title: [Male pseudo-hermaphroditism due to partial 5 alpha-reductase deficiency, a case report].
abstract: Male pseudo hermaphroditism caused by steroid 5 alpha reductase deficiency is a rare autosomal recessive disorder. This enzyme catalyses the conversion of testosterone to dihydrotestosterone (DHT) in genital tissue. The potent androgen DHT is required for full masculinization of the external genitalia hence, masculinization defects of varying degree result from diminished DHT formation. We report a Tunisian patient who was raised as a girl, presented to us at the age of 15, because male phenotype had become predominant at puberty. Endocrinological investigations revealed an in crease in the ratio serum testosterone/DHT = 17. Treatment with dihydrotestosterone and surgical correction, after psychological evaluation permitted the change of gender identity to male.
authors.affiliation: Service de Médecine Interne B E.P.S Charles Nicolle, Tunis.
authors.forename: S
authors.initials: S
authors.lastname: Hédia
authors.forename: S
authors.initials: S
authors.lastname: Mohamed
authors.forename: H A
authors.initials: HA
authors.lastname: Insaf
authors.forename: G
authors.initials: G
authors.lastname: Houda
authors.forename: F
authors.initials: F
authors.lastname: Yamina
authors.forename: K
authors.initials: K
authors.lastname: Myrvat
authors.forename: H
authors.initials: H
authors.lastname: Maria
authors.forename: H
authors.initials: H
authors.lastname: Ali
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency*; D000293:Adolescent; D013196:Dihydrotestosterone / Q000627:therapeutic use; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism / Q000523:psychology / Q000628:therapy; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008297:Male; D010641:Phenotype; D011627:Puberty; D013739:Testosterone / Q000097:blood; D014416:Tunisia
chemical_list: D013196:Dihydrotestosterone; D013739:Testosterone; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase
vernacular_title: Pseudo-hermaphrodisme masculin (PHM) par déficit partiel en 5 alpha-réductase, à propos d'un cas.