Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia

被引：5

作者：

Scaramuzzo, Rosa T. ^{[1
]}

Menabo, Soara ^{[2
]}

Baldazzi, Lilia ^{[2
]}

Moscuzza, Francesca ^{[1
]}

Saba, Alessandro ^{[3
,4
]}

Balsamo, Antonio ^{[2
]}

Boldrini, Antonio ^{[1
,5
]}

Ghirri, Paolo ^{[1
,5
]}

机构：

[1] Azienda Osped Univ Pisana, Neonatol Unit, Pisa, Italy

[2] Univ Bologna, Paediat Endocrinol Unit, Dept Med & Surg Sci, Bologna, Italy

[3] Univ Pisa, Dept Surg Med & Mol Pathol, Pisa, Italy

[4] Univ Pisa, Dept Crit Care Med, Pisa, Italy

[5] Univ Pisa, Dept Clin & Expt Med, Pisa, Italy

来源：

SEXUAL DEVELOPMENT | 2017年 / 11卷 / 02期

关键词：

Congenital adrenal hyperplasia; Female genitalia; HSD3B2; gene; Salt-wasting crisis; DEFICIENCY; GENETICS;

D O I：

10.1159/000456023

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

We report the case of 2 sisters (46, XX) born from consanguineous Moroccan parents. Both sisters had normal female genitalia, but within 2 weeks after birth, they presented with a severe salt-wasting crisis. Hormonal investigations suggested the diagnosis of congenital adrenal hyperplasia, which was confirmed by subsequent molecular analysis to be caused by 3 beta-hydroxysteroid dehydrogenase type 2 deficiency. Here, we discuss the main features like onset, possible complications, genetics, and replacement therapy of this rare disease. (C) 2017 S.Karger AG, Basel

引用

页码：82 / 85

页数：4

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