Characterization of urinary steroids in adrenal hyperplasia: isolation of metabolites of cortisol, compound S, and desoxycorticosterone from a normotensive patient with adrenogenital syndrome.
نویسندگان
چکیده
Congenital virilizing adrenal hyperplasia miiay present a varied clinical picture. Patients have been described who have only excessive virilization (1); others have an associated Addison-like electrolyte disturbance (2, 3), with hypoglycemia (4), or with hypertension (5-9). Recent studies (1012) indicate that the manifestation of virilism may result from defects in the biosynthesis of cortisol.' The first suggestion regarding the nature of the error was made by Lewis and Wilkins (12), and
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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Congenital adrenal hyperplasia (CAH) is the most important cause of the adrenogenital syndrome in infancy and childhood. It is a classic example of an 'inborn error of metabolism' and represents the clinical expression of a hereditary defect in the biosynthesis of cortisol. Studies on patients with this disorder have enriched our knowledge on the biosynthesis and metabolism of adrenocortical st...
متن کاملThe adrenal cortex in childhood.
Congenital adrenal hyperplasia (CAH) is the most important cause of the adrenogenital syndrome in infancy and childhood. It is a classic example of an 'inborn error of metabolism' and represents the clinical expression of a hereditary defect in the biosynthesis of cortisol. Studies on patients with this disorder have enriched our knowledge on the biosynthesis and metabolism of adrenocortical st...
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عنوان ژورنال:
- The Journal of clinical investigation
دوره 39 شماره
صفحات -
تاریخ انتشار 1960