46,XY Disorder of sex development in a sudanese patient caused by a novel mutation in the HSD17B3 Gene

Mona Ellaithi, Ralf Werner, Felix G. Riepe, Nils Krone, Alexandra E. Kulle, Tayseer Diab, Alaa K. Kamel, Wiebke Arlt, Paul Martin Holterhus, Omyma Sabir, Olaf Hiort

6 Citations (Scopus)

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.

Original languageEnglish
JournalSexual Development
Volume8
Issue number4
Pages (from-to)151-155
Number of pages5
ISSN1661-5425
DOIs
Publication statusPublished - 08.2014

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