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 3β-hydroxysteroid dehydrogenase type 2 deficiency. Here, we discuss the main features like onset, possible complications, genetics, and replacement therapy of this rare disease.

Two Moroccan sisters presenting with a severe salt-wasting form of congenital adrenal hyperplasia but normal female genitalia / Scaramuzzo, Rosa T; Menabò, Soara; Baldazzi, Lilia; Moscuzza, Francesca; Saba, Alessandro; Balsamo, Antonio; Boldrini, Antonio; Ghirri, Paolo. - In: SEXUAL DEVELOPMENT. - ISSN 1661-5425. - STAMPA. - 11:2(2017), pp. 82-85.

Two Moroccan sisters presenting with a severe salt-wasting form of congenital adrenal hyperplasia but normal female genitalia

SABA, ALESSANDRO;BOLDRINI, ANTONIO;GHIRRI, PAOLO
2017

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 3β-hydroxysteroid dehydrogenase type 2 deficiency. Here, we discuss the main features like onset, possible complications, genetics, and replacement therapy of this rare disease.
Scaramuzzo, Rosa T; Menabò, Soara; Baldazzi, Lilia; Moscuzza, Francesca; Saba, Alessandro; Balsamo, Antonio; Boldrini, Antonio; Ghirri, Paolo
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11568/848511
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