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- Title
46,XY Disorder of Sex Development in a Sudanese Patient Caused by a Novel Mutation in the HSD17B3 Gene.
- Authors
Ellaithi, Mona; Werner, Ralf; Riepe, Felix G.; Krone, Nils; Kulle, alexandra E.; Diab, Tayseer; Kamel, alaa K.; arlt, Wiebke; Holterhus, Paul-Martin; Sabir, Omyma; Hiort, Olaf
- Abstract
In this study, we present a Sudanese 46,XY patient raised as a female and diagnosed at the age of 20 years with having 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency. She presented with primary amenorrhea, undeveloped breasts and a male pattern of secondary sexual characteristics. Examination of her external genitalia showed type IV genital circumcision. Steroid measurements both in urine and serum pointed to 17β-HSD3 deficiency. A novel homozygous splice-site mutation [c.524 + 2T>A] was detected in intron 7 of the HSD17B3 gene. In this patient, steroid concentration clearly supported both the clinical diagnosis of 17β-HSD3 deficiency and the functional relevance of the mutation. Interestingly, despite of the type IV genital circumcision, the patient expressed her interest in reassigning her sex from female to male. © 2014 S. Karger AG, Basel
- Publication
Sexual Development, 2014, Vol 8, Issue 4, p151
- ISSN
1661-5425
- Publication type
Article
- DOI
10.1159/000363201