J Korean Soc Pediatr Endocrinol.  2003 Dec;8(2):184-188.

A Case of SRY Positive 46,XX Male

Abstract

46,XX male is a rare abnormality of sex determination with an incidence of 1 in 20,000 male neonates. The clinical manifestations of 46,XX males are usually hypogonadism, gynecomastia, azoospermia, and hyalinations of seminiferous tubules, with altered hormonal levels at puberty. Less frequently, some sexual ambiguities are found, always with sterility owing to reduced testicular development. The origin of male phenotype in 46,XX male could be the results of at least three different mechanisms:translocations of Y sequence, including the SRY gene, to an X chromosome or to an autosome(about 90% of cases); a mutation in a yet unknown X-linked or autosomal gene in the testis-determinating pathway, and cryptic Y chromosome mosacism. We experienced a case of SRY-positive 46,XX male in a 21-year-old man with small testes. (J Korean Soc Pediatr Endocrinol 2003;8:184-188)

Keyword

46; XX male; SRY; Hypogonadism

MeSH Terms

Adolescent
Azoospermia
Genes, sry
Gynecomastia
Humans
Hyalin
Hypogonadism
Incidence
Infant, Newborn
Infertility
Male*
Phenotype
Puberty
Seminiferous Tubules
Testis
X Chromosome
Y Chromosome
Young Adult
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