Primary Amenorrhea in a Woman with 45, XO/46, XX/47, XXX Mosaicism A Case Report.

Jeon, Ji Hye; Lee, Myong Seon; Kim, Jeong Dae; Lee, Do Geun; Jee, Hong Lyon; Kim, Jung Geun

Case Report

Korean Journal of Obstetrics & Gynecology 1997;40(2):446-450.
Published online January 1, 2001.

Primary Amenorrhea in a Woman with 45, XO/46, XX/47, XXX Mosaicism A Case Report.

Ji Hye Jeon, Myong Seon Lee, Jeong Dae Kim, Do Geun Lee, Hong Lyon Jee, Jung Geun Kim

Department of Obstetrics and Gynecology, Pusan Adventist Hospital, Pusan, Korea.

Abstract

There are many variant forms in Turner's syndrome which is characterized by female phenotype, short height, primary amenorrhea, infertility, abnormal secondary sexual development, and mental retardation. Among these 45,XO/46,XX/47,XXX form is known as rare variant of Turner's syndrome. 45,XO/46,XX/47,XXX mosaicism is characterized by normal height, possibility of normal sexual development, menstrual/pregnancy history and normal intelligence. We report a cse of 45,XO/46,XX/47,XXX Turner's syndrome associated with primary amenorrhea in 17-year old Korean female.

Key Words: Turner's syndrome, Mosaicism, Primary amenorrhea