Abstract
The 46 XX, testicular sex differentiation disorder, or XX male syndrome, is a rare condition detected by cytogenetics, in which testicular development occurs in the absence of the Y chromosome. It occurs in 1:20,000 to 25,000 male newborns and represents 2% of cases of male infertility. About 90% of individuals present with normal phenotype at birth and are generally diagnosed after puberty for hypoganadism, gynecomastia, and/or infertility. The authors present the report of an XX male with complete masculinization and infertility.
Highlights
The testicular disorder of sex differentiation 46,XX (DSD 46,XX; OMIM 278850), or XX male syndrome, was first described by de la Chapelle, in 1964(1). It is a rare condition, in which testicular development occurs in the absence of the Y chromosome detected by cytogenetics
Despite the fact that diagnosis may be made at puberty, since one third of patients develop gynecomastia, the disorder is frequently established at the time of investigation of the cause of infertility, by detection of a 46,XX karyotype in an individual with a male phenotype, since all XX males are sterile
That is yet unknown, which would activate the cascade of testicular differentiation in XX and SRY-negative males; or [3] occult mosaicism of the Y chromosome limited to the gonadal tissue or eliminated during development[5]
Summary
The testicular disorder of sex differentiation 46,XX (DSD 46,XX; OMIM 278850), or XX male syndrome, was first described by de la Chapelle, in 1964(1). Despite the fact that diagnosis may be made at puberty, since one third of patients develop gynecomastia, the disorder is frequently established at the time of investigation of the cause of infertility, by detection of a 46,XX karyotype in an individual with a male phenotype, since all XX males are sterile. These patients present with decreased facial hairs and a tendency toward female distribution of pubic hair.
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