Predominant Sertoli cell deficiency in a 46,XY disorders of sex development patient with a new NR5A1/SF-1 mutation transmitted by his unaffected father

Fertility and Sterility

Volumn 95, Issue 5, 2011, Pages 1788.e5-1788.e9

  Philibert, Pascal ^a,b   Polak, Michel ^c   Colmenares, Ana ^c   Lortat Jacob, Stephen ^c   Audran, Franoise ^a   Poulat, Francis ^b   Sultan, Charles ^a,b,d,e  

^a LAPEYRONIE HOSPITAL   (France)

^b INSTITUTE OF HUMAN GENETICS   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d HÔPITAL ARNAUD DE VILLENEUVE   (France)

^e MONTPELLIER UNIVERSITY HOSPITAL   (France)

Author keywords

M llerian inhibiting substance; NR5A1 SF 1 mutant; Sertoli cell deficiency; sex differentiation; testis

Indexed keywords

FOLLITROPIN; INHIBIN B; LUTEINIZING HORMONE;

ANAMNESIS; ARTICLE; CASE REPORT; CELL FUNCTION; CLINICAL FEATURE; CONCENTRATION (PARAMETERS); COPY NUMBER VARIATION; GENE; GENE MUTATION; GENETIC ANALYSIS; GONADAL DISEASE; GONADAL DYSGENESIS; HUMAN; HYPOSPADIAS; LEYDIG CELL; MALE; MICROPENIS; MOSAICISM; NEWBORN; NR5A1 GENE; PRIORITY JOURNAL; SERTOLI CELL; SERTOLI CELL DEFICIENCY; SEXUAL DEVELOPMENT; SF1 GENE;

EID: 79952987603     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2010.11.035     Document Type: Article

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