Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

doi:10.1210/jc.2010-1024

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Article

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

The Journal of clinical endocrinology and metabolism - 1 Feb 2011

Maimoun Laurent, Philibert Pascal, Cammas Benoit, Audran Françoise, Bouchard Philippe, Fenichel Patrick, Cartigny Maryse, Pienkowski Catherine, Polak Michel, Skordis Nicos, Mazen Inas, Ocal Gonul, Berberoglu Merih, Reynaud Rachel, Baumann Clarisse, Cabrol Sylvie, Simon Dominique, Kayemba-Kay's Kabangu, De Kerdanet Marc, Kurtz François, Leheup Bruno, Heinrichs Claudine, Tenoutasse Sylvie, Van Vliet Guy, Grüters Annette, Eunice Marumudi, Ammini Ariachery C, Hafez Mona, Hochberg Ze'ev, Einaudi Sylvia, Al Mawlawi Horia, Nuñez Cristóbal J del Valle, Servant Nadège, Lumbroso Serge, Paris Françoise, Sultan Charles

Abstract excerpt

CONTEXT: In 46,XY disorders of sex development, 5α-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 5α-reductase deficiency is essential. OBJECTIVE: The aim of the study was to describe relevant data for...

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PMID: 21147889
DOI: 10.1210/jc.2010-1024

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