True hermaphrodite, 46,XX/46,XY karyotype with surgical reconstruction of ambiguous genitalia: a case report and literature review
Veskijkul, S.; Jinorose, U.; Kanchanaporn, K.
Journal of the Medical Association of Thailand 75(10): 595-601
1992
ISSN/ISBN: 0125-2208 PMID: 1306197 Document Number: 399958
A 17-year-old phenotypic female with ambiguous genitalia is presented. The patient complained of progressive dysmenorrhea, passing urine and menstrual blood through the same opening since menarche. Pelvic examination revealed and enlarged clitoris with prominent phallus, an enlarged right labio-scrotal fold with palpable gonad and a 3 mm diameter opening of both the urethral meatus and vaginal orifice at the vestibule. Chromosome analysis showed 46,XX/46XY karyotype. Laparotomy via right inguinal incision confirmed true hermaphroditism because of finding a right unilateral ovotestis. Factors leading to delay in presentation are discussed and the need for early diagnosis and management is emphasized. The clinical, cytogenetic features, gonadal histology and management are described and discussed.