Urinary steroids in fifteen cases of congenital virilizing adrenal hyperplasia.

نویسندگان

  • S Mizutani
  • T Kusunoki
  • K Matsumoto
  • T Seki
چکیده

Since it was shown by Wilkins et al. (1950) that high output of urinary 17-ketosteroids in cases of congenital virilizing adrenal hyperplasia was suppressed by administration of glucocorticoids, the syndrome has been considered to be due to a deficiency in the enzymatic processes necessary for biosynthesis of cortisol. The most common type of the cases shows disturbances in changing 17ƒ¿hydroxyprogesterone to its 21-hydroxyderivative. If untreated, most cases excrete increased amounts of 17-ketosteroids and C21-methylsteroids, such as pregnanetriols and 17 ahydroxypregnanolone in the urine. What is far less common is a type called the hypertensive form of congenital adrenal hyper-

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

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...

متن کامل

CONGENITAL ADRENAL HYPERPLASIA IN NORTH•EAST OF IRAN: A REVIEW OF 47 PATIENTS AND THE ROLE OF PARENTAL CONSANGUINITY IN THE OCCURRENCE OF DISEASE

In this study the clinical and epidemiological characteristics of congenital adrenal hyperplasia were evaluated prospectively in 47 patients admitted in Imam Reza Hospital in Mashhad during a 4 year period. 21-hydroxylase deficiency was present in 42 patients (89.3%), the simple virilizing form in 6 and the salt-losing form in 36 of them. 11b hydroxylase deficiency was present in 5 patient...

متن کامل

Characterization of urinary steroids in adrenal hyperplasia: isolation of metabolites of cortisol, compound S, and desoxycorticosterone from a normotensive patient with adrenogenital syndrome.

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...

متن کامل

The Separation and Quantitative Estimation of Pregnane- 3a, l?~r, 20,~triol, Pregnane-3a ,17a, ZOa-trio14 l-one, and other Urinary Acetaldehydogenic Steroids*

The quantitative estimation of urinary 5P-pregnane-3&, 17a, 2Ocr-trio1 has become of interest, since it is frequently excreted in excessive amounts by patients with adrenocortical hyperplasia or adrenal tumors (reviewed (1)). The related 11-ketosteroid, 5&pregnane-Sa!, 17a, 20a-triol-11-one is often of greater biochemical interest since it has been isolated and estimated so far only in the urin...

متن کامل

Growth Pattern of Untreated Boys with Simple Virilizing Congenital Adrenal Hyperplasia Indicates Relative Androgen Insensitivity during the First Six Months of Life

Context: Mild forms of simple virilizing congenital adrenal hyperplasia (CAH) may be missed in newborn screening. In the pre-newborn-screening era, missed diagnosis of simple virilizing CAH was not infrequent in boys. Elevated adrenal androgens lead to accelerated growth and bone maturation. Traditional treatment of CAH consists of the suppression of ACTH through glucocorticoid replacement, in ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:
  • Endocrinologia japonica

دوره 14 2  شماره 

صفحات  -

تاریخ انتشار 1967