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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations
Fertility and Sterility, Volume 94, No. 2, Year 2010
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Description
Objective: To confirm the clinical diagnosis of complete androgen insensitivity syndrome (CAIS) by molecular genetic analysis and to determine the prevalence of exon 1 mutations in the androgen receptor (AR) transactivation defects of a large series of CAIS patients. Design: International retrospective study. Setting: University Hospital of Montpellier, Department of Hormonology. Patient(s): 105 patients with normal female external genitalia, bilateral intra-abdominal or inguinal testis, normal breast development, absent or sparse pubic hair, normal or high endogenous testosterone production, hypoplastic or absent wolffian structures, and 46,XY karyotype. Intervention(s): Sequencing of the AR gene. Main Outcome Measure(s): Prevalence of AR exon 1 mutations. Result(s): Over a 10-year period (1997 to 2007), we identified 78 AR gene mutations in 105 patients with CAIS; 21 of them were located in exon 1, and 13 of these were new mutations. We report 13 new mutations in the AR gene. All but one were stop codons, and the last was a splicing abnormality. Conclusion(s): The finding that 27% of the mutations in our cohort were localized in exon 1 versus 15% in previous works justifies the sequencing of this exon in patients with CAIS. © 2010.
Authors & Co-Authors
Philibert, Pascal
France, Montpellier
Hopital Lapeyronie
Audran, Françoise
France, Montpellier
Hopital Lapeyronie
Pienkowski, Catherine
France, Toulouse
Hopital Des Enfants
Morange, Isabelle
France, Marseille
Hopital la Timone
Kohler, Birgit
Germany, Berlin
Charité – Universitätsmedizin Berlin
Flori, Elisabeth
France, Strasbourg
Hopital de Hautepierre
Heinrich, Claudine
Belgium, Brussels
Hospital Universitaire Des Enfants Reine Fabiola
Dacou-Voutetakis, Catherine
Greece, Athens
School of Medicine
Joseph, Marie Geneviève
France, Bordeaux
Groupe Hospitalier Pellegrin
Guedj, A. M.
France, Nimes
Hôpital Universitaire Carémeau
Journel, Hubert
France, Vannes
Service de Pediatrie et Genetique Medicale
Hecart-Bruna, Annie Claude
France, Reims
Chu de Reims
Khotchali, Ines
Tunisia, Monastir
Chu Fattouma-bourguiba
Ten, Svetlana
United States, New York
Maimonides Medical Center
Bouchard, Philippe
France, Paris
Hôpital Saint-antoine
Paris, Françoise
France, Montpellier
Hopital Lapeyronie
France, Montpellier
Centre Hospitalier Universitaire de Montpellier
Sultan, Charles S.
France, Montpellier
Hopital Lapeyronie
France, Montpellier
Centre Hospitalier Universitaire de Montpellier
Statistics
Citations: 38
Authors: 17
Affiliations: 15
Identifiers
Doi:
10.1016/j.fertnstert.2009.03.057
ISSN:
00150282
Research Areas
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Study Design
Randomised Control Trial
Cross Sectional Study
Cohort Study
Participants Gender
Female