Congenital Adrenal Hyperplasia (CAH) and Gitelman Syndrome (GS): Overlapping Symptoms in an Uncommon Association
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...
متن کاملTesticular Adrenal Rest Tumors (TARTS) With Unusual Histological Features in Congenital Adrenal Hyperplasia (CAH)
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...
متن کاملFunctioning adrenal adenoma in association with congenital adrenal hyperplasia.
We report a case of a young hypertensive male who was first seen in 1998 with a right thalamic haemorrhage and uncontrolled hypertension. CT abdomen showed a right adrenal tumour and a hyperplastic left adrenal gland. Laparoscopic adrenalectomy performed followed by histopathological examination confirmed the diagnosis of adrenal adenoma. He subsequently presented to us again a year later with ...
متن کاملIncentive processing in Congenital Adrenal Hyperplasia (CAH): a reward-based antisaccade study.
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...
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ژورنال
عنوان ژورنال: Case Reports in Pediatrics
سال: 2021
ISSN: 2090-6811,2090-6803
DOI: 10.1155/2021/6633541