17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite.
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.
Mains
Lindsay M
LM
Department of Obstetrics and Gynecology, Louisiana State University Health Science Center and Children's Hospital, New Orleans, Louisiana 70112, USA. lmains@lsuhsc.edu
Vakili
Babak
B
Lacassie
Yves
Y
Andersson
Stefan
S
Lindqvist
Annika
A
Rock
John A
JA
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
D004966:Estrogens, Conjugated (USP); D012739:Gonadal Steroid Hormones; D015067:17-Hydroxysteroid Dehydrogenases; C476565:17beta-hydroxysteroid dehydrogenase type 3