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
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
收藏
页码:82 / 85
页数:4
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