The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency

Hormone Research in Paediatrics

Volumn 74, Issue 4, 2010, Pages 229-240

  George, Minu M ^a   New, Maria I ^b   Ten, Svetlana ^a   Sultan, Charles ^c   Bhangoo, Amrit ^a,d  

^a SUNY DOWNSTATE MEDICAL CENTER   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c UNIV MONTPELLIER   (France)

^d NONE   (United States)

Author keywords

4 Androstenedione; 17 Hydroxysteroid dehydrogenase type 3 deficiency; 46,XY disorder of sex development; Human chorionic gonadotropin; Testosterone

Indexed keywords

ARGININE; TESTOSTERONE 17BETA DEHYDROGENASE; TESTOSTERONE 17BETA DEHYDROGENASE 3; UNCLASSIFIED DRUG;

CHILD; CLINICAL FEATURE; DISEASE COURSE; ENZYME DEFICIENCY; ESTROGEN THERAPY; EXON; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; PATIENT COUNSELING; PHENOTYPE; PLASTIC SURGERY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PSYCHOLOGICAL ASPECT; PUBERTY; SEX ROLE; SHORT SURVEY;

17-HYDROXYSTEROID DEHYDROGENASES; 46, XY DISORDERS OF SEX DEVELOPMENT; FEMALE; FOUNDER EFFECT; GENES, RECESSIVE; HUMANS; MALE; SEX REASSIGNMENT PROCEDURES; VIRILISM;

EID: 77958077933     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000318004     Document Type: Short Survey

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