Female with 46, XY karyotype.

Abstract

Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare cases of 46, XY DSD, including XY pure gonadal dysgenesis and complete androgen insensitivity syndrome, who underwent a prophylactic gonadectomy.

• Authors: Eun Jung Jung, Do Hwa Im, Yong Hee Park, Jung Mi Byun, Young Nam Kim, Dae Hoon Jeong, Moon Su Sung, Ki Tae Kim, Hyo Jung An, Soo Jin Jung, Kyung Bok Lee
• Journal: Obstetrics & gynecology science (Obstet Gynecol Sci) Vol. 60 Issue 4 Pg. 378-382 (Jul 2017) ISSN: 2287-8572 [Print] Korea (South)
• PMID: 28791271 (Publication Type: Case Reports)