A 3-year-old boy with ovotestes: gender reassignment and surgical management.

Autor: Raygorodskaya NY; Department of Pediatric Endocrinology, Saratov Medical University, Saratov, Russian Federation. nraygorodskaya@gmail.com, Chernykh VB, Morozov DA, Olutoye OO, Bolotova NV, Averyanov AP, Maslyakova GN, Shilova NV, Zolotukhina TV
Jazyk: angličtina
Zdroj: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2011; Vol. 24 (7-8), pp. 587-9.
DOI: 10.1515/jpem.2011.244
Abstrakt: Objective: We report a male patient with ovotesticular disorder of sex development (OTDSD), resulting from structurally abnormal Y chromosome.
Case Report: A 3-year-old boy was admitted to the Surgical Pediatric Department for masculinizing reconstruction. He had a clitorophallus, bifid scrotum, perineal hypospadias and bilateral impalpable gonads. Pelvic ultrasound and laparoscopy showed a uterus and two gonads with primary ovarian follicles. Chromosome analysis detected a mos 47,XX,mar/46,XX karyotype. Complex genetic evaluation revealed that the marker was Yp isochromosome. Surgical care included a feminizing genitoplasty and separation of the gonads with total excision of testicular tissue.
Conclusions: The presented case emphasizes the importance of a systematic approach to the investigation and management of the patients with ovotesticular DSD. It also raises the important issue about gender reassignment in intersex individuals in mid-childhood.
Databáze: MEDLINE