a disorder of sex development.

  10. A case report of young hypertensive with primary amenorrhea: uncommon variant of congenital adrenal hyperplasia

    Directory of Open Access Journals (Sweden)

    Divendu Bhushan

    2015-10-01

    Full Text Available Hypertension in young should be evaluated in detail because secondary causes are more common in this subset of patients. As on one hand it help us in treating blood pressure and its complications including stroke , coronary artery disease and renal failure, other hand we should also treat the other complications like growth, puberty and electrolyte imbalance. Here we present a case who admitted in cardiology unit with accelerated HTN and hypokalaemia, and on detailed evaluation found to have primary amenorrhea. Identification of the cause not only leads to correct hypertension with minimal drugs but she got the reason of her amenorrhea. [Int J Reprod Contracept Obstet Gynecol 2015; 4(5.000: 1642-1644

  11. Behavioural Outcome in Children with Congenital Adrenal Hyperplasia: Experience of a Single Centre

    Directory of Open Access Journals (Sweden)

    Arini Nuran Idris

    2014-01-01

    Full Text Available The aim of this study was to determine the behavioral outcome in children with CAH and to identify the risk factors that may influence it. Participants (aged 6–18 years included 29 girls and 20 boys with CAH and unaffected siblings (25 girls and 17 boys. Psychological adjustment was assessed with parent reports on the Child Behavior Checklist (CBCL. Information about disease characteristics was obtained from medical records. Our study reveals that there was higher incidence of parent-reported problem of anxious/depressed and withdrawn/depressed behaviours, somatic complaints, social, thought, and attention problems, and rule-breaking, aggressive, internalizing, and externalizing behaviour among children with CAH compared to controls. The prevalence of internalizing behaviour problems was higher in CAH boys compared with that of controls. Psychosocial adjustment of girls with CAH was found to be similar to unaffected female controls and was within the normal population range. Family income may be associated with behavioral outcome. Glucocorticoid dose may reflect disease severity which may be associated with behavioral outcome. We conclude that internalizing behavioral problem was prevalent among boys with CAH reflecting maladaptive adjustment in coping with chronic illness. This highlighted the importance of psychological and social support for the patients and their families.

  12. Congenital Adrenal Hyperplasia Complicated by Central Precocious Puberty – clinical case

    OpenAIRE

    Bandeira, A.; Cardoso, H.; Borges, T

    2006-01-01

    RESUMO Algumas crianças com hiperplasia da supra-renal com instituição tardia da terapêutica e/ou má aderência ao tratamento desenvolvem puberdade precoce central por maturação precoce do eixo hipotálamo-hipófise. Os autores apresentam um caso clínico de uma criança, do sexo masculino, com 5 anos e 9 meses de idade, que é referenciada à consulta por pubarca precoce. O estudo efectuado revelou tratarse de uma hiperplasia da supra-renal, forma não clássica, p...

  13. Congenital hypothyroidism: current perspectives

    Directory of Open Access Journals (Sweden)

    Dayal D

    2015-07-01

    Full Text Available Devi Dayal, Rajendra Prasad Department of Pediatrics, Pediatric Endocrinology and Diabetes Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India Abstract: Congenital hypothyroidism (CH, the most common pediatric endocrine disorder with an estimated prevalence of 1:2,000 to 1:4,000, is an under-recognized problem in countries without routine newborn screening (NBS programs. Thyroid dysgenesis (TD is the most common cause of primary CH accounting for approximately 85% of all cases; most of the remaining patients have dyshormonogenesis. Transient CH and CH with eutopic gland, are increasingly being identified after introduction of routine NBS. The clinical features of CH are often subtle resulting in delayed diagnosis and eventually poor intellectual outcome. In developed countries, detection by NBS and early initiation of treatment has largely eliminated the intellectual disability caused by this disorder. The lower screening thyroid stimulating hormone (TSH cutoff and changes in birth demographics in some countries have been associated with an increase in the reported incidence of CH. However, the additional cases detected by the lower TSH cutoff tend to have either milder or transient hypothyroidism. Diagnosis of CH is made on the basis of serum concentrations of TSH and thyroxine (T4. Thyroid ultrasound, radionuclide scintigraphy, serum thyroglobulin (TG levels and specific genetic tests help ascertaining the exact etiological diagnosis. Non-availability of later tests should not deter the pediatrician from initiation of treatment. Age at initiation of treatment and starting dose of levothyroxine are critical factors that determine the long-term outcome. Higher doses of levothyroxine at 10–15 µg/kg/day are required in infants, with titration based on T4 and TSH levels, which are repeated frequently. Coexistence of other congenital anomalies in children with CH adds to the morbidity. Approximately 70% of babies

  14. Cushing’s Syndrome During Pregnancy Secondary to Adrenal Adenoma

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    Fateme Mostaan

    2012-01-01

    Full Text Available Pregnancy rarely occurs in untreated cases of Cushing's syndrome (CS , because most of them are infertile due to significant maternal and fetal complications during pregnancy. Diagnosis of CS may be difficult during pregnancy. Since physiological changes of pregnancy are overlapped by classical presentation and biological confirmation of CS. Therefore the high clinical suspicious is needed for diagnosis. We present a 33 years old pregnant woman with a history of chronic hypertension from 10 years ago that referred to Imam Khomeini hospital for uncontrolled hypertension, gestational diabetes and fetal tachycardia at the 30 weeks of gestation. After initial studies abdominal MRI detected a 43 x 35 x 29 mm right adrenal mass. She was treated by anti-hypertensive drugs. But at 31.5 weeks of gestational age cesarean section was performed due to sever preeclampsia. Then two weeks after delivery open right adrenalectomy was carried out without any complications and in the histopathological evaluation benign adrenocortical adenoma was reported. CS is associated with considerable fetal and maternal morbidity and mortality. Selection of treatment method is variable and it depends on gestational age. Medical and surgical approaches have been used in managing CS in pregnancy. Surgical treatment is the first choice for CS which is recommended at the second trimester and in the late pregnancy medical treatment is preferred.

  15. Estudio de 34 pacientes con incidentaloma suprarrenal A study of 34 cases of adrenal incidentaloma

    Directory of Open Access Journals (Sweden)

    Raúl A. Chervin

    2007-08-01

    clinical concern. Although in most cases they are benign and hormonally nonfunctioning, it is important to appropriately identify those few cases of malignant or hyperfunctioning lesions of surgical resolution. Although several proposals for an optimal diagnostic strategy have been designed, controversy over a series of questions still persists. In the present retrospective study we analyzed 34 patients with adrenal incidentaloma. Of these, 32% of the patients displayed hyperfunctioning pathologies that included subclinical Cushing's syndrome in four patients, probable primary hyperaldosteronism in two, late onset congenital adrenal hyperplasia in one, adrenocortical carcinoma in one and pheochromocytoma in three. CT and/or MRI permitted the identification of adenomas and were crucial to decide on surgery in two patients with nonfunctioning pheochromocytomas and in a patient carrying a primitive adrenocortical carcinoma, a diagnosis also suggested by a mixed pattern of hypersecretion of androgens and cortisol. In a diabetic and hypertensive patient with subclinical Cushing's syndrome both comorbidities were solved by surgery. Nonfunctioning tumors were mainly adenomas (87% with individual cases of histoplasmosis, pseudocyst, idiopathic adrenal hyperplasia and mielolipoma. Six of the eight operated patients presented malignant and/or hyperfunctioning tumors. The pathology associated with incidentalomas represents a broad spectrum of risk for patients and reaffirms the necessity for a meticulous clinical, biochemical, and imaging evaluation in order to make appropriate decisions.

  16. Entanglement in Classical Optics

    CERN Document Server

    Ghose, Partha

    2013-01-01

    The emerging field of entanglement or nonseparability in classical optics is reviewed, and its similarities with and differences from quantum entanglement clearly pointed out through a recapitulation of Hilbert spaces in general, the special restrictions on Hilbert spaces imposed in quantum mechanics and the role of Hilbert spaces in classical polarization optics. The production of Bell-like states in classical polarization optics is discussed, and new theorems are proved to discriminate between separable and nonseparable states in classical wave optics where no discreteness is involved. The influence of the Pancharatnam phase on a classical Bell-like state is deived. Finally, to what extent classical polarization optics can be used to simulate quantum information processing tasks is also discussed. This should be of great practical importance because coherence and entanglement are robust in classical optics but not in quantum systems.

  17. Congenital Self-Healing Reticulohistiocytosis

    Science.gov (United States)

    Lee, Young H.; Talekar, Mala K.; Chung, Catherine G.; Bell, Moshe D.

    2014-01-01

    Congenital self-healing reticulohistiocytosis, also known as congenital self-healing Langerhans cell histiocytosis or Hashimoto-Pritzker disease, is a Langerhans cell histiocytosis. It is characterized by skin lesions in the newborn period in an otherwise healthy infant that show a Langerhans cell infiltrate in the skin on histological analysis. These findings subsequently spontaneously involute. This report describes two newborns who presented at birth with differing presentations of congenital self-healing reticulohistiocytosis. A review of the disorder, including diagnosis and evaluation, is presented. PMID:24578781

  18. Congenital hypothyroidism: Screening dilemma

    Directory of Open Access Journals (Sweden)

    Meena P Desai

    2012-01-01

    Full Text Available Primary sporadic congenital hypothyroidism (CH is the most common cause of hypothyroidism infancy early childhood in iodine sufficient region. Screening for neonatal CH began in 1970s. The rationale and reason for neonatal screening for CH (NSCH are well established. It is mandatory in most developed countries along with the screen for metabolic disorder. The possibility of measuring TSH and thyroid hormones in cord blood paved the way for newborn screening (NS for CH. Worldwide it is estimated that 25% of the live born population of 130 million babies undergo NSCH. Klein et al., by 1972 had shown improved CNS prognosis in CH treated by age 3 months. NSCH has largely eradicated the severe irreversible neurodevelopmental damage and reversed the chances of growth failure in infancy and early childhood.

  19. Congenital Goitre in Goats

    Directory of Open Access Journals (Sweden)

    A. H. Cheema, A. Shakoor and A. H. Shahzad

    2010-01-01

    Full Text Available One full-term, dead foetus was successfully removed from a 5-year old, crossbred black and white goat. The goat was stall-fed with green fodder and it delivered two dead foetuses in the previous pregnancy. The foetus had a large swelling in the cranio-ventral neck region. Upon cutting skin, the swelling revealed extremely enlarged thyroid gland having two asymmetrical lobes with the right lobe was 8.10 x 15.0 cm and the left 5.5 x 8.6 cm in size. The skin was devoid of hair, pale-white and thickened with myxedema. Histologically, the enlarged thyroid consisted of colloid goitre and the lungs were oedematous. This case of congenital goitre was unusual and differed from the reported cases in two aspects viz 1 the two lobes were enlarged but unequal and 2 histologically goitre was colloid instead of usual hyperplastic type.

  20. Giant Congenital Melanocytic Nevus

    DEFF Research Database (Denmark)

    Rasmussen, Bo Sonnich; Henriksen, Trine Foged; Kølle, Stig-Frederik Trojahn;

    2015-01-01

    % versus 44% required unplanned additional surgery, respectively. Complications were noted in 25% and 67% of the patients, respectively. Cosmetic result was satisfying in 76% of patients without difference between the groups. No malignant transformation was found during a mean follow-up of 11 years......Giant congenital melanocytic nevi (GCMN) occur in 1:20,000 livebirths and are associated with increased risk of malignant transformation. The treatment of GCMN from 1981 to 2010 in a tertiary referral center was reviewed evaluating the modalities used, cosmetic results, associated complications......, and malignant transformation. Of 35 patients, 25 underwent surgery. Curettage was most frequently used (64%) followed by excision and tissue expansion (20%). Six percent of the patients treated with curettage, and 78% of the patients who received excision surgery required more than 1 planned procedure, and 25...

  1. Are traumatic bilateral adrenal injuries associated with higher morbidity and mortality?-A prospective observational study

    OpenAIRE

    Panda, Ananya; Kumar, Atin; Gamanagatti, Shivanand; Bhalla, Ashu Seith; Sharma, Raju; Kumar, Subodh; Mishra, Biplab

    2015-01-01

    Background Traumatic bilateral adrenal injuries are uncommon. Adrenal injuries are overall associated with worse outcome than non-adrenal injuries. However, direct comparative evidence between unilateral and bilateral adrenal injuries is unavailable in literature. This study aims to investigate clinical significance of bilateral adrenal hematomas in terms of injury severity, morbidity and mortality. Methods All blunt trauma abdomen patients with adrenal gland involvement on initial CECT scans...

  2. Cancerous leptomeningitis and familial congenital hypopituitarism.

    Science.gov (United States)

    Vujovic, S; Vujosevic, S; Kavaric, S; Sopta, J; Ivovic, M; Saveanu, A; Brue, T; Korbonits, M; Popovic, V

    2016-05-01

    People are at higher risk of cancer as they get older or have a strong family history of cancer. The potential influence of environmental and behavioral factors remains poorly understood. Earlier population and case control studies reported that upper quartile of circulating IGF-I is associated with a higher risk of developing cancer suggesting possible involvement of the growth hormone (GH)/IGF system in initiation or progression of cancer. Since GH therapy increases IGF-1 levels, there have been concerns that GH therapy in hypopituitarism might increase the risk of cancer. We report a 42-year-old female patient who presented with subacute onset of symptoms of meningitis and with the absence of fever which resulted in death 70 days after the onset of symptoms. The patient together with her younger brother was diagnosed at the age of 5 years with familial congenital hypopituitarism, due to homozygous mutation c.150delA in PROP1 gene. Due to evolving hypopituitarism, she was replaced with thyroxine (from age 5), hydrocortisone (from age 13), GH (from age 13 until 17), and sex steroids in adolescence and adulthood. Her consanguineous family has a prominent history of malignant diseases. Six close relatives had malignant disease including her late maternal aunt with breast cancer. BRCA 1 and BRCA 2 mutational analysis in the patient's mother was negative. Histology after autopsy disclosed advanced ovarian cancer with multiple metastases to the brain, leptomeninges, lungs, heart, and adrenals. Low circulating IGF-1 did not seem to protect this patient from cancer initiation and progression in the context of strong family history of malignancies. PMID:26886902

  3. Congenital heart defect corrective surgeries

    Science.gov (United States)

    ... open Arrhythmias Atrial septal defect (ASD) Breathing difficulty Cardiac catheterization Cardiovascular Coarctation of the aorta Congenital heart disease Heart failure - overview Heart transplant Hypoplastic left heart syndrome Patent ductus arteriosus Pediatric ...

  4. Diagnosis of Congenital Myasthenic Syndromes

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2004-02-01

    Full Text Available Clinical and neurophysiological data of 11 patients (4 males, 7 females with congenital myasthenic syndromes (CMS diagnosed between 1994 and 2000 are reported from Great Ormond Street Hospital, London, UK.

  5. CONGENITAL QUADRICUSPID AORTIC-VALVE

    NARCIS (Netherlands)

    BROUWER, MHJ; DEGRAAF, JJ; EBELS, T

    1993-01-01

    Two patients with a quadricuspid aortic valve are described, one of them with concomitant juxtaposed coronary orifices facing the right hand facing sinus. The etiology and incidence of this congenital anomaly will be discussed.

  6. Genetics Home Reference: congenital hyperinsulinism

    Science.gov (United States)

    ... Z, Arya VB, Hussain K. Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management. J Clin Res Pediatr Endocrinol. ... Shyng SL, Stanley CA. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel ...

  7. Adrenal Metastasis from Uterine Papillary Serous Carcinoma.

    Science.gov (United States)

    Singh Lubana, Sandeep; Singh, Navdeep; Tuli, Sandeep S; Seligman, Barbara

    2016-01-01

    BACKGROUND Uterine papillary serous carcinoma (UPSC) is a highly malignant form of endometrial cancer with a high propensity for metastases and recurrences even when there is minimal or no myometrial invasion. It usually metastasizes to the pelvis, retroperitoneal lymph nodes, upper abdomen, and peritoneum. However, adrenal metastases from UPSC is extremely rare. Here, we present a case of UPSC with adrenal metastasis that occurred 6 years after the initial diagnosis. CASE REPORT A 60-year-old woman previously diagnosed with uterine papillary serous carcinoma at an outside facility presented in September of 2006 with postmenopausal bleeding. She underwent comprehensive surgical staging with FIGO (International Federation of Gynecology and Obstetrics) stage 2. Post-operatively, the patient was treated with radiation and chemotherapy. The treatment was completed in April of 2007. The patient had no evidence of disease until July 2009 when she was found to have a mass highly suspicious for malignancy. Subsequently, she underwent right upper lobectomy. The morphology of the carcinoma was consistent with UPSC. She refused chemotherapy due to a previous history of chemotherapy-induced neuropathy. The patient was followed up with regular computed tomography (CT) scans. In October 2012 a new right adrenal nodule was seen on CT, which showed intense metabolic uptake on positron emission tomography (PET)/CT scan. The patient underwent right adrenalectomy. Pathology of the surgical specimen was consistent with UPSC. CONCLUSIONS UPSC is an aggressive variant of endometrial cancer associated with high recurrence rate and poor prognoses. Long-term follow-up is needed because there is a possibility of late metastases, as in this case. PMID:27117594

  8. Extra-adrenal Pheochromocytoma in an Adolescent

    Directory of Open Access Journals (Sweden)

    Abdullah, Ibrahim

    2011-05-01

    Full Text Available A 17-year-old male with symptoms of headache and diaphoresis presented to the emergency department. He had eight months of noted hypertension attributed to medications. On arrival his blood pressure was 229/117mmHg, and he was ill-appearing. His blood pressure was managed aggressively, and he was diagnosed with extra-adrenal pheochromocytoma by computed tomography. He eventually underwent resection of the mass. Children with severe, symptomatic hypertension should be evaluated for pheochromocytoma. Although rare, it is curable. Failure to diagnose carries a high risk of morbidity and mortality. [West J Emerg Med. 2011;12(2:258-261.

  9. Renal Cell Carcinoma Mimicking Adrenal Tumor

    Directory of Open Access Journals (Sweden)

    Mohammad Kazem Moslemi

    2010-01-01

    Full Text Available There are a variety of causes of adrenal pseudotumors on computerized tomography (CT scan, including upper-pole renal mass, gastric diverticulum, prominent splenic lobulation, pancreatic mass, hepatic mass, and periadrenal varices. We present a case of a large subhepatic mass that discrimination of its origin from neighborhood organs was difficult preoperatively. Our patient was a 58 years old man, that three months after an unsuccessful operation in another center for a pseudoadrenal mass underwent a very difficult subcapsular tumorectomy in our center.

  10. Congenital Self-Healing Reticulohistiocytosis

    OpenAIRE

    Lee, Young H.; Talekar, Mala K; Chung, Catherine G.; Bell, Moshe D.; Zaenglein, Andrea L

    2014-01-01

    Congenital self-healing reticulohistiocytosis, also known as congenital self-healing Langerhans cell histiocytosis or Hashimoto-Pritzker disease, is a Langerhans cell histiocytosis. It is characterized by skin lesions in the newborn period in an otherwise healthy infant that show a Langerhans cell infiltrate in the skin on histological analysis. These findings subsequently spontaneously involute. This report describes two newborns who presented at birth with differing presentations of congeni...

  11. Congenital bronchoesophageal fistula in adults

    Institute of Scientific and Technical Information of China (English)

    Bao-Shi Zhang; Nai-Kang Zhou; Chang-Hai Yu

    2011-01-01

    AIM: To study the clinical characteristics, diagnosis and surgical treatment of congenital bronchoesophageal fistulae in adults. METHODS: Eleven adult cases of congenital bronchoesophageal fistula diagnosed and treated in our hospital between May 1990 and August 2010 were reviewed. Its clinical presentations, diagnostic methods, anatomic type, treatment, and follow-up were recorded. RESULTS: Of the chief clinical presentations, nonspecific cough and sputum were found in 10 (90.9%), recurrent bouts of cough after drinking liquid food in 6 (54.6%), hemoptysis in 6 (54.6%), low fever in 4 (36.4%), and chest pain in 3 (27.3%) of the 11 cases, respectively. The duration of symptoms before diagnosis ranged 5-36.5 years. The diagnosis of congenital bronchoesophageal fistulae was established in 9 patients by barium esophagography, in 1 patient by esophagoscopy and in 1 patient by bronchoscopy, respectively. The congenital bronchoesophageal fistulae communicated with a segmental bronchus, a main bronchus, and an intermediate bronchus in 8, 2 and 1 patients, respectively. The treatment of congenital bronchoesophageal fistulae involved excision of the fistula in 10 patients or division and suturing in 1 patient. The associated lung lesion was removed in all patients. No long-term sequelae were found during the postoperative follow-up except in 1 patient with bronchial fistula who accepted reoperation before recovery. CONCLUSION: Congenital bronchoesophageal fistula is rare in adults. Its most useful diagnostic method is esophagography. It must be treated surgically as soon as the diagnosis is established.

  12. Congenital and perinatal cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Chun Soo Kim

    2010-01-01

    Full Text Available Cytomegalovirus (CMV is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID, which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS. Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at 72?#608;for 5 seconds can eliminate CMV completely.

  13. Pitfalls of adrenal imaging with chemical shift MRI

    International Nuclear Information System (INIS)

    Chemical shift (CS) MRI of the adrenal glands exploits the different precessional frequencies of fat and water protons to differentiate the intracytoplasmic lipid-containing adrenal adenoma from other adrenal lesions. The purpose of this review is to illustrate both technical and interpretive pitfalls of adrenal imaging with CS MRI and emphasize the importance of adherence to strict technical specifications and errors that may occur when other imaging features and clinical factors are not incorporated into the diagnosis. When performed properly, the specificity of CS MRI for the diagnosis of adrenal adenoma is over 90%. Sampling the in-phase and opposed-phase echoes in the correct order and during the same breath-hold are essential requirements, and using the first echo pair is preferred, if possible. CS MRI characterizes more adrenal adenomas then unenhanced CT but may be non-diagnostic in a proportion of lipid-poor adenomas; CT washout studies may be able to diagnose these lipid-poor adenomas. Other primary and secondary adrenal tumours and supra-renal disease entities may contain lipid or gross fat and mimic adenoma or myelolipoma. Heterogeneity within an adrenal lesion that contains intracytoplasmic lipid could be due to myelolipoma, lipomatous metaplasia of adenoma, or collision tumour. Correlation with previous imaging, other imaging features, clinical history, and laboratory investigations can minimize interpretive errors

  14. Volume of the adrenal and pituitary glands in depression

    DEFF Research Database (Denmark)

    Kessing, Lars Vedel; Willer, Inge Stoel; Knorr, Ulla

    2011-01-01

    Numerous studies have shown that the hypothalamic-pituitary-adrenal (HPA) axis is hyperactive in some depressed patients. It is unclear whether such hyperactivity results in changed volumes of the adrenal glands, pituitary gland and hypothalamus. We systematically reviewed all controlled studies ...

  15. Diagnosis of mediastinal and left adrenal abnormalities with endoscopic ultrasonography

    NARCIS (Netherlands)

    Kramer, H; Groen, HJM

    2005-01-01

    Endoscopic ultrasound with fine-needle aspiration (EUS-FNA) is increasingly used for sampling of mediastinal or left adrenal abnormalities. We report two patients in whom EUS-FNA led to the diagnosis of malignancy. In one patient, left adrenal metastasis of a rectal. adenocarcinoma was diagnosed, wh

  16. Incidence and Cause of Hypertension During Adrenal Radiofrequency Ablation

    Energy Technology Data Exchange (ETDEWEB)

    Yamakado, Koichiro, E-mail: yama@clin.medic.mie-u.ac.jp; Takaki, Haruyuki [Mie University School of Medicine, Department of Interventional Radiology (Japan); Yamada, Tomomi [Mie University School of Medicine, Department of Translational Medicine (Japan); Yamanaka, Takashi; Uraki, Junji; Kashima, Masataka; Nakatsuka, Atsuhiro; Takeda, Kan [Mie University School of Medicine, Department of Interventional Radiology (Japan)

    2012-12-15

    Purpose: To evaluate the incidence and cause of hypertension prospectively during adrenal radiofrequency ablation (RFA). Methods: For this study, approved by our institutional review board, written informed consent was obtained from all patients. Patients who received RFA for adrenal tumors (adrenal ablation) and other abdominal tumors (nonadrenal ablation) were included in this prospective study. Blood pressure was monitored during RFA. Serum adrenal hormone levels including epinephrine, norepinephrine, dopamine, and cortisol levels were measured before and during RFA. The respective incidences of procedural hypertension (systolic blood pressure >200 mmHg) of the two patient groups were compared. Factors correlating with procedural systolic blood pressure were evaluated by regression analysis.ResultsNine patients underwent adrenal RFA and another 9 patients liver (n = 5) and renal (n = 4) RFA. Asymptomatic procedural hypertension that returned to the baseline by injecting calcium blocker was found in 7 (38.9%) of 18 patients. The incidence of procedural hypertension was significantly higher in the adrenal ablation group (66.7%, 6/9) than in the nonadrenal ablation group (11.1%, 1/9, P < 0.0498). Procedural systolic blood pressure was significantly correlated with serum epinephrine (R{sup 2} = 0.68, P < 0.0001) and norepinephrine (R{sup 2} = 0.72, P < 0.0001) levels during RFA. The other adrenal hormones did not show correlation with procedural systolic blood pressure. Conclusion: Hypertension occurs frequently during adrenal RFA because of the release of catecholamine.

  17. Incidence and Cause of Hypertension During Adrenal Radiofrequency Ablation

    International Nuclear Information System (INIS)

    Purpose: To evaluate the incidence and cause of hypertension prospectively during adrenal radiofrequency ablation (RFA). Methods: For this study, approved by our institutional review board, written informed consent was obtained from all patients. Patients who received RFA for adrenal tumors (adrenal ablation) and other abdominal tumors (nonadrenal ablation) were included in this prospective study. Blood pressure was monitored during RFA. Serum adrenal hormone levels including epinephrine, norepinephrine, dopamine, and cortisol levels were measured before and during RFA. The respective incidences of procedural hypertension (systolic blood pressure >200 mmHg) of the two patient groups were compared. Factors correlating with procedural systolic blood pressure were evaluated by regression analysis.ResultsNine patients underwent adrenal RFA and another 9 patients liver (n = 5) and renal (n = 4) RFA. Asymptomatic procedural hypertension that returned to the baseline by injecting calcium blocker was found in 7 (38.9%) of 18 patients. The incidence of procedural hypertension was significantly higher in the adrenal ablation group (66.7%, 6/9) than in the nonadrenal ablation group (11.1%, 1/9, P 2 = 0.68, P 2 = 0.72, P < 0.0001) levels during RFA. The other adrenal hormones did not show correlation with procedural systolic blood pressure. Conclusion: Hypertension occurs frequently during adrenal RFA because of the release of catecholamine.

  18. EXPRESSION OF ENDOGENOUS OUABAIN IN MULTIPLE ADRENAL TUMORS

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Objective To explore expression of endogenous ouabain(EO) in multiple adrenal tumors.Methods Thirty-one cases of adrenal tumors and 6 cases of healthy adrenal tissues were selected. The expression of EO in the adrenal tiss ue was detected with immunohistochemical streptavidin peroxadase conjugated(SP) method.Results Most of EO positive products were localized in cy toplasm of the zona reticularis of human adrenal cortex, and positive products s howed to be fine granular. There was no positive signal in the medulla. EO showe d on diffused positive in patients with pheochromocytoma accompanied high blood pressure[SBP:(165.22±7.61) mmHg, DBP:(105.52±4.26) mmHg], but there were neg ative in ones with normative blood pressure[SBP:(118.52±4.58) mmHg, DBP:(83±3.60) m mHg]. The expression of EO was positive in all adrenocortical hyperplasic, aden oma an d carcinoma, no matter its high or normative blood pressure. The degree of expre ssion of EO in adrenal tissues was related to the level of BP.Conclusion Expression of endogenous ouabain(EO) in health y adrenal tissue and adrenal tumors was a valuable morphological and pathophysio logical clue for the research on ouabain.

  19. Laparoscopically Resected Foregut Cyst Adjacent to the Right Adrenal Gland

    Directory of Open Access Journals (Sweden)

    E. Yamamoto

    1998-01-01

    with the right adrenal gland by lateral transabdominal approach. Laparoscopic surgery for a retroperitoneal tumor is problematic, however, since benignancy cannot be predicted. In laparoscopic adrenalectomy for non-functioning adrenal tumor, therefore, a differential diagnosis from retroperitoneal tumor should be given serious consideration.

  20. Synchronous Bilateral Adrenal Metastases from Papillary Renal Cell Carcinoma

    Directory of Open Access Journals (Sweden)

    Kaan Gokcen

    2014-12-01

    Full Text Available We report a case of synchronous bilateral adrenal metastasis of renal cell carcinoma. The contralateral metastatic adrenal mass was treated by the laparoscopic transperitoneal approach. The renal mass and its huge ipsilateral metastatic adrenal gland were removed en bloc with open procedure. A 54-year-old man presented to our clinic with left-sid renal cell carcinoma synchronously bilateral adrenal metastases. The primary tumor was localized in the upper-mid pole of the kidney. The diagnosis was established preoperatively by computed tomography. The size of the contralateral adrenal mass was 65 x 45 mm, but the ipsilateral metastatic adrenal mass was huge (140 x 65 mm. After all analysis and other scannings for any metastasis, a contralateral lapararoscopic transperitoneal adrenalectomy and a left open nephroadrenalectomy were performed simultaneously. Synchronous bilateral adrenal metastases from primary renal cell carcinoma without another metastasis is very rare. The optimal surgical procedure should be selected according to the metastatic adrenal masses size and the patient%u2019s status.

  1. Entanglement in Classical Optics

    OpenAIRE

    Ghose, Partha; Mukherjee, Anirban

    2013-01-01

    The emerging field of entanglement or nonseparability in classical optics is reviewed, and its similarities with and differences from quantum entanglement clearly pointed out through a recapitulation of Hilbert spaces in general, the special restrictions on Hilbert spaces imposed in quantum mechanics and the role of Hilbert spaces in classical polarization optics. The production of Bell-like states in classical polarization optics is discussed, and new theorems are proved to discriminate betw...

  2. Bidirectional coherent classical communication

    OpenAIRE

    Harrow, Aram W.; Leung, Debbie W.

    2005-01-01

    A unitary interaction coupling two parties enables quantum or classical communication in both the forward and backward directions. Each communication capacity can be thought of as a tradeoff between the achievable rates of specific types of forward and backward communication. Our first result shows that for any bipartite unitary gate, bidirectional coherent classical communication is no more difficult than bidirectional classical communication — they have the same achievable rate regions. ...

  3. Classical, Semi-classical and Quantum Noise

    CERN Document Server

    Poor, H; Scully, Marlan

    2012-01-01

    David Middleton was a towering figure of 20th Century engineering and science and one of the founders of statistical communication theory. During the second World War, the young David Middleton, working with Van Fleck, devised the notion of the matched filter, which is the most basic method used for detecting signals in noise. Over the intervening six decades, the contributions of Middleton have become classics. This collection of essays by leading scientists, engineers and colleagues of David are in his honor and reflect the wide  influence that he has had on many fields. Also included is the introduction by Middleton to his forthcoming book, which gives a wonderful view of the field of communication, its history and his own views on the field that he developed over the past 60 years. Focusing on classical noise modeling and applications, Classical, Semi-Classical and Quantum Noise includes coverage of statistical communication theory, non-stationary noise, molecular footprints, noise suppression, Quantum e...

  4. Teleportation via classical entanglement

    CERN Document Server

    Rafsanjani, Seyed Mohammad Hashemi; Magaña-Loaiza, Omar S; Boyd, Robert W

    2015-01-01

    We present a classical counterpart to quantum teleportation that uses classical entanglement instead of quantum entanglement. In our implementation we take advantage of classical entanglement among three parties: orbital angular momentum (OAM), polarization, and the radial degrees of freedom of a beam of light. We demonstrate the teleportation of arbitrary OAM states, in the subspace spanned by any two OAM states, to the polarization of the same beam. Our letter presents the first classical demonstration of a commonly-perceived--quantum phenomenon that requires entanglement among more than two parties.

  5. Surgical technique: Retroperitoneoscopic approach for adrenal masses in children.

    Science.gov (United States)

    Yankovic, F; Undre, S; Mushtaq, I

    2014-04-01

    Laparoscopic adrenalectomy is considered to be the standard of care for the surgical excision of adrenal masses. The transperitoneal laparoscopic and retroperitoneoscopic approaches are described. Both are safe and as effective as open adrenalectomy, with the added benefit of the minimally invasive approach. It can be utilized for patients requiring surgery for a phaeochromocytoma, adrenal adenoma, adrenal adenocarcinoma, Cushing's syndrome, neuroblastoma, and an incidentaloma. Relative contraindications include previous surgery of the liver or kidney, large tumours (>8-10 cm in diameter) or coagulation disorders. Although the transperitoneal route is used more widely, the retroperitoneal approach provides direct access to the adrenal gland and easy visualization of the adrenal vein. It avoids also colonic mobilization, minimizes the risk of injury to hollow viscera, and the potential risk of adhesion formation. However, the reversed orientation of the kidney and hilum, combined with a significantly smaller working space, may make this approach difficult to master.

  6. Adrenal vein sampling in the diagnosis of aldosteronism

    Directory of Open Access Journals (Sweden)

    Deipolyi AR

    2015-06-01

    Full Text Available Amy R Deipolyi,1 Rahmi Oklu2 1Vascular and Interventional Radiology, NYU Langone Medical Center, New York, NY, USA; 2Interventional Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA Abstract: Primary aldosteronism causes 15%–25% of cases of drug-resistant hypertension. Adrenal vein sampling (AVS is a procedure entailing the measurement of aldosterone from both adrenal veins, to diagnose an adrenal source of excess aldosterone secretion. Because unilateral adrenal etiologies of primary aldosteronism may be surgically resected, identifying these sources by venous sampling is critical. Technical aspects of the procedure are reviewed, with emphasis on strategies to avoid common difficulties during AVS. Keywords: primary aldosteronism, hypertension, venous sampling, adrenal adenoma

  7. Teaching NeuroImages: Characteristic phenotype of Ullrich congenital muscular dystrophy

    OpenAIRE

    Liew, Wendy K. M.; Darras, Basil T.

    2013-01-01

    A 21-year-old woman presented with clinically classic signs of Ullrich congenital muscular dystrophy1 (figure). Genetic testing of collagen VI genes revealed a homozygous mutation c.2329T>C, p.Cys777Arg in the COL6A2 gene, consistent with the clinical diagnosis.

  8. Changes of laminin beta 2 chain expression in congenital muscular dystrophy

    DEFF Research Database (Denmark)

    Cohn, R D; Herrmann, R; Wewer, U M;

    1997-01-01

    We studied the distribution of laminin beta 2 chain in the skeletal muscle basement membrane of 16 patients with congenital muscular dystrophy (CMD) by immunohistochemistry. A dramatic reduction in the laminin beta 2 staining was observed in four patients with classical merosin-negative CMD...

  9. Contrast-enhanced ultrasonography of the normal canine adrenal gland.

    Science.gov (United States)

    Pey, Pascaline; Vignoli, Massimo; Haers, Hendrik; Duchateau, Luc; Rossi, Federica; Saunders, Jimmy H

    2011-01-01

    Contrast-enhanced ultrasonography is useful in differentiating adrenal gland adenomas from nonadenomatous lesions in human patients. The purposes of this study were to evaluate the feasibility and to describe contrast-enhanced ultrasonography of the normal canine adrenal gland. Six healthy female Beagles were injected with an intravenous bolus of a lipid-shelled contrast agent (SonoVue(®) ). The aorta enhanced immediately followed by the renal artery and then the adrenal gland. Adrenal gland enhancement was uniform, centrifugal, and rapid from the medulla to the cortex. When maximum enhancement was reached, a gradual homogeneous decrease in echogenicity of the adrenal gland began and simultaneously enhancement of the phrenicoabdominal vessels was observed. While enhancement kept decreasing in the adrenal parenchyma, the renal vein, caudal vena cava, and phrenicoabdominal vein were characterized by persistent enhancement until the end of the study. A second contrast enhancement was observed, corresponding to the refilling time. Objective measurements were performed storing the images for off-line image analysis using Image J (ImageJ(©) ). The shape of the time-intensity curve reflecting adrenal perfusion was similar in all dogs. Ratios of the values of the cortex and the medulla to the values of the renal artery were characterized by significant differences from initial upslope to the peak allowing differentiation between the cortex and the medulla for both adrenal glands only in this time period. Contrast-enhanced ultrasonography of the adrenal glands is feasible in dogs and the optimal time for adrenal imaging is between 5 and 90 s after injection. PMID:21521396

  10. Giant adrenal cyst - a case report and classification; Cisto gigante da adrenal - relato de caso e classificacao

    Energy Technology Data Exchange (ETDEWEB)

    Pitaki, Sergio Augusto Munhoz; Louveira, Maria Helena [Clinica Radiologica Pitaki, Curitiba, PR (Brazil). Alphasonic; Rorato, Luciana; Antonik, Gustavo; Andrade, Andre Luis Lugnani de; Teixeira, Ana Maria Gonzaga [Faculdade Evangelica de Medicina do Parana (FEMPAR), Curitiba, PR (Brazil)

    1999-12-01

    Cystic lesions of the adrenal gland are relatively rare, but they must be considering in the differential diagnosis of abdominal masses. The authors report a case of a giant adrenal cyst assessed by ultrasonography, computed tomography and magnetic resonance imaging, and outline their features and classification. (author)

  11. Congenital Triangular Alopecia.

    Science.gov (United States)

    Yin Li, Vincent Chum; Yesudian, Paul Devakar

    2015-01-01

    Congenital triangular alopecia (CTA) also known as temporal triangular alopecia is a benign noncicatricial pattern of hair loss. It typically affects the frontotemporal region and rarely involves the temporoparietal or occipital scalp. It is a nonprogressive disorder that presents as a triangular, oval or lancet-shaped patch of alopecia. CTA can manifest at birth or develop later in life. The exact etiology of this condition remains unknown. Rarely, it may be associated with other disorders such as Down's syndrome and phakomatosis pigmentovascularis. The diagnosis is based on its distinct clinical appearance. Histologically, hair follicles are miniaturized and replaced by sparse vellus hair follicles. Tricoscopy using a polarized light handheld dermatoscope can be a useful diagnostic tool. CTA is often asymptomatic and remains unchanged throughout the life. No treatment is required. Surgical intervention with follicular unit hair transplantation can provide a satisfactory cosmetic result. In this paper, we have identified 126 cases of CTA in the published literature cited on PubMed between 1905 and 2015. From the available evidence, 79% of patients with CTA presented with unilateral hair loss, 18.5% with bilateral involvement and rarely, with occipital alopecia (2.5%). There was no gender predilection. These figures are entirely consistent with previously published data. Physicians should remember to consider CTA as a potential diagnosis in any patient presenting with a nonscarring alopecia in order to avoid unnecessary investigations and treatments. PMID:26180448

  12. Congenital pulmonary lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Campisi Corradino

    2006-10-01

    Full Text Available Abstract Congenital pulmonary lymphangiectasia (PL is a rare developmental disorder involving the lung, and characterized by pulmonary subpleural, interlobar, perivascular and peribronchial lymphatic dilatation. The prevalence is unknown. PL presents at birth with severe respiratory distress, tachypnea and cyanosis, with a very high mortality rate at or within a few hours of birth. Most reported cases are sporadic and the etiology is not completely understood. It has been suggested that PL lymphatic channels of the fetal lung do not undergo the normal regression process at 20 weeks of gestation. Secondary PL may be caused by a cardiac lesion. The diagnostic approach includes complete family and obstetric history, conventional radiologic studies, ultrasound and magnetic resonance studies, lymphoscintigraphy, lung functionality tests, lung biopsy, bronchoscopy, and pleural effusion examination. During the prenatal period, all causes leading to hydrops fetalis should be considered in the diagnosis of PL. Fetal ultrasound evaluation plays a key role in the antenatal diagnosis of PL. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated with prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy, present medical problems which are characteristic of chronic lung disease.

  13. Congenital parotid fistula

    Directory of Open Access Journals (Sweden)

    Shiggaon Natasha

    2014-01-01

    Full Text Available Parotid fistula is a cause of great distress and embarrassment to the patient. Parotid fistula is most commonly a post-traumatic situation. Congenital parotid salivary fistulas are unusual entities that can arise from accessory parotid glands or even more infrequently, from normal parotid glands through an aberrant Stensen′s duct. The treatment of fistulous tract is usually surgical and can be successfully excised after making a skin incision along the skin tension line around the fistula opening. This report describes a case of right accessory parotid gland fistula of a 4-year-old boy with discharge of pus from right cheek. Computed tomography (CT fistulography and CT sialography demonstrated fistulous tract arising from accessory parotid gland. Both CT fistulography and CT sialography are very helpful in the diagnosis and surgical planning. In this case, superficial parotidectomy is the treatment of choice. A detailed history, clinical and functional examination, proper salivary gland investigations facilitates in correct diagnosis followed by immediate surgical intervention helps us to restore physical, psychological health of the child patient.

  14. Congenital parotid fistula.

    Science.gov (United States)

    Natasha, Shiggaon

    2014-01-01

    Parotid fistula is a cause of great distress and embarrassment to the patient. Parotid fistula is most commonly a post-traumatic situation. Congenital parotid salivary fistulas are unusual entities that can arise from accessory parotid glands or even more infrequently, from normal parotid glands through an aberrant Stensen's duct. The treatment of fistulous tract is usually surgical and can be successfully excised after making a skin incision along the skin tension line around the fistula opening. This report describes a case of right accessory parotid gland fistula of a 4-year-old boy with discharge of pus from right cheek. Computed tomography (CT) fistulography and CT sialography demonstrated fistulous tract arising from accessory parotid gland. Both CT fistulography and CT sialography are very helpful in the diagnosis and surgical planning. In this case, superficial parotidectomy is the treatment of choice. A detailed history, clinical and functional examination, proper salivary gland investigations facilitates in correct diagnosis followed by immediate surgical intervention helps us to restore physical, psychological health of the child patient. PMID:25231049

  15. Congenital hypothyroidism in neonates

    Directory of Open Access Journals (Sweden)

    Aneela Anjum

    2014-01-01

    Full Text Available Context: Congenital hypothyroidism (CH is one of the most common preventable causes of mental retardation in children and it occurs in approximately 1:2,000-1:4,000 newborns. Aims and Objectives: The aim of this study is to determine the frequency of CH in neonates. Settings and Design: This cross-sectional study was conducted in neonatal units of the Department of Pediatrics Unit-I, King Edward Medical University/Mayo Hospital, Lahore and Lady Willington Hospital Lahore in 6 months (January-June 2011. Materials and Methods: Sample was collected by non-probability purposive sampling. After consent, 550 newborn were registered for the study. Demographic data and relevant history was recorded. After aseptic measures, 2-3 ml venous blood analyzed for thyroid-stimulating hormone (TSH level by immunoradiometric assay. Treatment was started according to the individual merit as per protocol. Statistical Analysis Used: Data was analyzed by SPSS 17 and Chi-square test was applied to find out the association of CH with different variables. Results: The study population consisted of 550 newborns. Among 550 newborns, 4 (0.8% newborns had elevated TSH level. CH had statistically significant association with mother′s hypothyroidism (P value 0.000 and mother′s drug intake during the pregnancy period (P value 0.013. Conclusion: CH is 0.8% in neonates. It has statistically significant association with mother′s hypothyroidism and mother′s drug intake during pregnancy.

  16. Lectures on Classical Integrability

    CERN Document Server

    Torrielli, Alessandro

    2016-01-01

    We review some essential aspects of classically integrable systems. The detailed outline of the lectures consists of: 1. Introduction and motivation, with historical remarks; 2. Liouville theorem and action-angle variables, with examples (harmonic oscillator, Kepler problem); 3. Algebraic tools: Lax pairs, monodromy and transfer matrices, classical r-matrices and exchange relations, non-ultralocal Poisson brackets, with examples (non-linear Schroedinger model, principal chiral field); 4. Features of classical r-matrices: Belavin-Drinfeld theorems, analyticity properties, and lift of the classical structures to quantum groups; 5. Classical inverse scattering method to solve integrable differential equations: soliton solutions, spectral properties and the Gel'fand-Levitan-Marchenko equation, with examples (KdV equation, Sine-Gordon model). Prepared for the Durham Young Researchers Integrability School, organised by the GATIS network. This is part of a collection of lecture notes.

  17. Usefulness of F-18 FDG PET/CT in Adrenal Incidentaloma: Differential Diagnosis of Adrenal Metastasis in Oncologic Patients

    International Nuclear Information System (INIS)

    We have evaluated characteristics of adrenal masses incidentally observed in nonenhanced F-18 FDG PET/CT of the oncologic patients and the diagnostic ability of F-18 FDG PET/CT to differentiate malignant from benign adrenal masses. Between Mar 2005 and Aug 2008, 75 oncologic patients (46 men, 29 women; mean age, 60.8±10.2 years; range, 35-87 years) with 89 adrenal masses incidentally found in PET/CT were enrolled in this study. For quantitative analysis, size (cm), Hounsfield unit (HU), maximum standardized uptake value (SUVmax), SUVratio of all 89 adrenal masses were measured. SUVmax of the adrenal mass divided by SUVliver, which is SUVmax of the segment 8, was defined as SUVratio. The final diagnosis of adrenal masses was based on pathologic confirmation, radiologic evaluation (HU<0 : benign), and clinical decision. Size, HU, SUVmax, and SUVratio were all significantly different between benign and malignant adrenal masses.(P < 0.05) And, SUVratio was the most accurate parameter. A cut-off value of 1.0 for SUVratio provided 90.9% sensitivity and 75.6% specificity. In small adrenal masses (1.5 cm or less), only SUVratio had statistically significant difference between benign and malignant adrenal masses. Similarly a cut-off value of 1.0 for SUVratio provided 80.0% sensitivity and 86.4% specificity. F-18 FDG PET/CT can offer more accurate information with quantitative analysis in differentiating malignant from benign adrenal masses incidentally observed in oncologic patients, compared to nonenhanced CT

  18. Congenital Scoliosis (Mini-review).

    Science.gov (United States)

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found, this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered.

  19. Bilateral Adrenal Incidentalomas: A Rare Presentation of Lung Cancer

    Directory of Open Access Journals (Sweden)

    Halit Diri

    2015-01-01

    Full Text Available Adrenal incidentalomas are found incidentally during a radiologic examination performed for indications other than an adrenal disease, and 15% of them are bilateral adrenal masses. This study describes a 51-year-old male smoker patient admitted with diabetes mellitus. An abdominal ultrasonography performed due to his anemia revealed bilateral adrenal masses. His chest X-ray showed abnormal 10 cm opacity at the right upper lung, and brain, thorax, and abdomen CT scans showed multiple lesions compatible with lung cancer metastases. The pathological examination of the transthoracic lung biopsy specimen was consistent with lung adenocarcinoma. Findings in this patient indicate that, in middle aged patients with bilateral adrenal mass and a history or finding of any malignancy, the first diagnosis which should be considered is adrenal metastasis, and confirming the diagnosis by adrenal biopsy may be useless. Furthermore, screening all smoking patients by chest X-ray or thoracic CT for lung cancer may not be accepted as a routine procedure, but in smokers admitted to a hospital due to signs and symptoms attributed to a pulmonary disease, at least a chest X-ray should be requested.

  20. Dexamethasone-suppression adrenal scintigraphy in hyperandrogenism: concise communication

    International Nuclear Information System (INIS)

    To assess the contribution of adrenal-derived androgens in women with hirsutism, adrenal scintigrams under dexamethasone suppression (DS) were performed on 35 women with increasing facial or body hair and irregular or absent menses. Based upon the DS regimen chosen (8 mg/d for 2 days or 4 md/d for 7 days before the injection of 6β-[131I]iodomethylnorcholesterol), three imaging patterns were identified. The first was the absence of uptake before 3 days (8-mg DS) or before 5 days (4-mg DS) after injection. This imaging pattern was seen in 17 of the 35 patients studied and was considered normal. The second pattern was bilateral uptake earlier than 3 days (8-mg DS regimen) or 5 days (4-mg DS) after injection. This was seen in 13 of the 35 patients and was interpreted as bilateral early visualization. Adrenal-vein catheterization performed on six patients with this pattern showed increased adrenal-vein testosterone. The third pattern, observed in five patients, was unilateral early visualization, which in four cases investigated to date was the result of an adrenocortical adenoma. This study confirms the adrenal cortex as a source of androgens in women with hirsutism and hyperandrogenism and demonstrates that DS adrenal scintigraphy can be utilized to identify those women in whom adrenal-derived androgens contribute to their hyperandrogenism

  1. Dexamethasone-suppression adrenal scintigraphy in hyperandrogenism: concise communication

    Energy Technology Data Exchange (ETDEWEB)

    Gross, M.D.; Freitas, J.E.; Swanson, D.P.; Woodbury, M.C.; Schteingart, D.E.; Beierwaltes, W.H.

    1981-01-01

    To assess the contribution of adrenal-derived androgens in women with hirsutism, adrenal scintigrams under dexamethasone suppression (DS) were performed on 35 women with increasing facial or body hair and irregular or absent menses. Based upon the DS regimen chosen (8 mg/d for 2 days or 4 md/d for 7 days before the injection of 6..beta..-(/sup 131/I)iodomethylnorcholesterol), three imaging patterns were identified. The first was the absence of uptake before 3 days (8-mg DS) or before 5 days (4-mg DS) after injection. This imaging pattern was seen in 17 of the 35 patients studied and was considered normal. The second pattern was bilateral uptake earlier than 3 days (8-mg DS regimen) or 5 days (4-mg DS) after injection. This was seen in 13 of the 35 patients and was interpreted as bilateral early visualization. Adrenal-vein catheterization performed on six patients with this pattern showed increased adrenal-vein testosterone. The third pattern, observed in five patients, was unilateral early visualization, which in four cases investigated to date was the result of an adrenocortical adenoma. This study confirms the adrenal cortex as a source of androgens in women with hirsutism and hyperandrogenism and demonstrates that DS adrenal scintigraphy can be utilized to identify those women in whom adrenal-derived androgens contribute to their hyperandrogenism.

  2. Adrenal gland infection by serotype 5 adenovirus requires coagulation factors.

    Directory of Open Access Journals (Sweden)

    Lucile Tran

    Full Text Available Recombinant, replication-deficient serotype 5 adenovirus infects the liver upon in vivo, systemic injection in rodents. This infection requires the binding of factor X to the capsid of this adenovirus. Another organ, the adrenal gland is also infected upon systemic administration of Ad, however, whether this infection is dependent on the cocksackie adenovirus receptor (CAR or depends on the binding of factor X to the viral capsid remained to be determined. In the present work, we have used a pharmacological agent (warfarin as well as recombinant adenoviruses lacking the binding site of Factor X to elucidate this mechanism in mice. We demonstrate that, as observed in the liver, adenovirus infection of the adrenal glands in vivo requires Factor X. Considering that the level of transduction of the adrenal glands is well-below that of the liver and that capsid-modified adenoviruses are unlikely to selectively infect the adrenal glands, we have used single-photon emission computed tomography (SPECT imaging of gene expression to determine whether local virus administration (direct injection in the kidney could increase gene transfer to the adrenal glands. We demonstrate that direct injection of the virus in the kidney increases gene transfer in the adrenal gland but liver transduction remains important. These observations strongly suggest that serotype 5 adenovirus uses a similar mechanism to infect liver and adrenal gland and that selective transgene expression in the latter is more likely to be achieved through transcriptional targeting.

  3. Genetics Home Reference: congenital dyserythropoietic anemia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions CDA congenital dyserythropoietic anemia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

  4. Genetics Home Reference: giant congenital melanocytic nevus

    Science.gov (United States)

    ... mutation in large congenital melanocytic nevi. J Invest Dermatol. 2014 Apr;134(4):1067-74. doi: 10. ... applied to giant congenital melanocytic nevi. J Invest Dermatol. 2014 Apr;134(4):879-82. doi: 10. ...

  5. Genetic Counseling for Congenital Heart Defects

    Science.gov (United States)

    ... High Blood Pressure Tools & Resources Stroke More Genetic Counseling for Congenital Heart Defects Updated:Oct 26,2015 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...

  6. Paraneoplastic (non-metastatic) adrenal insufficiency preceded the onset of primary lung cancer by 12 weeks.

    Science.gov (United States)

    Shantha, Ghanshyam Palamaner Subash; Kumar, Anita A; Jeyachandran, Vijay; Rajamanickam, Deepan; Bhaskar, Emmanuel; Paniker, Vinod K; Abraham, Georgi

    2009-01-01

    Clinically evident adrenal insufficiency associated with lung cancer is a rare entity. Among reported cases, adrenal insufficiency has occurred with or succeeded the primary lung cancer. Adrenal insufficiency has also been secondary to metastasis to the adrenal gland. The present report concerns a 61-year-old man, a chronic smoker, who presented to us with symptomatic adrenal insufficiency. He had no evidence of lung cancer during this visit. The primary lung cancer was only identified 12 weeks later. Additionally, his adrenals showed no evidence of metastasis. Hence his adrenal insufficiency had been a paraneoplastic manifestation of the lung cancer, and it had also preceded the primary by 12 weeks.

  7. Adrenal pseudomasses due to varices: angiographic-CT-MRI-pathologic correlations

    International Nuclear Information System (INIS)

    Periadrenal and adrenal portosystemic collaterals are a recently reported cause of adrenal pseudotumor on computed tomography (CT). Nine patients with this left adrenal pseudotumor illustrate its typical position and appearance on CT, angiography, CT-angiography, and magnetic resonance imaging (MRI). The anatomic basis for variceal adrenal pseudotumors is the left inferior phrenic vein, which passes immediately anterior to the left adrenal gland and which serves as a collateral pathway from splenic to left renal vein in portal hypertension. Thus, unlike previously described adrenal pseudotumors, these venous collaterals are not anatomically distinguishable from the adrenal gland on CT. Bolus dynamic CT is usually diagnostic, but in equivocal cases, MRI may prove useful

  8. Davidson and classical pragmatism

    Directory of Open Access Journals (Sweden)

    Paula Rossi

    2007-06-01

    Full Text Available In this paper I wish to trace some connections between Donald Davidson's work (1917-2003 and two major representatives of the classical pragmatist movement: Charles S. Peirce (1839-1914 and William James (1842-1910. I will start with a basic characterization of classical pragmatism; then, I shall examine certain conceptions in Peirce's and James' pragmatism, in order to establish affinities with Davidson´s thought. Finally, and bearing in mind the previous con-nections, I will reflect briefly on the relevance –often unrecognized- of classical pragmatist ideas in the context of contemporary philosophi-cal discussions.

  9. Cerebral palsy and congenital malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge;

    2007-01-01

    AIM: To determine the proportion of children with cerebral palsy (CP) who have cerebral and non-cerebral congenital malformations. METHODS: Data from 11 CP registries contributing to the European Cerebral Palsy Database (SCPE), for children born in the period 1976-1996. The malformations were...... classified as recognized syndromes, chromosomal anomalies, cerebral malformations or non-cerebral malformations. Prevalence of malformations was compared to published data on livebirths from a European database of congenital malformations (EUROCAT). RESULTS: Overall 547 out of 4584 children (11.9%) with CP...... were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...

  10. [The congenital afibrinogenemia: case report].

    Science.gov (United States)

    Brahem, Imen; Charfeddine, Bassem; Chraiti, Haythem; Ben Abdallah, Jihene; Ben Othmen, Leila; Neffati, Souhir; Ali Smach, Mohamed; Ltaief, Affef; Ksourri, Monia; Dridi, Hedi; Limem, Khalifa

    2010-01-01

    The deficiency in factor I or fibrinogen is a largely unknown genetic disease. It is a rare condition inherited as an autosomal recessive, whose clinical events are variable, ranging from moderate to minimal bleeding or cataclysmic hemorrhage. We report a case of congenital afibrinogenemia in a 17 years-old patient hospitalized in surgical ICU for hemoperitoneum medium abundance discovered by abdominal ultrasound performed before a picture of abdominopelvic pain lasting for 24 hours. Exploration led to the diagnosis of congenital afibrinogenemia with favorable evolution with a contribution of factor deficient. Through this case we raise the problem of congenital afibrinogenemia in diagnosis and the peculiarities of its management. PMID:20870582

  11. [Cystic lymphangioma of the adrenal gland. Three misleading cases].

    Science.gov (United States)

    Berthet, B; Christophe, M; Siméoni, J; Jean, F; Le Treut, Y P; Bricot, R; Assadourian, R

    1993-01-23

    Three cases of adrenal cystic lymphangioma are reported. In 1 patient the lesion was complicated by intracystic haemorrhage. The remaining 2 patients had a hepatic lesion which was treated in the same surgical operation as the adrenal cyst. Ultrasonography and computerized tomography play a major role in the exploration of these cysts. Their unexpected discovery has become more frequent since these methods have multiplied, and this raises therapeutic problems. The nature of adrenal cysts is determined at histology. In asymptomatic cysts percutaneous needle aspiration can only have an indicative value. PMID:8493206

  12. Early intervention and management of adrenal insufficiency in children.

    LENUS (Irish Health Repository)

    Moloney, Sinéad

    2012-09-01

    The endocrine disorder adrenal insufficiency includes inadequate production of the steroid hormone cortisol. This results in poor physiological responses to illness, trauma or other stressors and risk of adrenal crisis. Management is based on administration of hydrocortisone. It is important to avoid under- or over-treatment and increase the dosage during times of physiological stress. To reduce morbidity, hospital admissions and mortality, the education and empowerment of parents and carers, and prompt intervention when necessary are essential. A steroid therapy card for adrenal insufficiency containing personal information on a patient\\'s condition was developed for use by families and their specialist centres.

  13. Right adrenal abscess -- an unusual complication of acute apendicitis.

    Science.gov (United States)

    Dimofte, Gabriel; Dubei, Liviu; Lozneanu, Lili-Gabriela; Ursulescu, Corina; Grigora Scedil, Mihai

    2004-09-01

    Acute appendicitis represents one of the most frequent abdominal emergencies encountered in everyday surgical practice. Local infectious complications are not unusual and retroperitoneal abscesses after acute retrocaecal appendicitis have been previously described. The authors present the case of a 22-years-young female patient, admitted for a right iliac fossa abscess, secondary to gangrenous appendicitis. A right adrenal mass 35/40 mm was revealed during preoperative ultrasound evaluation, which evolved in an adrenal abscess that spontaneously drained 10 days after appendectomy and retrocecal drainage. Adrenal abscesses are exceptionally rare, with only a few cases being reported in the literature, but none of these after acute appendicitis.

  14. Histologic and Immunohistochemical classification of 41 bovine adrenal gland neoplasms

    DEFF Research Database (Denmark)

    Grossi, Anette Blak; Leifsson, Páll S.; Jensen, Henrik Elvang;

    2013-01-01

    Tumors of the adrenal glands are among the most frequent tumors in cattle; however, few studies have been conducted to describe their characteristics. The aim of this study was to classify 41 bovine adrenal neoplasms from 40 animals based on macroscopic and histologic examination, including....... An immunohistochemistry panel consisting of antibodies against melan A, synaptophysin, and CNPase was considered most useful to classify bovine adrenal tumors. However, the distinction between benign and malignant adrenocortical tumors was based on histologic features as in human medicine....

  15. Intense Adrenal Enhancement: A CT Feature of Cardiogenic Shock

    Energy Technology Data Exchange (ETDEWEB)

    Hrabak-Paar, Maja, E-mail: maja.hrabak.paar@mef.hr [University of Zagreb School of Medicine, Department of Diagnostic and Interventional Radiology, University Hospital Center Zagreb (Croatia)

    2016-02-15

    In this report, images of intense adrenal enhancement in a 79-year-old female patient with right-sided heart failure and severe tricuspid insufficiency are presented. Only two cases of intense adrenal enhancement as a sign of cardiogenic shock were previously reported in the literature. Intense adrenal enhancement could be one of the earliest CT signs of cardiogenic shock. Its presence should be immediately reported to the referring physician as a sign of significant hemodynamic instability warranting early critical-care management.

  16. Intense Adrenal Enhancement: A CT Feature of Cardiogenic Shock.

    Science.gov (United States)

    Hrabak-Paar, Maja

    2016-02-01

    In this report, images of intense adrenal enhancement in a 79-year-old female patient with right-sided heart failure and severe tricuspid insufficiency are presented. Only two cases of intense adrenal enhancement as a sign of cardiogenic shock were previously reported in the literature. Intense adrenal enhancement could be one of the earliest CT signs of cardiogenic shock. Its presence should be immediately reported to the referring physician as a sign of significant hemodynamic instability warranting early critical-care management.

  17. Congenital granular-cell myoblastoma.

    Science.gov (United States)

    Cussen, L J; MacMahon, R A

    1975-04-01

    The clinical and pathologic features of congenital granular-cell myoblastoma in five infant girls are reported. One lesion, treated expectantly, progressively decreased in size and after 3 yr and 9 mo could not be detected, while two lesions which were imcompletely excised did not recur. It is suggested that congenital granular-cell myoblastoma is caused by an intrauterine stimulus, and that this stimulus may possible be production of estrogen by the fetus. Congential granular-cell myoblastoma should be treated expectantly or by limited excision, and has an excellent prognosis. PMID:164527

  18. MRI of congenital urethroperineal fistula

    Energy Technology Data Exchange (ETDEWEB)

    Ghadimi-Mahani, Maryam; Dillman, Jonathan R.; Pai, Deepa; DiPietro, Michael [C. S. Mott Children' s Hospital, Department of Radiology, Section of Pediatric Radiology, University of Michigan Health System, Ann Arbor, MI (United States); Park, John [C. S. Mott Children' s Hospital, Department of Pediatric Urology, University of Michigan Health System, Ann Arbor, MI (United States)

    2010-12-15

    We present the MRI features of a congenital urethroperineal fistula diagnosed in a 12-year-old boy being evaluated after a single urinary tract infection. This diagnosis was initially suggested by voiding cystourethrogram and confirmed by MRI. Imaging revealed an abnormal fluid-filled tract arising from the posterior urethra and tracking to the perineal skin surface that increased in size during micturition. Surgical resection and histopathological evaluation of the abnormal tract confirmed the diagnosis of congenital urethroperineal fistula. MRI played important roles in confirming the diagnosis and assisting surgical planning. (orig.)

  19. Hereditary congenital unilateral deafness : A new disorder?

    NARCIS (Netherlands)

    Dikkers, FG; Verheij, JBGM; van Mechelen, M

    2005-01-01

    Congenital unilateral deafness is a rare disorder. The prevalence rates are unknown. The prevalence of children with severe to profound hearing losses that are congenital (or acquired before the development of speech and language) is 0.5 to 3 per 1,000 live births. Evidently, congenital unilateral d

  20. [Congenital lumbar hernia and bilateral renal agenesis].

    Science.gov (United States)

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

    We report a new case of congenital lumbar hernia. This is first case reported of congenital lumbar hernia and bilateral renal agenesis. We review literature and describe associated malformations reported that would be role out in every case of congenital lumbar hernia.

  1. Paraneoplastic (non-metastatic) adrenal insufficiency preceded the onset of primary lung cancer by 12 weeks

    OpenAIRE

    Shantha, Ghanshyam Palamaner Subash; Kumar, Anita A; Jeyachandran, Vijay; Rajamanickam, Deepan; Bhaskar, Emmanuel; Paniker, Vinod K; Abraham, Georgi

    2009-01-01

    Clinically evident adrenal insufficiency associated with lung cancer is a rare entity. Among reported cases, adrenal insufficiency has occurred with or succeeded the primary lung cancer. Adrenal insufficiency has also been secondary to metastasis to the adrenal gland. The present report concerns a 61-year-old man, a chronic smoker, who presented to us with symptomatic adrenal insufficiency. He had no evidence of lung cancer during this visit. The primary lung cancer was only identified 12 wee...

  2. On Noncommutative Classical Mechanics

    CERN Document Server

    Djemai, A E F

    2003-01-01

    In this work, I investigate the noncommutative Poisson algebra of classical observables corresponding to a proposed general Noncommutative Quantum Mechanics, \\cite{1}. I treat some classical systems with various potentials and some Physical interpretations are given concerning the presence of noncommutativity at large scales (Celeste Mechanics) directly tied to the one present at small scales (Quantum Mechanics) and its possible relation with UV/IR mixing.

  3. Davidson and classical pragmatism

    OpenAIRE

    Paula Rossi

    2007-01-01

    In this paper I wish to trace some connections between Donald Davidson's work (1917-2003) and two major representatives of the classical pragmatist movement: Charles S. Peirce (1839-1914) and William James (1842-1910). I will start with a basic characterization of classical pragmatism; then, I shall examine certain conceptions in Peirce's and James' pragmatism, in order to establish affinities with Davidson´s thought. Finally, and bearing in mind the previous con-nections, I will reflect brie...

  4. Congenital syphilis surveillance

    Directory of Open Access Journals (Sweden)

    Antonella Marangoni

    2011-06-01

    Full Text Available Congenital syphilis (CS is mainly a consequence of the lack of antenatal care and control of sexually transmitted infections.The bedrock of the prevention of CS is syphilis diagnosis by serological screening during pregnancy.Current Italian guidelines suggest that all the pregnant women should be tested in the first trimester. Due to the frequently absence of specific signs of infection at birth, laboratory tests are often the only method for a correct CS diagnosis. The aim of this study was to evaluate the usefulness of Treponema pallidum IgM Western Blot (WB and Polymerase Chain Reaction (PCR on cerebrospinal fluid (CSF as an aid in the diagnosis of CS during a prospective surveillance study carried out at St. Orsola Hospital in Bologna, Italy, from November 2000 through June 2010. All pregnant women during pregnancy and at delivery were screened for syphilis by ARCHITECT® Syphilis TP, Abbott. Positive samples were further analysed by Treponema Pallidum Hemagglutination Test (TPHA and Rapid Plasma Reagin (RPR tests, Radim.An in-house Western Blot (WB was also performed. Infants born to syphilis seropositive mothers were enrolled in a prospective follow up. At birth, tests were performed (including IgM WB. Infants with positive RPR tests at birth born to mothers not adequately treated received also a long bone radiograph as well as a complete CSF analysis, including Veneral Disease Research Laboratori (VDRL (Siemens Healthcare Diagnostics and PCR testing. All seroreactive infants received careful follow up examinations and serological testing at 0, 3, 6, 9, 12 months or until the tests became negative. In this study, positive syphilis serology was noted in 151 pregnant women delivering in our hospital. Fifteen women had never been adequately treated, and 9 out 15 gave birth to infected newborns.All these 9 infants had positive IgM WB results on serum samples. Two babies had characteristic long bone lesions at X-ray examination and 3 were born

  5. A specific binding site recognizing a fragment of angiotensin II in bovine adrenal cortex membranes.

    Science.gov (United States)

    Bernier, S G; Fournier, A; Guillemette, G

    1994-12-12

    We have characterized a specific binding site for angiotensin IV in bovine adrenal cortex membranes. Pseudo-equilibrium studies at 37 degrees C for 2 h have shown that this binding site recognizes angiotensin IV with a high affinity (Kd = 0.24 +/- 0.03 nM). The binding site is saturable and relatively abundant (maximal binding capacity around 0.5 pmol/mg protein). Non-equilibrium kinetic analyses at 37 degrees C revealed a calculated kinetic Kd of 47 pM. The binding site is pharmacologically distinct from the classic angiotensin receptors AT1 or AT2. Competitive binding studies with bovine adrenal cortex membranes demonstrated the following rank order of effectiveness: angiotensin IV (Val-Tyr-Ile-His-Pro-Phe) = angiotensin II-(3-7) (Val-Tyr-Ile-His-Pro) > angiotensin III (Arg-Val-Tyr-Ile-His-Pro-Phe) > or = angiotensin II-(4-7) (Tyr-Ile-His-Pro) > angiotensin II (Asp-Arg-Val-Tyr-Ile-His-Pro-Phe) > angiotensin II-(1-6) (Asp-Arg-Val-Tyr-Ile-His) > angiotensin II-(4-8) (Tyr-Ile-His-Pro-Phe) > > > angiotensin II-(3-6) (Val-Tyr-Ile-His), angiotensin II-(4-6) (Tyr-Ile-His), L-158,809 (5,7-dimethyl-2-ethyl-3-[(2'(1-H-tetrazol-5-yl)[1,1'-biphenyl]-4-y l) methyl]-3-H-imidazo[4,5-beta]pyridine H2O) and PD 123319 (1-[4-(dimethylamino)3-methylphenyl]methyl-5-(diphenylacetyl)4,5,6 ,7- tetrahydro-1H-imidazo[4,5-c]pyridine-6-carboxylic acid). The divalent cations Mg2+ and Ca2+ were shown to diminish the binding of 125I-angiotensioffn IV to bovine adrenal cortex membranes.(ABSTRACT TRUNCATED AT 250 WORDS)

  6. A Retroperitoneal Bronchogenic Cyst Mimicking a Pancreatic or Adrenal Mass

    Directory of Open Access Journals (Sweden)

    Tina Runge

    2013-10-01

    Full Text Available Retroperitoneal location of bronchogenic cysts is extremely rare. Most commonly they are encountered in the posterior mediastinum. Bronchogenic cysts arise from developmental aberrations of the tracheobronchial tree in the early embryologic period. We report a 42-year-old female patient with a retroperitoneal bronchogenic cyst in the left adrenal region. She was admitted to our hospital with epigastric pain and subsequently underwent CT of the abdomen. The examination revealed a mass related to the left adrenal gland. Endocrine tests for adrenal hypersecretion were negative. Because of the uncertain entity, laparoscopic adrenalectomy was performed. Pathological examination revealed a bronchogenic cyst in proximity to an inconspicuous left adrenal gland. Although very rare, bronchogenic cysts should be considered in the differential diagnosis of retroperitoneal cystic lesions and surgical resection pursued for symptom resolution and to establish a definitive histology.

  7. GATA transcription factors in adrenal development and tumors.

    Science.gov (United States)

    Parviainen, Helka; Kiiveri, Sanne; Bielinska, Malgorzata; Rahman, Nafis; Huhtaniemi, Ilpo T; Wilson, David B; Heikinheimo, Markku

    2007-02-01

    Of the six GATA transcription factors, GATA-4 and GATA-6 are expressed in the mouse and human adrenal with distinct developmental profiles. GATA-4 is confined to the fetal cortex, i.e. to the less differentiated proliferating cells, while GATA-6 is expressed both in the fetal and adult adrenal. In vitro, GATA-4 regulates inhibin-alpha and steroidogenic factor-1 implicated in normal adrenal function. GATA-6 probably has roles in the development and differentiation of adrenocortical cells, and in the regulation of steroidogenesis. GATA-4 expression is dramatically upregulated and GATA-6 downregulated in gonadotropin dependent mouse adrenocortical tumors. This is accompanied by the appearance of luteinizing hormone receptor (LHR). In vitro, GATA-4 transactivates LHR promoter, and gonadotropins upregulate GATA-4 levels. Human adrenal tumors occasionally express GATA-4, whereas GATA-6 levels are usually lower than normal.

  8. Development of the adrenal axis in the neonatal rat

    Energy Technology Data Exchange (ETDEWEB)

    Guillet, Ronnie

    1977-01-01

    Plasma corticosterone and ACTH concentrations were determined in neonatal rats 1, 7, 14, and 21 days old, under a variety of experimental conditions, to obtain more information on the postnatal development of the rat hypothalamo-adrenal (HHA) axis. The results indicate that: (1) there is a diminution followed by an increase in responsiveness of the adrenal gland, but the pituitary response to direct hormonal stimulation is unchanged during the first three postnatal weeks; (2) continued stimulation of the adrenal by ACTH or of the central nervous system (CNS) or hypothalamus by corticosterone is necessary during early postnatal development to allow normal maturation of the HHA axis; and (3) feedback inhibition is operative by birth, at least to a moderate degree. Taken together, the studies suggest that both the adrenal and pituitary glands are potentially functional at birth, but that the hypothalamic and CNS mediators of the stress response are not mature until at least the second or third postnatal week. (ERB)

  9. A retroperitoneal bronchogenic cyst mimicking a pancreatic or adrenal mass.

    Science.gov (United States)

    Runge, Tina; Blank, Annika; Schäfer, Stephan C; Candinas, Daniel; Gloor, Beat; Angst, Eliane

    2013-01-01

    Retroperitoneal location of bronchogenic cysts is extremely rare. Most commonly they are encountered in the posterior mediastinum. Bronchogenic cysts arise from developmental aberrations of the tracheobronchial tree in the early embryologic period. We report a 42-year-old female patient with a retroperitoneal bronchogenic cyst in the left adrenal region. She was admitted to our hospital with epigastric pain and subsequently underwent CT of the abdomen. The examination revealed a mass related to the left adrenal gland. Endocrine tests for adrenal hypersecretion were negative. Because of the uncertain entity, laparoscopic adrenalectomy was performed. Pathological examination revealed a bronchogenic cyst in proximity to an inconspicuous left adrenal gland. Although very rare, bronchogenic cysts should be considered in the differential diagnosis of retroperitoneal cystic lesions and surgical resection pursued for symptom resolution and to establish a definitive histology.

  10. Adrenal lymphangioma: clinicopathologic and immunohistochemical characteristics of a rare lesion.

    Science.gov (United States)

    Ellis, Carla L; Banerjee, Priya; Carney, Erin; Sharma, Rajni; Netto, George J

    2011-07-01

    Adrenal lymphangiomas, also known as cystic adrenal lymphangiomas, are rare, benign vascular lesions that usually remain asymptomatic throughout life. Although previously adrenal lymphangioma lesions were primarily found at autopsy, they are currently detected during imaging work-up for unrelated causes and are likely to imitate other adrenocortical or adrenal medullary neoplasms. We aimed to retrospectively review all adrenal lymphangioma cases at our hospital and further document their lymphatic origin by immunohistochemical staining. A search of surgical pathology records (1984-2008) was conducted. All hematoxylin and eosin sections were retrieved from archives and reviewed by 2 pathologists in the study. Clinical information was gathered from electronic medical records. Representative paraffin-embedded sections from each case were selected for immunohistochemical analysis using monoclonal antibodies D2-40 and AE1/AE3. A total of 9 adrenal lymphangioma cases were identified (6 women and 3 men). All 9 patients were adults at time of diagnosis with a mean age of 42 years (range, 28-56 years). There were 7 white patients, 1 African American patient, and 1 Asian patient. The average size of an adrenal lymphangioma lesion was 4.9 cm (range, 2.0-13.5 cm). Adrenal lymphangioma was twice more frequently located on the right side (6 right-sided and 3 left-sided). Clinically, 4 (44%) of the 9 lesions presented with abdominal, flank, or back pain. One lymphangioma was found during work-up for labile hypertension. The remaining 4 lesions (44%) were asymptomatic and incidentally found during imaging studies for unrelated causes. Surgical removal was achieved by total adrenalectomy in 8 of the 9 lesions and by partial adrenalectomy in the remaining case. No evidence of recurrence or development of a contralateral lesion was encountered in any of the patients. Histologically, our adrenal lymphangiomas showed a typical multicystic architecture with dilated spaces lined by

  11. Mielolipoma, una lesión quirúrgica poco frecuente de la glándula adrenal Myelolipoma, an infrequent surgical lesion of the adrenal gland

    Directory of Open Access Journals (Sweden)

    Humberto Álvarez-Pertuz

    2008-03-01

    Full Text Available El mielolipoma es un tumor benigno poco frecuente, compuesto de tejido adiposo maduro y elementos hematopoyéticos diversos, histológicamente similares a la médula ósea normal. Estos tumores se pueden localizar comúnmente en las glándulas adrenales, pero también en sitios extra adrenales. Puede encontrarse como tumor único o múltiple, y es hormonalmente inactivo.¹ El origen del mielolipoma es desconocido y se han propuesto varias teorías. Los mielolipomas muestran una gran variedad de manifestaciones clínicas, tales como: sangrado digestivo, hematuria, dolor abdominal en los flancos, masa abdominal y pérdida de peso, entre otras. La incidencia de estos tumores en autopsias es del 0,08 al 0,2 %, gracias al US, la TAC y la RM, su hallazgo es mas frecuente hoy.² El diagnóstico es generalmente por exclusión, habiéndose descartado otras entidades suprarrenales. Entre los métodos diagnósticos figuran: la TAC, el US y la RM. La resección quirúrgica es el tratamiento de elección, cuando haya sintomatología; de lo contrario, un manejo conservador con controles periódicos del paciente será más que suficiente.³ Se presenta el caso de una paciente de 55 años, hipertensa, obesa y con un trastorno depresivo-ansioso, quien consultó por dolor abdominal, náuseas y vómitos.Myelolipoma is a non functioning benign tumor of the adrenal gland which is formed by hematopoietic and adipose tissue. The tumor was first described by Gierke in 1905, and named by Oberling in 1929. Most series consist of myelolipomas discovered incidentally at autopsy. They are generally located in the adrenal gland, although they can occur in other organs. Endocrine and/or metabolic disorders associated with AML include obesity, Type II Diabetes, congenital adrenal hyperplasia due to 21 or 17 alpha-hydroxylase deficiency, Cushing’s disease, Conn’s syndrome, pheochromocytoma and polycystic ovarian disease. Myelolipomas are asymptomatic, but they may cause

  12. Planispheric multiplanar reformatted CT: a new method for evaluation of paediatric congenital spine abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Menten, Renaud; Saint-Martin, Christine; Clapuyt, Philippe [Saint Luc University Hospital, Department of Paediatric Radiology, Brussels (Belgium); Mousny, Maryline [Saint Luc University Hospital, Department of Paediatric Orthopaedics, Brussels (Belgium)

    2005-06-01

    We describe an original reconstruction method for spine CT performed in four patients with single or multiple congenital spine abnormalities. Conventional radiographic imaging is at the forefront of diagnosis and follow-up of congenital scoliosis, but is frequently difficult to interpret. Three-dimensional CT reconstruction facilitates visualization of complex anatomic structures, but does not give a reliable assessment of failures of segmentation. Mental three-dimensional reconstruction of the information displayed by classical multiplanar reformatted CT remains difficult. Planispheric reformatted imaging allows the visualization of all deformities in a single plane. (orig.)

  13. A case series of two cases of juxta-adrenal schwannoma presenting as adrenal mass lesion and review of the literature

    OpenAIRE

    Shivashankar Damodaran; Griffin Mahimairaj; Kamaraj Velaichamy

    2015-01-01

    Schwannomas are rare tumors in the retroperitoneal location. They can pose a diagnostic dilemma when presenting as an adrenal mass lesion due to their imaging characteristics. We report two cases of juxta-adrenal schwannomas presenting as symptomatic adrenal mass lesions. In both the cases, the clinical examination and functional evaluation was unremarkable and the radiological examination revealed a mixed intense adrenal mass lesion in one case with predominantly hyperintense areas and a ver...

  14. Stage 4S Bilateral Adrenal Neuroblastoma in a Newborn

    Directory of Open Access Journals (Sweden)

    Rahul Gupta

    2014-02-01

    Full Text Available Stage 4S bilateral adrenal neuroblastoma presenting in the neonatal period is extremely rare. A 1-day-old male with 4S bilateral adrenal neuroblastoma complicated by marked hepatomegaly managed by chemotherapy is being reported. The provisional diagnosis of neuroblastoma was made in the fetal life during the last trimester of pregnancy. Cardiomyopathy due to doxorubicin cytotoxicity developed over ensuing years, which is being treated.

  15. Is Adrenal Exhaustion Synonym of Syndrome Burnout at Workplace?

    OpenAIRE

    Pranjić, Nurka; Nuhbegović, Sabina; Brekalo-Lazarević, Sanja; Kurtić, Azra

    2012-01-01

    The objective of this study is the assessment of the association of burnout syndrome with adrenal exhaustion specific symptoms and signs among 116 patients who were exposed to violence or mobbing at workplace and who were treated during 2005 to 2008 in Department of Occupational Pathology and Toxicology Tuzla; to detect symptoms and signs of adrenal exhaustion differences between patients who were exposed to act of violence as acute catastrophic event and patients who were long – term exposed...

  16. Bilateral adrenal masses: a single-centre experience

    Science.gov (United States)

    Bandgar, Tushar; Khare, Shruti; Jadhav, Swati; Lila, Anurag; Goroshi, Manjunath; Kasaliwal, Rajeev; Khadilkar, Kranti; Shah, Nalini S

    2016-01-01

    Background Bilateral adrenal masses may have aetiologies like hyperplasia and infiltrative lesions, besides tumours. Hyperplastic and infiltrative lesions may have coexisting hypocortisolism. Bilateral tumours are likely to have hereditary/syndromic associations. The data on clinical profile of bilateral adrenal masses are limited. Aims To analyse clinical, biochemical and radiological features, and management outcomes in patients with bilateral adrenal masses. Methods Retrospective analysis of 70 patients with bilateral adrenal masses presenting to a single tertiary care endocrine centre from western India (2002–2015). Results The most common aetiology was pheochromocytoma (40%), followed by tuberculosis (27.1%), primary adrenal lymphoma (PAL) (10%), metastases (5.7%), non-functioning adenomas (4.3%), primary bilateral macronodular adrenal hyperplasia (4.3%), and others (8.6%). Age at presentation was less in patients with pheochromocytoma (33 years) and tuberculosis (41 years) compared with PAL (48 years) and metastases (61 years) (PAI) (95%). The presenting symptoms for PAL were AI (57%) and abdominal pain (43%), whereas all cases of metastasis had abdominal pain. Mean size of adrenal masses was the largest in lymphoma (5.5cm) followed by pheochromocytoma (4.8cm), metastasis (4cm) and tuberculosis (2.1cm) (P<0.001). Biochemically, most patients with pheochromocytoma (92.8%) had catecholamine excess. Hypocortisolism was common in tuberculosis (100%) and PAL (71.4%) and absent with metastases (P<0.001). Conclusion In evaluation of bilateral adrenal masses, age at presentation, presenting symptoms, lesion size, and biochemical features are helpful in delineating varied underlying aetiologies. PMID:27037294

  17. Giant Mature Adrenal Cystic Teratoma in an Infant

    OpenAIRE

    Ciftci, Ilhan; Cihan, Tugba; Koksal, Yavuz; Ugras, Serdar; Erol, Cengiz

    2013-01-01

    CONFLICT OF INTEREST: NONE DECLARED Introduction Teratomas are derived from embryonic tissues that are typically found in the gonadal and sacrococcygeal regions of adults and children. Primary teratomas in the retroperitoneum are very rare in infant and primary adrenal teratomas are extremely rare. Early diagnosis and surgical resection are important for effective treatment. Case report We report here the case of a histologically unusual adrenal teratomas detected on computed tomography durin...

  18. Microscopic anatomy of the baboon (Papio hamadryas) adrenal medulla.

    OpenAIRE

    al-Lami, F; Carmichael, S W

    1991-01-01

    Adrenal medullas of 2 baboons perfused with formaldehyde/glutaraldehyde and tannic acid were studied by light and electron microscopy. Tissues were postfixed in OsO4. This procedure allows identification of noradrenaline cells on the basis of a selective reaction of glutaraldehyde with noradrenaline vesicles. As positive control for noradrenaline cells, similarly treated mouse adrenal medullas were also examined. Light microscopic examination of thick sections of baboon medullas did not show ...

  19. Health in adults with congenital heart disease.

    Science.gov (United States)

    Cuypers, Judith A A E; Utens, Elisabeth M W J; Roos-Hesselink, Jolien W

    2016-09-01

    Since the introduction of cardiac surgery, the prospects for children born with a cardiac defect have improved spectacularly. Many reach adulthood and the population of adults with congenital heart disease is increasing and ageing. However, repair of congenital heart disease does not mean cure. Many adults with congenital heart disease encounter late complications. Late morbidity can be related to the congenital heart defect itself, but may also be the consequence of the surgical or medical treatment or longstanding alterations in hemodynamics, neurodevelopment and psychosocial development. This narrative review describes the cardiac and non-cardiac long-term morbidity in the adult population with congenital heart disease. PMID:27451323

  20. Congenital Aortic Stenosis and Aneurysms

    NARCIS (Netherlands)

    D. van der Linde (Denise)

    2013-01-01

    textabstractDue to improvements in pediatric cardio-thoracic surgery, anesthesia and diagnostics over the past decades, the number of adult patients with congenital heart disease (CHD) is growing. This causes an increasing demand in clinical practice for insight in long term outcome in both non-oper

  1. Congenital hypothyroidism missed on screening.

    OpenAIRE

    Grant, G. A.; Carson, D. J.; Reid, M. M.(Department of Physics, University of Warwick, Coventry, UK); Hutchinson, J. M.

    1986-01-01

    Three patients with congenital hypothyroidism missed on routine screening due to normal low thyrotrophin concentrations in the neonatal period presented in later childhood. Clinicians should remain aware of hypothyroidism as a cause of morbidity in early childhood despite a national screening programme.

  2. Congenital Chagas disease: an update

    Directory of Open Access Journals (Sweden)

    Yves Carlier

    2015-05-01

    Full Text Available Congenital infection with Trypanosoma cruzi is a global problem, occurring on average in 5% of children born from chronically infected mothers in endemic areas, with variations depending on the region. This presentation aims to focus on and update epidemiological data, research methods, involved factors, control strategy and possible prevention of congenital infection with T. cruzi. Considering that etiological treatment of the child is always effective if performed before one year of age, the diagnosis of infection in pregnant women and their newborns has to become the standard of care and integrated into the surveillance programs of syphilis and human immunodeficiency virus. In addition to the standard tests, polymerase chain reaction performed on blood of neonates of infected mothers one month after birth might improve the diagnosis of congenital infection. Recent data bring out that its transmission can be prevented through treatment of infected women before they become pregnant. The role of parasite genotypes and host genetic factors in parasite transmission and development of infection in foetuses/neonates has to be more investigated in order to better estimate the risk factors and impact on health of congenital infection with T. cruzi.

  3. Adrenal Mitochondria and Steroidogenesis: From Individual Proteins to Functional Protein Assemblies.

    Science.gov (United States)

    Midzak, Andrew; Papadopoulos, Vassilios

    2016-01-01

    The adrenal cortex is critical for physiological function as the central site of glucocorticoid and mineralocorticoid synthesis. It possesses a great degree of specialized compartmentalization at multiple hierarchical levels, ranging from the tissue down to the molecular levels. In this paper, we discuss this functionalization, beginning with the tissue zonation of the adrenal cortex and how this impacts steroidogenic output. We then discuss the cellular biology of steroidogenesis, placing special emphasis on the mitochondria. Mitochondria are classically known as the "powerhouses of the cell" for their central role in respiratory adenosine triphosphate synthesis, and attention is given to mitochondrial electron transport, in both the context of mitochondrial respiration and mitochondrial steroid metabolism. Building on work demonstrating functional assembly of large protein complexes in respiration, we further review research demonstrating a role for multimeric protein complexes in mitochondrial cholesterol transport, steroidogenesis, and mitochondria-endoplasmic reticulum contact. We aim to highlight with this review the shift in steroidogenic cell biology from a focus on the actions of individual proteins in isolation to the actions of protein assemblies working together to execute cellular functions. PMID:27524977

  4. Imaging presentation of adrenal glands in female pseudohermaphroditism

    Institute of Scientific and Technical Information of China (English)

    WANG Jian; JIANG Tao; HAN Xi-nian; LIU Guang-hua

    2006-01-01

    Objective: To discuss imaging features of the adrenal glands in female pseudohermaphroditism. Methods: 11 cases of female pseudohermaphroditism (8-27 years old) were analyzed retrospectively. Results: In 9 of the 11 patients with female pseudohermaphroditism who did no receive hormone replacement therapy, both internal and external branches of ilateral adrenal glands were found to be thickened, prolonged and twisted, and in 2 of the 9 patients they were found to be macronodularly hyperplasic. In one of the remaining two patients who had received long-term hormone replacement therapy, the adrenal glands were not thickened or twisted, though prolonged; and in the other patient imaging presentation of the adrenal glands was the same as that of those who did not receive hormone replacement therapy, but with co-existence of adrenal myelolipoma. Among the 11 patients agenesis of the uterus and the vagina was found in 4 cases. Conclusion: Female pseudohermaphroditism is a hereditary disease,where hyperplasia of the adrenal glands and agenesis of the uterus and the vagina were secondary. Early detection of these abnormalities by imageology would prove to be helpful in early detection and treatment of the condition.

  5. Neural plasticity occurs in the adrenal medulla of asthmatic rats

    Institute of Scientific and Technical Information of China (English)

    FENG Jun-tao; LI Xiao-zhao; HU Cheng-ping; WANG Jun; NIE Hua-ping

    2010-01-01

    Background Airway symptoms in asthma are related to decrease of epinephrine secretion, which may be ascribed to elevated nerve growth factor (NGF) in the organism.The aim of this study was to monitor the neuroendocrine alteration in the adrenal medulla of asthmatic rats.Methods Sixteen rats were randomly divided into two groups (n=8), control group and asthma group, and the asthmatic rats were sensitized and challenged with ovalbumin (OVA).The levels of NGF, epinephrine and norepinephrine in serum were detected by enzyme linked immunosorbent assay (ELISA), the NGF expression in adrenal medulla was detected by immunohistochemistry, and the changes in the ultrastructure of the adrenal medulla was observed by electron microscopy.Results The NGF expression was increased in asthmatic rats compared with control rats.Compared with control rats,the results indicated that the epinephrine level was decreased in asthmatic rats, but no significant difference was found in norepinephrine levels.We found more ganglion cells in the adrenal medulla of asthmatic rats than in control rats, with NGF immunostaining mainly located in these ganglion cells.Electron microscopic images showed the density of chromaffin granula decreased and there was shrunken nucleolemma in the adrenal medullary cells of asthmatic rats.Conclusion The innervation of the adrenal medulla is changed in asthmatic rats, and it may contribute to the epinephrine decrease in asthma.

  6. Chronic ethanol consumption decreases adrenal responsiveness to adrenocorticotropin (ACTH) stimulation

    International Nuclear Information System (INIS)

    Increased alcohol consumption by adolescents and teenagers has heightened awareness of potential endocrine and developmental alterations. The current study was designed to determine whether chronic ethanol intake alters pituitary and adrenal function in the developing rat. One month old male Sprague Dawley rats were administered 6% ethanol in drinking water. After one month of treatment animals were sacrificed and blood, pituitary and adrenal glands collected. Plasma was assayed for ACTH and corticosterone (CS) by radioimmunossay (RIA). Five anterior pituitary glands per group were challenged with 100 μM corticotropin releasing factor (CRF) for 90 min at 37C under 95% air / 5% CO2. Media were analyzed for either ACTH (pituitary) or CS (adrenal) by RIA. Plasma ACTH and CS were unaffected by ethanol consumption. Pituitary response to CRF was not altered by ethanol. The lack of difference in ACTH release was not due to differences in pituitary content of ACTH. However, chronic ethanol consumption did decrease adrenal responsiveness to ACTH stimulation. In vitro corticosterone production was 1.21 ± 0.14 μg/adrenal in controls and 0.70 ± 0.06 μg/adrenal in ethanol consuming rats

  7. Percutaneous interstitial brachytherapy for adrenal metastasis. Technical report

    International Nuclear Information System (INIS)

    We developed and evaluated the feasibility of a brachytherapy technique as a safe and effective treatment for adrenal metastasis. Adapting a paravertebral insertion technique in radiofrequency ablation of adrenal tumors, we developed an interstitial brachytherapy for adrenal metastasis achievable on an outpatient basis. Under local anesthesia and under X-ray CT guidance, brachytherapy applicator needles were percutaneously inserted into the target. A treatment plan was created to eradicate the tumor while preserving normal organs including the spinal cord and kidney. We applied this interstitial brachytherapy technique to two patients: one who developed adrenal metastasis as the third recurrence of uterine cervical cancer after reirradiation, and one who developed metachronous multiple metastases from malignant melanoma. The whole procedure was completed in 2.5 hours. There were no procedure-related or radiation-related early/late complications. 18F-fluorodeoxyglucose positron emission tomography (FDG PET)-CT images at two and three months after treatment showed absence of FDG uptake, and no recurrence of the adrenal tumor was observed for over seven months until expiration, and for six months until the present, respectively. This interventional interstitial brachytherapy procedure may be useful as a safe and eradicative treatment for adrenal metastasis. (author)

  8. [Adrenal failure caused by primary adrenal non-Hodgkin lymphoma: a case report and review of the literature].

    Science.gov (United States)

    Hernández Marín, B; Díaz Muñoz de la Espada, V M; Alvarez Alvarez, R; Encinas García, S; Khosravi Shahi, P; Pérez Fernández, R; Pérez Manga, G

    2008-03-01

    We report a case of 78-year old man who presented with symptoms of adrenal insufficiency. The computed tomography (CT) scan showed the presence of bilateral adrenal masses. A CT-scan guided needle biopsy revealed diffuse large- B cell lymphoma. The absence of pathological findings in clinical, bone marrow and CT scan examinations supported the diagnosis of primary non-Hodgkin Lymphoma of the adrenal glands. The patient was treated with four cycles of R-CHOP chemotherapy with Rituximab, liposomal Doxorubicin, Cyclophosphamide, Vincristine and Prednisolone. At the end of fourth cycle there was radiological improvement but the chemotherapy was stopped because of IV grade toxicity. He completed treatment with radiotherapy of right adrenal mass. Few days after finishing radiation therapy the patient died due to a disseminated infection. No progressive disease was founded.

  9. Classically-Controlled Quantum Computation

    OpenAIRE

    Perdrix, Simon; Jorrand, Philippe

    2004-01-01

    Quantum computations usually take place under the control of the classical world. We introduce a Classically-controlled Quantum Turing Machine (CQTM) which is a Turing Machine (TM) with a quantum tape for acting on quantum data, and a classical transition function for a formalized classical control. In CQTM, unitary transformations and measurements are allowed. We show that any classical TM is simulated by a CQTM without loss of efficiency. The gap between classical and quantum computations, ...

  10. Acute adrenal insufficiency: an aide-memoire of the critical importance of its recognition and prevention.

    Science.gov (United States)

    Gargya, A; Chua, E; Hetherington, J; Sommer, K; Cooper, M

    2016-03-01

    Adrenal crisis is a life-threatening emergency that causes significant excess mortality in patients with adrenal insufficiency. Delayed recognition by medical staff of an impending adrenal crisis and failure to give timely hydrocortisone therapy within the emergency department continue to be commonly encountered, even in metropolitan teaching hospitals. Within the authors' institutions, several cases of poorly handled adrenal crises have occurred over the last 2 years. Anecdotal accounts from members of the Addison's support group suggest that these issues are common in Australia. This manuscript is a timely reminder for clinical staff on the critical importance of the recognition, treatment and prevention of adrenal crisis. The manuscript: (i) outlines a case and the clinical outcome of sub-optimally managed adrenal crisis, (ii) summarises the clinical features and acute management of adrenal crisis, (iii) provides recommendations on the prevention of adrenal crisis and (iv) provides guidance on the management of 'sick days' in patients with adrenal insufficiency.

  11. Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.

    Science.gov (United States)

    Pavone, Piero; Praticò, Andrea D; Falsaperla, Raffaele; Ruggieri, Martino; Zollino, Marcella; Corsello, Giovanni; Neri, Giovanni

    2015-01-01

    Hypertrichosis is defined as an excessive growth in body hair beyond the normal variation compared with individuals of the same age, race and sex and affecting areas not predominantly androgen-dependent. The term hirsutism is usually referred to patients, mainly women, who show excessive hair growth with male pattern distribution.Hypertrichosis is classified according to age of onset (congenital or acquired), extent of distribution (generalized or circumscribed), site involved, and to whether the disorder is isolated or associated with other anomalies. Congenital hypertrichosis is rare and may be an isolated condition of the skin or a component feature of other disorders. Acquired hypertrichosis is more frequent and is secondary to a variety of causes including drug side effects, metabolic and endocrine disorders, cutaneous auto-inflammatory or infectious diseases, malnutrition and anorexia nervosa, and ovarian and adrenal neoplasms. In most cases, hypertrichosis is not an isolated symptom but is associated with other clinical signs including intellective delay, epilepsy or complex body malformations.A review of congenital generalized hypertrichosis is reported with particular attention given to the disorders where excessive diffuse body hair is a sign indicating the presence of complex malformation syndromes. The clinical course of a patient, previously described, with a 20-year follow-up is reported. PMID:26242548

  12. Elementary classical hydrodynamics

    CERN Document Server

    Chirgwin, B H; Langford, W J; Maxwell, E A; Plumpton, C

    1967-01-01

    Elementary Classical Hydrodynamics deals with the fundamental principles of elementary classical hydrodynamics, with emphasis on the mechanics of inviscid fluids. Topics covered by this book include direct use of the equations of hydrodynamics, potential flows, two-dimensional fluid motion, waves in liquids, and compressible flows. Some general theorems such as Bernoulli's equation are also considered. This book is comprised of six chapters and begins by introducing the reader to the fundamental principles of fluid hydrodynamics, with emphasis on ways of studying the motion of a fluid. Basic c

  13. Classical mechanics with Maxima

    CERN Document Server

    Timberlake, Todd Keene

    2016-01-01

    This book guides undergraduate students in the use of Maxima—a computer algebra system—in solving problems in classical mechanics. It functions well as a supplement to a typical classical mechanics textbook. When it comes to problems that are too difficult to solve by hand, computer algebra systems that can perform symbolic mathematical manipulations are a valuable tool. Maxima is particularly attractive in that it is open-source, multiple-platform software that students can download and install free of charge. Lessons learned and capabilities developed using Maxima are easily transferred to other, proprietary software.

  14. Classical Holographic Codes

    CERN Document Server

    Brehm, Enrico M

    2016-01-01

    In this work, we introduce classical holographic codes. These can be understood as concatenated probabilistic codes and can be represented as networks uniformly covering hyperbolic space. In particular, classical holographic codes can be interpreted as maps from bulk degrees of freedom to boundary degrees of freedom. Interestingly, they are shown to exhibit features similar to those expected from the AdS/CFT correspondence. Among these are a version of the Ryu-Takayanagi formula and intriguing properties regarding bulk reconstruction and boundary representations of bulk operations. We discuss the relation of our findings with expectations from AdS/CFT and, in particular, with recent results from quantum error correction.

  15. Classic Problems of Probability

    CERN Document Server

    Gorroochurn, Prakash

    2012-01-01

    "A great book, one that I will certainly add to my personal library."—Paul J. Nahin, Professor Emeritus of Electrical Engineering, University of New Hampshire Classic Problems of Probability presents a lively account of the most intriguing aspects of statistics. The book features a large collection of more than thirty classic probability problems which have been carefully selected for their interesting history, the way they have shaped the field, and their counterintuitive nature. From Cardano's 1564 Games of Chance to Jacob Bernoulli's 1713 Golden Theorem to Parrondo's 1996 Perplexin

  16. Learning Classical Music Club

    CERN Multimedia

    Learning Classical Music Club

    2010-01-01

    There is a new CERN Club called “Learning Classical Music at CERN”. We are aiming to give classical music lessons for different instruments (see link) for students from 5 to 100 years old. We are now ready to start our activities in the CERN barracks. We are now in the enrollment phase and hope to start lessons very soon ! Club info can be found in the list of CERN Club: http://user.web.cern.ch/user/Communication/SocialLifeActivities/Clubs/Clubs.html Salvatore Buontempo Club President

  17. Vesicle Pools: Lessons from Adrenal Chromaffin Cells

    Directory of Open Access Journals (Sweden)

    David R Stevens

    2011-02-01

    Full Text Available The adrenal chromaffin cell serves as a model system to study fast Ca2+-dependent exocytosis. Membrane capacitance measurements in combination with Ca2+ uncaging offers a temporal resolution in the millisecond range and reveals that catecholamine release occurs in three distinct phases. Release of a readily releasable (RRP and a slowly releasable (SRP pool are followed by sustained release, due to maturation and release of vesicles which were not release-ready at the start of the stimulus. Trains of depolarizations, a more physiological stimulus, induce release from a small immediately releasable pool of vesicles residing adjacent to calcium channels, as well as from the RRP. The SRP is poorly activated by depolarization. A sequential model, in which non-releasable docked vesicles are primed to a slowly releasable state, and then further mature to the readily releasable state, has been proposed. The docked state, dependent on membrane proximity, requires SNAP-25, synaptotagmin and syntaxin. The ablation or modification of SNAP-25 and syntaxin, components of the SNARE complex, as well as of synaptotagmin, the calcium sensor, and modulators such complexins and Snapin alter the properties and/or magnitudes of different phases of release, and in particular can ablate the RRP. These results indicate that the composition of the SNARE complex and its interaction with modulatory molecules drives priming and provides a molecular basis for different pools of releasable vesicles.

  18. Adrenal lesions encountered in current medical practice − a review of their radiological imaging

    Directory of Open Access Journals (Sweden)

    Vanesha Naidu

    2013-11-01

    Full Text Available Modern radiological technology has transformed the way that adrenal lesions are currently investigated. The contemporary radiologist has been catapulted to the forefront in the management of adrenal disease. With the increasing use of cross-sectional imaging, adrenal lesions are being serendipitously discovered in radiological studies undertaken for non-adrenal-related conditions – the so-called adrenal ‘incidentaloma’. This review discusses the imaging modalities available for characterising these lesions, highlighting current concepts and controversies in differentiating benign from malignant pathology. The article also provides a brief overview of the spectrum of adrenal pathology commonly encountered in the adult population.

  19. Strong Coupling and Classicalization

    CERN Document Server

    Dvali, Gia

    2016-01-01

    Classicalization is a phenomenon in which a theory prevents itself from entering into a strong-coupling regime, by redistributing the energy among many weakly-interacting soft quanta. In this way, the scattering process of some initial hard quanta splits into a large number of soft elementary processes. In short, the theory trades the strong coupling for a high-multiplicity of quanta. At very high energies, the outcome of such a scattering experiment is a production of soft states of high occupation number that are approximately classical. It is evident that black hole creation in particle collision at super-Planckian energies is a result of classicalization, but there is no a priory reason why this phenomenon must be limited to gravity. If the hierarchy problem is solved by classicalization, the LHC has a chance of detecting a tower of new resonances. The lowest-lying resonances must appear right at the strong coupling scale in form of short-lived elementary particles. The heavier members of the tower must b...

  20. Nuclear motion is classical

    CERN Document Server

    Frank, Irmgard

    2016-01-01

    The notion from ab-initio molecular dynamics simulations that nuclear motion is best described by classical Newton dynamics instead of the time-dependent Schr{\\"o}dinger equation is substantiated. In principle a single experiment should bring clarity. Caution is however necessary, as temperature dependent effects must be eliminated when trying to determine the existence of a zero-point energy.

  1. Classics in What Sense?

    Science.gov (United States)

    Camic, Charles

    2008-01-01

    They seem the perfect bookends for the social psychologist's collection of "classics" of the field. Two volumes, nearly identical in shape and weight and exactly a century old in 2008--each professing to usher "social psychology" into the world as they both place the hybrid expression square in their titles but then proceed to stake out the field…

  2. Mecanica Clasica (Classical Mechanics)

    CERN Document Server

    Rosu, H C

    1999-01-01

    First Internet undergraduate course on Classical Mechanics in Spanish (Castellano). This is about 80% of the material I covered during the January-June 1999 semester at IFUG in the Mexican city of Leon. English and Romanian versions are in (slow) progress and hopefully will be arXived. For a similar course on Quantum Mechanics, see physics/9808031

  3. Classical galactosaemia revisited

    NARCIS (Netherlands)

    A.M. Bosch

    2006-01-01

    Classical galactosaemia (McKusick 230400) is an: autosomal recessive disorder of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT; EC 2.7.712). Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatospl

  4. The Classical Cake Problem

    Science.gov (United States)

    Nelson, Norman N.; Fisch, Forest N.

    1973-01-01

    Discussed are techniques of presentation and solution of the Classical Cake Problem. A frosted cake with a square base is to be cut into n pieces with the volume of cake and frosting the same for each piece. Needed are minimal geometric concepts and the formula for the volume of a prism. (JP)

  5. Classicism and Romanticism.

    Science.gov (United States)

    Huddleston, Gregory H.

    1993-01-01

    Describes one teacher's methods for introducing to secondary English students the concepts of Classicism and Romanticism in relation to pictures of gardens, architecture, music, and literary works. Outlines how the unit leads to a writing assignment based on collected responses over time. (HB)

  6. Classical and quantum satisfiability

    CERN Document Server

    de Araújo, Anderson; 10.4204/EPTCS.81.6

    2012-01-01

    We present the linear algebraic definition of QSAT and propose a direct logical characterization of such a definition. We then prove that this logical version of QSAT is not an extension of classical satisfiability problem (SAT). This shows that QSAT does not allow a direct comparison between the complexity classes NP and QMA, for which SAT and QSAT are respectively complete.

  7. Mecanica Clasica (Classical Mechanics)

    OpenAIRE

    H. C. Rosu

    1999-01-01

    First Internet graduate course on Classical Mechanics in Spanish (Castellano). This is about 80% of the material I covered during the January-June 1999 semester at IFUG in the Mexican city of Leon. English and Romanian versions are in (slow) progress and hopefully will be arXived. For a similar course on Quantum Mechanics, see physics/9808031

  8. Classical Mechanics Laboratory

    Science.gov (United States)

    Brosing, Juliet W.

    2006-12-01

    At Pacific University we have included a lab with our upper division Classical Mechanics class. We do a combination of physical labs (air resistance, harmonic motion, amusement park physics), Maple labs (software), and projects. Presentation of some of the labs, results and challenges with this course will be included.

  9. Classical Mythology. Fourth Edition.

    Science.gov (United States)

    Morford, Mark P. O.; Lenardon, Robert J.

    Designed for students with little or no background in classical literature, this book introduces the Greek and Roman myths of creation, myths of the gods, Greek sagas and local legends, and presents contemporary theories about the myths. Drawing on Homer, Hesiod, Pindar, Vergil, and others, the book provides many translations and paraphrases of…

  10. Children's Classics. Fifth Edition.

    Science.gov (United States)

    Jordan, Alice M.

    "Children's Classics," a 1947 article by Alice M. Jordan reprinted from "The Horn Book Magazine," examines the dynamics and appeal of some of the most famous books for young readers, including "Alice in Wonderland,""The Wind in the Willows,""Robinson Crusoe," and "Andersen's Fairy Tales." Paul Hein's annotated bibliography, a revision of Jordan's…

  11. Transrectal ultrasonography of the left adrenal gland in healthy horses.

    Science.gov (United States)

    Durie, Inge; Van Loon, Gunther; Vermeire, Simon; De Clercq, Dominique; Vanschandevijl, Katleen; Deprez, Piet

    2010-01-01

    Little information is available on medical imaging of the adrenal glands in horses. We investigated the feasibility of transrectal ultrasonography to characterize the normal equine adrenal gland. Transrectal ultrasonography was performed in 25 healthy horses using a 7.5 MHz linear array probe at a displayed depth of 8 cm. Transrectal ultrasonography of the right adrenal gland was not feasible. For the left adrenal gland, the left kidney, the abdominal aorta, the left renal artery, the left renal vein, and the cranial mesenteric artery were used as landmarks. The size of the left adrenal gland was variable, but it generally appeared as a long, flat structure with a hyperechoic medulla surrounded by a hypoechoic cortex. The most cranial part of the gland could not be delineated appropriately in 11 horses (44%). The mean (+/-SD) thickness of the gland and medulla was 0.66 +/- 0.15cm (n = 25) and 0.28 +/- 0.09 cm (n = 25) near the caudal pole, 0.87 +/- 0.25 cm (n = 14) and 0.40 +/- 0.18 cm (n = 12) near the cranial pole, and 0.89 +/- 0.18 cm (n = 25) and 0.36 +/- 0.13 cm (n = 25) in the middle of the gland, respectively. The mean (+/-SD) length of the entire adrenal gland and of the medulla was 6.22 +/- 0.77 cm (n = 14) and 5.45 +/- 0.71 cm (n = 6), respectively. Transrectal ultrasonography allowed adequate visualization of the left adrenal gland in horses. PMID:20973389

  12. Evidence of adrenal failure in aging Dax1-deficient mice.

    Science.gov (United States)

    Scheys, Joshua O; Heaton, Joanne H; Hammer, Gary D

    2011-09-01

    Dosage-sensitive sex reversal, adrenal hypoplasia congenita (AHC) critical region on the X chromosome, gene 1 (Dax1) is an orphan nuclear receptor essential for development and function of the mammalian adrenal cortex and gonads. DAX1 was cloned as the gene responsible for X-linked AHC, which is characterized by adrenocortical failure necessitating glucocorticoid replacement. Contrary to these human data, young mice with genetic Dax1 knockout (Dax1(-/Y)) exhibit adrenocortical hyperfunction, consistent with the historic description of Dax1 as a transcriptional repressor that inhibits steroidogenic factor 1-dependent steroidogenesis. This paradox of molecular function and two apparently opposite phenotypes associated with Dax1 deficiency in mice and humans is compounded by the recent observations that under certain circumstances, Dax1 can serve as a transcriptional activator of steroidogenic factor 1. The recently revealed role of Dax1 in embryonic stem cell pluripotency, together with the observation that its expression in the adult adrenal is restricted to the subcapsular cortex, where presumptive undifferentiated progenitor cells reside, has led us to reexamine the phenotype of Dax1(-/Y) mice in order to reconcile the conflicting mouse and human data. In this report, we demonstrate that although young Dax1(-/Y) mice have enhanced steroidogenesis and subcapsular adrenocortical proliferation, as these mice age, they exhibit declining adrenal growth, decreasing adrenal steroidogenic capacity, and a reversal of their initial enhanced hormonal sensitivity. Together with a marked adrenal dysplasia in aging mice, these data reveal that both Dax1(-/Y) mice and patients with X-linked AHC exhibit adrenal failure that is consistent with adrenocortical subcapsular progenitor cell depletion and argue for a significant role of Dax1 in maintenance of these cells.

  13. Congenital absence of uterine cervix

    Directory of Open Access Journals (Sweden)

    Selvaraj Ravi Lakshmy

    2016-10-01

    Full Text Available Cervical agenesis or dysgenesis is an extremely rare congenital anomaly. Patients with congenital absence of the cervix present with primary amenorrhea and infertility. Though it poses a diagnostic challenge to the clinician, correct diagnosis prior to surgery is possible with the help of ultrasound. Early diagnosis offers significant advantages in patient care and effective presurgical planning. This case report reviews two cases of cervical agenesis diagnosed with the help of ultrasound and later confirmed with the help of MRI. Ultrasonography is the modality of choice to define the internal genital anatomy and helps us to classify the level of obstruction or aplasia in obstructive uterine anomalies. [Int J Reprod Contracept Obstet Gynecol 2016; 5(10.000: 3634-3636

  14. [Radiological evaluation of congenital tumors].

    Science.gov (United States)

    Aguado del Hoyo, A; Ruiz Martín, Y; Lancharro Zapata, Á; Marín Rodríguez, C; Gordillo Gutiérrez, I

    2015-01-01

    In this article, we consider tumors that are diagnosed during pregnancy or in the first three months of life. This is a heterogeneous group of neoplasms with special biological and epidemiological characteristics that differentiate them from tumors arising in children or adults. In the last two decades, the prenatal detection of congenital tumors has increased due to the generalized use of prenatal sonographic screening. Advances in imaging techniques, especially in fetal magnetic resonance imaging, have enabled improvements in the diagnosis, follow-up, clinical management, and perinatal treatment of these tumors. This image-based review of the most common congenital tumors describes their histologic types, locations, and characteristics on the different imaging techniques used.

  15. Congenital contractural arachnodactyly (Beals syndrome).

    OpenAIRE

    Viljoen, D

    1994-01-01

    Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder akin to, but usually less severe than, Marfan syndrome. The clinical features are marfanoid habitus, arachnodactyly, crumpled ears, camptodactyly of the fingers and adducted thumbs, mild contractures of the elbows, knees, and hips, and mild muscle hypoplasia especially of the calf muscles. Many patients have kyphoscoliosis and mitral valve prolapse and, very occasionally, aortic root dilatation and ectopia lentis h...

  16. Risk factors for congenital hydrocephalus

    DEFF Research Database (Denmark)

    Munch, Tina Noergaard; Rasmussen, Marie-Louise Hee; Wohlfahrt, Jan;

    2014-01-01

    OBJECTIVES: To investigate the associations between isolated congenital hydrocephalus (CHC) and maternal characteristics, maternal medical diseases, and medicine intake during pregnancy as well as birth characteristics of the child in a retrospective, register-based, nationwide cohort study...... aspects and comorbidities associated with maternal use of antidepressants, should be the targets for future research. Potential biological pathways by which antidepressants may cause hydrocephalus remain to be elucidated....

  17. Congenital nystagmus and central hypothyroidism

    OpenAIRE

    Reynaert, Nele; Braat, Elke; de Zegher, Francis

    2015-01-01

    We observed a male newborn with bilateral nystagmus and central hypothyroidism without hypoprolactinemia due to a deletion of chromosome band Xq26.1q26.2, containing FRMD7 and IGSF1. These two loss-of function mutations are known to cause, respectively, congenital nystagmus and the ensemble of central hypothyroidism, hypoprolactinemia and testicular enlargement. These latter two features may not yet be present in early life.

  18. Clinicobacteriological Significance in Congenital Dacryocystitis

    Directory of Open Access Journals (Sweden)

    Bhavna Raina, Sudhir Bhagotra

    2010-10-01

    Full Text Available In the present study, 37 eyes of 30 congenital dacryocystitis patients (7 bilateral were studied, out ofwhich 60% of patients were male and 40% female. Gram positive cocci constituted the major bacterialisolate (56.7% with Streptococcus pneumoniae (27.9% predominating. Most effective antibiotics againstthe commonest organism Streptococcus pneumoniae were Tobramycin and Gentamycin showing 100%effectivity. Staphylococcus albus 17.4% was the most common normal conjunctival commensal isolated.

  19. Congenital PCB poisoning: a reevaluation.

    OpenAIRE

    Miller, R. W.

    1985-01-01

    A review of the literature reveals a need to clarify the pathologic physiology of congenital polychlorinated biphenyl (PCB) poisoning, which is characterized by intrauterine growth retardation, brown staining of the skin and mucous membranes, as in Addison's disease, natal teeth, widely open fontanelles and sagittal suture and apparent overgrowth of the gingiva. The skull abnormalities may represent irregular calcification, with natal teeth appearing because the bone of the mandible is penetr...

  20. Congenital chloridorrhea in Korean infants.

    OpenAIRE

    Lee, Y. D.; Lee, H. J.; Moon, H. R.

    1988-01-01

    The present paper describes two Korean male infants, 1. 16 year old and newly born neonate from two families who were diagnosed and managed for one of very rare inborn errors of metabolism, congenital chloridorrhea (Darrow-Gamble syndrome). The diagnosis was suggested by one of the authors (HRM) from the unusual combination of metabolic alkalosis with severe gastrointestinal disorder presenting with chronic, profuse watery diarrhea in the newborn period in the first patient; and the maternal ...