A Case of a 46,XX Male with SRY Gene.
- Author:
Jeongyong MIN
1
;
Dong Suk LEE
;
Soo Kyung CHO
;
Sohyun PARK
;
Soomin LEE
;
Minkyung BAEK
;
Kichul KIM
;
Doyeong HWANG
Author Information
1. Hamchoon Institute of Fertility & Genetics, Hamchoon Women's Clinic, Seoul, Korea. doyhwang@hamchoon.com
- Publication Type:Case Report
- Keywords:
46,XX male;
SRY gene;
QF-PCR;
FISH;
Sex reversal
- MeSH:
Arm;
Azoospermia;
Constitution and Bylaws;
Cytogenetic Analysis;
Cytogenetics;
Fluorescence;
Genes, sry;
Gynecomastia;
Humans;
Hyalin;
Hypogonadism;
Incidence;
Infant, Newborn;
Karyotype;
Male;
Multiplex Polymerase Chain Reaction;
Phenotype;
Seminiferous Tubules;
Sex-Determining Region Y Protein;
Testis;
Y Chromosome
- From:Journal of Genetic Medicine
2008;5(2):145-149
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
46,XX male is a rare sex constitution characterized by the development of bilateral testis in persons who lack a Y chromosome. Manifestations of 46,XX males are usually hypogonadism, gynecomastia, azoospermia, and hyalinations of seminiferous tubules. The incidence of XX male reversal is approximately 1 in 20,000 male neonates. The SRYgene is located at the short arm of the Y chromosome(Yp11.31) and codes for testis determining factor in humans. Here, the patient, who presented with a normal male phenotype, was referred for azoospermia. Conventional cytogenetic analysis showed a 46,XX karyotype. Quantitative fluorescent polymerase chain reaction(QF-PCR) and Multiplex PCR studies identified SRY gene. And, Fluorescence In Situ Hybridization(FISH) confirmed the SRY gene on the distal short arm of chromosome X. We identified the SRY gene on the distal short arm of chromosome X by molecular cytogenetic and molecular analyses. Therefore, molecular-cytogenetics and molecular studies were proved to be clinically useful adjunctive tool to conventional prenatal cytogenetic analysis.
