CONGENITAL ADRENAL HYPERPLASIA WITH 11-HYDROXYLASE DEFICIENCY - A CASE REPORT AND CONTRIBUTION TO DIAGNOSIS

被引：9

作者：

BLUNCK, W

BIERICH, JR

机构：

[1] Department of Pediatrics, University Hospital, Hamburg Eppendorf

来源：

ACTA PAEDIATRICA SCANDINAVICA | 1968年 / 57卷 / 02期

关键词：

11‐hydroxylase defect; Congenital adrenal hyperplasia; diagnostic procedures;

D O I：

10.1111/j.1651-2227.1968.tb04670.x

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Case report on a 2 ½‐year‐old Turkish boy with iso‐sexual precocious puberty suffering from congenital adrenal hyperplasia. The parents are first cousins. There was no hypertension. The diagnostic procedures are presented. Values for the main corticosteroids, 17‐ketosteroids and testosterone are reported; a simple determination of the THS‐fraction by thin‐layer‐chromatography on one plate in solvent systems of ascending polarity is shown. A highly elevated excretion of THS up to 8.6 mg/day was found. Copyright © 1968, Wiley Blackwell. All rights reserved

引用

页码：157 / &

共 15 条

[1]

BLUNCK W, IN PRESS

[2]

BLUNCK W, 1967, THESIS HAMBURG

[3] CRITICAL ANALYSIS OF METHODS FOR MEASUREMENT OF PREGNANE-3-ALPHA, 17-ALPHA, 20-ALPHA-TRIOL IN HUMAN URINE [J].