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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
Author(s) -
Dutta D.,
Shivaprasad K. S.,
Das R. N.,
Ghosh S.,
Chatterjee U.,
Chowdhury S.,
Dasgupta R.
Publication year - 2014
Publication title -
andrologia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.633
H-Index - 59
eISSN - 1439-0272
pISSN - 0303-4569
DOI - 10.1111/and.12048
Subject(s) - gonadal dysgenesis , presentation (obstetrics) , dysgenesis , term (time) , phenotype , disorders of sex development , pediatrics , medicine , genetics , biology , obstetrics , physics , gene , quantum mechanics
Summary 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.