XX male syndrome
Congenital condition where an individual with a 46,XX karyotype is male / From Wikipedia, the free encyclopedia
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XX male syndrome, also known as de la Chapelle syndrome, is a rare condition in which an individual with a 46,XX karyotype develops a male phenotype.[2] Synonyms for XX male syndrome include 46,XX testicular difference of sex development (or 46,XX DSD)[3][4][5][6]
XX male syndrome | |
---|---|
Other names | De la Chapelle syndrome[1] |
Human karyotype 46 XX | |
Specialty | Medical genetics |
In 90 percent of these individuals, the syndrome is caused by the Y chromosome's SRY gene, which triggers male reproductive development, being atypically included in the crossing over of genetic information that takes place between the pseudoautosomal regions of the X and Y chromosomes during meiosis in the father.[2][7] When the X with the SRY gene combines with a normal X from the mother during fertilization, the result is an XX male. Less common are SRY-negative XX males, which can be caused by a mutation in an autosomal or X chromosomal gene.[2] The masculinization of XX males is variable.
This syndrome is diagnosed through various detection methods and occurs in approximately 1:20,000 newborn males, making it much less common than Klinefelter syndrome.[2][8][9] Medical treatment of the condition varies, with medical treatment usually not necessary.[1][10] The alternative name for XX male syndrome refers to Finnish scientist Albert de la Chapelle, who studied the condition and its etiology.[11]