A Case of 46,XY Pure Gonadal Dysgenesis with Loss of the Sex-Determining Region of Y Chromosome.
10.3343/kjlm.2008.28.2.151
- Author:
Kui hyun YOON
1
;
Young Jin LEE
Author Information
1. Department of Laboratory Medicine, Wonkwang University Sanbon Hospital, Gunpo, Korea.
- Publication Type:Case Report ; English Abstract
- Keywords:
SRY;
46;
XY;
Pure gonadal dysgenesis;
Primary amenorrhea
- MeSH:
Adult;
Chromosomes, Human, Y;
Female;
*Gene Deletion;
*Genes, sry;
Gonadal Dysgenesis, 46,XY/*diagnosis/genetics;
Humans;
In Situ Hybridization, Fluorescence;
Karyotyping;
Polymerase Chain Reaction
- From:The Korean Journal of Laboratory Medicine
2008;28(2):151-154
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
A 23-yr-old phenotypic female was seen for primary amenorrhea. Her pubic hair was relatively well developed and external genitalia showed normal female appearance, but breast development was retarded. Transvaginal ultrasonographic examination showed a small uterus with indistinct streak gonads, but both ovaries were not detected. Cytogenetic study revealed 46,XY. In FISH and PCR, the sex-determining region of Y chromosome (SRY) was not detected. We report here a case of 46,XY pure gonadal dysgenesis with loss of the SRY.
