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- Title
Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia.
- Authors
Scaramuzzo, Rosa T.; Menabò, Soara; Baldazzi, Lilia; Moscuzza, Francesca; Saba, alessandro; Balsamo, antonio; Boldrini, antonio; Ghirri, Paolo
- 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.
- Subjects
ADRENOGENITAL syndrome; HORMONE deficiencies; HYDROXYSTEROID dehydrogenases; FEMALE reproductive organ examination; MEDICAL genetics
- Publication
Sexual Development, 2017, Vol 11, Issue 2, p82
- ISSN
1661-5425
- Publication type
Case Study
- DOI
10.1159/000456023