Korean J Obstet Gynecol.  1997 Feb;40(2):446-450.

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

• Jeon JH
• Lee MS
• Kim JD
• Lee DG
• Jee HL
• Kim JG

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.

Keyword

Turner's syndrome; Mosaicism; Primary amenorrhea

MeSH Terms

Adolescent
Amenorrhea*
Female
Humans
Infertility
Intellectual Disability
Intelligence
Mosaicism*
Phenotype
Sexual Development
Turner Syndrome