A TEST FOR HETEROCYGOCITY IN CONGENITAL ADRENAL HYPERPLASIA (CAH)
نویسندگان
چکیده
منابع مشابه
Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child
Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...
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Congenital adrenal hyperplasia (CAH) patients with testicular adrenal rest tumors (TARTs) with testicular enlargement present a serious diagnostic challenge. According to the data TARTs are usually benign. They are rare, resulting in paucity in the medical literature regarding their pathological features. We report a case of bilateral synchronous mass-forming TARTs with marked cytological and n...
متن کاملDiagnosis and prevalence of Congenital Adrenal Hyperplasia (CAH) in Austrian children screened or not screened for CAH
Prevalence of Congenital Adrenal Hyperplasia (CAH) is not exactly known in the Austria; a number of patients with CAH might not be diagnosed, especially males. CAH is in about 95 % of the cases due to a defect in the 21hydroxylation (‘classical CAH’). Newborn screening for CAH, based on the measurement of 17a-hydroxyprogesterone (17-OHP) was shown to be efficient for diagnosis, and is part of t...
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Little is known about how steroid hormones contribute to the beneficial effect of incentives on cognitive control during adolescent development. In this study, 27 adolescents with Congenital Adrenal Hyperplasia (CAH, mean age 15.6 years, 12 female), a disorder of cortisol deficiency and androgen excess, and 36 healthy participants (mean age 16.3 years, 18 female) completed a reward-based antisa...
متن کاملIncreased salt appetite in patients with CAH - 21 - OH deficiency ( congenital adrenal hyperplasia
Salt appetite was investigated in 14 patients with congenital adrenal hyperplasia (CAH) of the salt-wasting form (SW), 12 with the simple virilized form that are not salt-losing, and 18 healthy siblings. Salt appetite was evaluated by questionnaire, preference tests, and dietary analyses. The findings showed that SW who were not therapeutically normalized, showed increased salt appetite, but no...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1975
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197508000-00084