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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: An extensive international experience of 55 patients
Journal of Clinical Endocrinology and Metabolism, Volume 96, No. 2, Year 2011
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Description
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 clinical diagnosis, biological investigation, and molecular determination from 55 patients with srd5A2 mutations identified in our laboratory over 20 yr to improve early diagnosis. Setting: The study was performed at Montpellier University Hospital. Patients: We studied a cohort of 55 patients with srd5A2 gene mutations. Main Outcome Measure(s): Genetic analysis of srd5A2 was conducted. Results: Clitoromegaly (49.1%) and microphallus with various degrees of hypospadias (32.7%) were frequent phenotypes. Female external genitalia (7.3%) and isolated micropenis (3.6%) were rare. Seventy-two percent of patients were initially assigned to female gender; five of them (12.5%) switched to male sex in peripuberty. Over 72% of patients were considered for 5α-reductase deficiency diagnosis when the testosterone/dihydrotestosterone cutoff was 10. In 55 patients (with 20 having a history of consanguinity), we identified 33 different mutations. Five have never been reported: p.G32S, p.Y91H, p.G104E, p.F223S, and c.461delT. Homozygous mutations were present in 69.1% of cases, compound heterozygous mutations in 25.5%, and compound heterozygous mutations alone with the V89L polymorphism in 5.4%. Exons 1 and 4 were most affected, with 35.8 and 21.7% mutant alleles per exon, respectively. Conclusions: In the largest cohort to date, we demonstrate a wide spectrum of phenotypes and biological profiles in patients with 5α-reductase deficiency, whatever their geographical or ethnic origins. Copyright © 2011 by The Endocrine Society.
Authors & Co-Authors
Maïmoun, Laurent
France, Montpellier
Hopital Lapeyronie
Philibert, Pascal
France, Montpellier
Hopital Lapeyronie
Cammas, Benoît
France, Montpellier
Hopital Lapeyronie
France, Montpellier
Hopital Arnaud de Villeneuve
Audran, Françoise
France, Montpellier
Hopital Lapeyronie
Bouchard, Philippe
France, Paris
Hôpital Saint-antoine
Fénichel, Patrick
France, Nice
Centre Hospitalier Universitaire de Nice, Hôpital L'archet
Cartigny, Maryse
France, Lille
Chu Lille
Pienkowski, Catherine
France, Toulouse
Hopital Des Enfants
Polak, Michel
France, Paris
Hôpital Necker Enfants Malades
Skordis, Nicos A.
France, Montpellier
Hopital Lapeyronie
Mazen, I. M.
Egypt, Giza
Cairo University
Ocal, Gonul
Turkey, Ankara
Ankara Üniversitesi
Berberoglu, Merih
Turkey, Ankara
Ankara Üniversitesi
Reynaud, Rachel
France, Marseille
Hopital la Timone
Baumann, Clarisse
France, Paris
Hôpital Robert-debré Ap-hp
Cabrol, Sylvie
France, Paris
Hôpital Armand-trousseau
Simon, Dominique
France, Paris
Hôpital Robert-debré Ap-hp
Kayemba-Kay's, Kabangu
France, Poitiers
Centre Hospitalier Universitaire de Poitiers
de Kerdanet, Marc M.
France, Rennes
Centre Hospitalier Universitaire de Rennes
Kurtz, François
France, Saint-avold
Hôpital de Saint-avold
Leheup, Bruno P.
France, Vandoeouvre-les-nancy
Hopital D'enfants Chu Nancy
Heinrichs, Claudine
Belgium, Brussels
Hospital Universitaire Des Enfants Reine Fabiola
Tenoutasse, Sylvie
Belgium, Brussels
Hospital Universitaire Des Enfants Reine Fabiola
van Vliet, Guy
Canada, Montreal
Chu Sainte-justine - le Centre Hospitalier Universitaire Mère-enfant
Grüters, Annette
Germany, Berlin
Charité – Universitätsmedizin Berlin
Eunice, Marumudi
India, New Delhi
All India Institute of Medical Sciences, new Delhi
Ammini, Ariachery C.
India, New Delhi
All India Institute of Medical Sciences, new Delhi
Hafez, Mona Hassan
Egypt, Giza
Cairo University
Hochberg, Ze'Ev
Israel, Haifa
Technion - Israel Institute of Technology
Einaudi, Silvia
Italy, Turin
Ospedale Infantile Regina Margherita
Al Mawlawi, Horia
Saudi Arabia, Riyadh
Riyadh Military Hospital
Del Valle Nuñez, Cristóbal J.
Spain, Sevilla
Hospital Universitario Virgen Del Rocío
Servant, N.
Cyprus, Nicosia
Archbishop Makarios Iii Hospital
Lumbroso, Serge
France, Nimes
Hôpital Universitaire Carémeau
Paris, Françoise
France, Montpellier
Hopital Lapeyronie
France, Montpellier
Hopital Arnaud de Villeneuve
Sultan, Charles S.
France, Montpellier
Hopital Lapeyronie
France, Montpellier
Hopital Arnaud de Villeneuve
Statistics
Citations: 176
Authors: 36
Affiliations: 26
Identifiers
Doi:
10.1210/jc.2010-1024
ISSN:
0021972X
e-ISSN:
0021972X
Research Areas
Genetics And Genomics
Health System And Policy
Study Design
Cohort Study
Participants Gender
Male
Female