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

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 2, 2011, Pages 296-307

  Maimoun, Laurent ^a   Philibert, Pascal ^a   Cammas, Benoit ^a,b   Audran, Françoise ^a   Bouchard, Philippe ^c   Fenichel, Patrick ^d   Cartigny, Maryse ^e   Pienkowski, Catherine ^f   Polak, Michel ^g   Skordis, Nicos ^a   Mazen, Inas ⁱ   Ocal, Gonul ^j   Berberoglu, Merih ^j   Reynaud, Rachel ^k   Baumann, Clarisse ^l   Cabrol, Sylvie ^m   Simon, Dominique ^l   Kayemba Kay's, Kabangu ⁿ   De Kerdanet, Marc ^o   Kurtz, François ^p   Leheup, Bruno ^q   Heinrichs, Claudine ^r   Tenoutasse, Sylvie ^r   Van Vliet, Guy ^s   Grüters, Annette ^t   Eunice, Marumudi ^u   Ammini, Ariachery C ^u   Hafez, Mona ⁱ   Hochberg, Ze'ev ^v   Einaudi, Sylvia ^w   Al Mawlawi, Horia ^x   Del Valle Nuñez, Cristóbal J ^y   Servant, Nadège ^h   Lumbroso, Serge ^z   Paris, Françoise ^a,b   Sultan, Charles ^a,b   more..

^a LAPEYRONIE HOSPITAL   (France)

^b HÔPITAL ARNAUD DE VILLENEUVE   (France)

^c HÔPITAL SAINT ANTOINE   (France)

^d CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f HÔPITAL DES ENFANTS   (France)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

^h Archbishop Makarios III Hospital   (Cyprus)

ⁱ CAIRO UNIVERSITY   (Egypt)

^j ANKARA UNIVERSITY   (Turkey)

^k TIMONE HOSPITAL   (France)

^l HÔPITAL ROBERT DEBRÉ   (France)

^m ARMAND TROUSSEAU HOSPITAL   (France)

ⁿ POITIERS UNIVERSITY HOSPITAL   (France)

^o RENNES UNIVERSITY HOSPITAL   (France)

^p Saint Avold Hospital   (France)

^q HÔPITAL D ENFANTS   (France)

^r HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^s UNIVERSITY OF MONTREAL   (Canada)

^t CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^u ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^v TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^w REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

^x Prince Sultan Military Medical City   (Saudi Arabia)

^y HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^z DEPARTMENT OF NEUROLOGY   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANDROSTANOLONE; STEROID 5ALPHA REDUCTASE; TESTOSTERONE;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CLITORIS HYPERTROPHY; CONSANGUINITY; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; ENZYME DEFICIENCY; ENZYME POLYMORPHISM; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENITAL MALFORMATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPOSPADIAS; INFANT; LABORATORY DIAGNOSIS; MAJOR CLINICAL STUDY; MALE; MICROPENIS; MOLECULAR DIAGNOSIS; PHENOTYPE; PREPUBERTY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; STEROID 5ALPHA REDUCTASE DEFICIENCY; UNIVERSITY HOSPITAL;

EID: 79951711611     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-1024     Document Type: Article

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