J Genet Med.  2008 Dec;5(2):145-149.

A Case of a 46,XX Male with SRY Gene

• Min J
• Lee DS
• Cho SK
• Park S
• Lee S
• Baek M
• Kim K
• Hwang D

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.

Keyword

46,XX male; SRY gene; QF-PCR; FISH; Sex reversal

MeSH Terms

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
Sex-Determining Region Y Protein