title: Ovotesticular disorder of sexual development due to 47,XYY/46,XY/45,X mixed gonadal dysgenesis in a phenotypic male presenting as cyclical haematuria: clinical presentation and assessment of long-term outcomes.
abstract: Ovotesticular disorder of sexual differentiation (OTDSD) is a rare cause of disorder of sexual differentiation predominantly having 46,XX karyotype, female phenotype and ambiguous genitalia. We report a 15-year-old having male body habitus, axillary and pubic hair, well-developed penis and right-descended testis with history of penoscrotal hypospadias correction, presenting with three episodes of cyclical haematuria, who biochemically had normal serum testosterone (338 ng dl(-1) ) which increased following hCG stimulation (614 ng dl(-1) ), elevated estradiol (17.35 pg ml(-1) ) along with elevated luteinising hormone (11.3 mIU l(-1) ) and follicle-stimulating hormone (31 mIU l(-1) ). Ultrasonography followed by micturating cystourethrogram and cystoscopy confirmed the presence of prostate, uterus, cervix and vagina draining into the urogenital sinus continuing till the penile urethra and left intra-abdominal gonad. Patient underwent hysterectomy and left gonadectomy. Histopathologic study of resected gonad confirmed presence of ovotestis. Low estradiol (1.2 pg ml(-1) ) following gonadectomy confirmed the ovotestis origin of estradiol. Chromosomal analysis revealed complex karyotype predominant being 47,XYY (50%) followed by 46,XY (26%) and 45,X (24%). This is perhaps the first report of 47,XYY/46,XY/45,X causing OTDSD in a phenotypic male.
authors.affiliation: Department of Endocrinology & Metabolism, IPGMER & SSKM Hospital, Kolkata, India.
authors.forename: D
authors.initials: D
authors.lastname: Dutta
authors.forename: K S
authors.initials: KS
authors.lastname: Shivaprasad
authors.forename: R N
authors.initials: RN
authors.lastname: Das
authors.forename: S
authors.initials: S
authors.lastname: Ghosh
authors.forename: U
authors.initials: U
authors.lastname: Chatterjee
authors.forename: S
authors.initials: S
authors.lastname: Chowdhury
authors.forename: R
authors.initials: R
authors.lastname: Dasgupta
mesh_terms: D000293:Adolescent; D006063:Chorionic Gonadotropin; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006060:Gonadal Dysgenesis, Mixed / Q000175:diagnosis* / Q000473:pathology; D006417:Hematuria / Q000175:diagnosis*; D006801:Humans; D059785:Karyotype; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D050090:Ovotesticular Disorders of Sex Development / Q000175:diagnosis* / Q000473:pathology; D013737:Testis / Q000473:pathology; D013739:Testosterone / Q000097:blood
chemical_list: D006063:Chorionic Gonadotropin; D013739:Testosterone; D004958:Estradiol; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone