title: 46,XY disorder of sex development in a sudanese patient caused by a novel mutation in the HSD17B3 gene.
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.
authors.affiliation: Al-Neelain Medical Research Centre, Faculty of Medicine, Al-Neelain University, Khartoum, Sudan.
authors.forename: Mona
authors.initials: M
authors.lastname: Ellaithi
authors.forename: Ralf
authors.initials: R
authors.lastname: Werner
authors.forename: Felix G
authors.initials: FG
authors.lastname: Riepe
authors.forename: Nils
authors.initials: N
authors.lastname: Krone
authors.forename: Alexandra E
authors.initials: AE
authors.lastname: Kulle
authors.forename: Tayseer
authors.initials: T
authors.lastname: Diab
authors.forename: Alaa K
authors.initials: AK
authors.lastname: Kamel
authors.forename: Wiebke
authors.initials: W
authors.lastname: Arlt
authors.forename: Paul-Martin
authors.initials: PM
authors.lastname: Holterhus
authors.forename: Omyma
authors.initials: O
authors.lastname: Sabir
authors.forename: Olaf
authors.initials: O
authors.lastname: Hiort
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000235:genetics*; D058490:Disorder of Sex Development, 46,XY / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D005260:Female; D006801:Humans; D008297:Male; D017354:Point Mutation; D057829:Gender-Affirming Procedures; D013397:Sudan; D055815:Young Adult
chemical_list: D015067:17-Hydroxysteroid Dehydrogenases; C476565:17beta-hydroxysteroid dehydrogenase type 3