title: Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia.
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.
authors.affiliation: Neonatology Unit, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy.
authors.forename: Rosa T
authors.initials: RT
authors.lastname: Scaramuzzo
authors.forename: Soara
authors.initials: S
authors.lastname: Menabò
authors.forename: Lilia
authors.initials: L
authors.lastname: Baldazzi
authors.forename: Francesca
authors.initials: F
authors.lastname: Moscuzza
authors.forename: Alessandro
authors.initials: A
authors.lastname: Saba
authors.forename: Antonio
authors.initials: A
authors.lastname: Balsamo
authors.forename: Antonio
authors.initials: A
authors.lastname: Boldrini
authors.forename: Paolo
authors.initials: P
authors.lastname: Ghirri
mesh_terms: D000311:Adrenal Glands / Q000000981:diagnostic imaging / Q000473:pathology; D000312:Adrenal Hyperplasia, Congenital / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D005836:Genitalia, Female / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009018:Morocco; D010375:Pedigree; D035781:Siblings
keywords: Congenital adrenal hyperplasia; Female genitalia; HSD3B2 gene; Salt-wasting crisis