Phenotypical, Biological, and Molecular Heterogeneity of 5 alpha-Reductase Deficiency: An Extensive International Experience of 55 Patients

Maimoun, Laurent; Philibert, Pascal; Cammas, Benoit; Audran, Francoise; Bouchard, Philippe; Fenichel, Patrick; Cartigny, Maryse; Pienkowski, Catherine; Polak, Michel; Skordis, Nicos; Mazen, Inas; Ocal, Gonul; BERBEROĞLU, MERİH; Reynaud, Rachel; Baumann, Clarisse; Cabrol, Sylvie; Simon, Dominique; Kayemba-Kay's, Kabangu; De Kerdanet, Marc; Kurtz, Francois; Leheup, Bruno; Heinrichs, Claudine; Tenoutasse, Sylvie; Van Vliet, Guy; Grueters, Annette; Eunice, Marumudi; Ammini, Ariachery; Hafez, Mona; Hochberg, Ze'ev; Einaudi, Sylvia; Al Mawlawi, Horia; del Valle Nunez, Cristobal; Servant, Nadege; Lumbroso, Serge; Paris, Francoise; Sultan, Charles

doi:10.1210/jc.2010-1024

Phenotypical, Biological, and Molecular Heterogeneity of 5 alpha-Reductase Deficiency: An Extensive International Experience of 55 Patients

Maimoun L., Philibert P., Cammas B., Audran F., Bouchard P., Fenichel P., ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.96, sa.2, ss.296-307, 2011 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 96 Sayı: 2
Basım Tarihi: 2011
Doi Numarası: 10.1210/jc.2010-1024
Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.296-307
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Ankara Üniversitesi Adresli: Evet

Özet

Context: In 46, XY disorders of sex development, 5 alpha-reductase deficiency is rare and is not usually the first-intention diagnosis in newborn ambiguous genitalia, contrary to partial androgen insensitivity syndrome. Yet the cause of ambiguous genitalia may guide sex assignment, and rapid, precise diagnosis of 5 alpha-reductase deficiency is essential.