title: 17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite.
abstract: OBJECTIVE
  To present the clinical, biochemical, and genetic features of a male pseudohermaphrodite whose condition was caused by 17beta-hydroxysteroid dehydrogenase 3 (17beta-HSD3) deficiency.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Gynecology practice in a university teaching hospital.
  
  
  METHODS
  A 15-year-old black American male pseudohermaphrodite with 17beta-HSD3 deficiency.
  
  
  METHODS
  Laboratory evaluation, genetic mutation analysis, bilateral gonadectomy, and hormone replacement.
  
  
  METHODS
  Endocrinologic evaluation and genetic analysis.
  
  
  RESULTS
  A diagnosis of 17beta-HSD3 deficiency made on the basis of hormone evaluation was confirmed through genetic mutation analysis of the HSD17B3 gene. Female phenotype was attained after gonadectomy, passive vaginal dilatation, and hormone therapy.
  
  
  CONCLUSIONS
  Deficiency of 17beta-HSD3 was diagnosed in this patient on the basis of endocrinologic evaluation and was confirmed with genetic mutation analysis. The patient was able to retain her female sexual identity after surgical and medical treatment.
authors.affiliation: Department of Obstetrics and Gynecology, Louisiana State University Health Science Center and Children's Hospital, New Orleans, Louisiana 70112, USA. lmains@lsuhsc.edu
authors.forename: Lindsay M
authors.initials: LM
authors.lastname: Mains
authors.forename: Babak
authors.initials: B
authors.lastname: Vakili
authors.forename: Yves
authors.initials: Y
authors.lastname: Lacassie
authors.forename: Stefan
authors.initials: S
authors.lastname: Andersson
authors.forename: Annika
authors.initials: A
authors.lastname: Lindqvist
authors.forename: John A
authors.initials: JA
authors.lastname: Rock
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D000293:Adolescent; D004252:DNA Mutational Analysis; D004106:Dilatation / Q000379:methods; D012734:Disorders of Sex Development / Q000188:drug therapy / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology / Q000601:surgery; D015914:Estrogen Replacement Therapy; D004966:Estrogens, Conjugated (USP) / Q000627:therapeutic use; D005260:Female; D005838:Genotype; D012739:Gonadal Steroid Hormones / Q000097:blood; D006801:Humans; D009154:Mutation; D009919:Orchiectomy; D010641:Phenotype; D046468:Sexual Development; D016896:Treatment Outcome
chemical_list: D004966:Estrogens, Conjugated (USP); D012739:Gonadal Steroid Hormones; D015067:17-Hydroxysteroid Dehydrogenases; C476565:17beta-hydroxysteroid dehydrogenase type 3