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Sex Dev. 2014;8(4):151-5. doi: 10.1159/000363201. Epub 2014 Jun 12.

46,XY disorder of sex development in a sudanese patient caused by a novel mutation in the HSD17B3 gene.

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Al-Neelain Medical Research Centre, Faculty of Medicine, Al-Neelain University, Khartoum, Sudan.


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.

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