Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia.
Sex Dev
; 11(2): 82-85, 2017.
Article
em En
| MEDLINE
| ID: mdl-28190008
ABSTRACT
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 3ß-hydroxysteroid dehydrogenase type 2 deficiency. Here, we discuss the main features like onset, possible complications, genetics, and replacement therapy of this rare disease.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hiperplasia Suprarrenal Congênita
/
Irmãos
/
Genitália Feminina
Limite:
Female
/
Humans
/
Male
/
Newborn
País/Região como assunto:
Africa
Idioma:
En
Revista:
Sex Dev
Assunto da revista:
CIENCIAS DO COMPORTAMENTO
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Itália