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J Pediatr Endocrinol Metab. 2011;24(7-8):587-9.

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

Author information

  • 1Department of Pediatric Endocrinology, Saratov Medical University, Saratov, Russian Federation. nraygorodskaya@gmail.com

Abstract

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.

PMID:
21932607
[PubMed - indexed for MEDLINE]
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