Imaging features of poorly controlled congenital adrenal hyperplasia in adults.
نویسندگان
چکیده
Congenital adrenal hyperplasia (CAH) is a genetic autosomal recessive condition most frequently as a result of a mutation in the 21-hydroxylase enzyme gene. Patients with poorly controlled CAH can manifest characteristic imaging findings as a result of adrenocorticotrophic hormone stimulation or the effects of cortisol precursor excess on various target organs. We present a spectrum of imaging findings encountered in adult patients with poorly treated CAH, with an emphasis on radiological features and their clinical relevance.
منابع مشابه
A Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
21-hydroxylase deficiency (21-OHD) caused congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic disorders resulting from mutations in genes involved with cortisol (CO) synthesis in the adrenal glands. Testicular adrenal rest tumors (TARTs) are rarely the presenting symptoms of CAH. Here, we describe a case of simple virilizing CAH with TARTs, in a 15-year-old boy. The p...
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Background & Objective: Congenital Adrenal Hyperplasia(CAH) includes a group of inherited diseases which are caused by enzyme defects in the synthesis of cortisol from cholesterol. It manifests itself in different forms like ambiguous genitalia, adrenal crisis in infants, precocious puberty in children, hirsutism, oligomenorrhea and infertility in adults. Although CAH is one of the most com...
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ورودعنوان ژورنال:
- The British journal of radiology
دوره 88 1053 شماره
صفحات -
تاریخ انتشار 2015