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The genotype of most affected individuals was 46, XX, but many had 46, XY (see 400044) or a mosaic of 46, XX/46, XY. The proband had a male phenotype and gender role, bilateral scrotal ovotestes with palpable nodules, and absence of mullerian structures.

Of 106 cases, 60% were considered to have a male phenotype and 40% a female phenotype, which did not correlate with presence or absence of the Y chromosome, although the presence of a Y chromosome tended to be associated with a male phenotype. The karyotype was 46, XX in peripheral blood lymphocytes and gonadal fibroblasts. (2007) compared the 46, XX male syndrome and the more frequent 47, XXY-Klinefelter syndrome in regard to clinical, hormonal, and epigenetic features.

The length of the AR CAG repeat polymorphism was positively related to traits of hypogonadism.

17579198] [Full Text]" pmid="17579198"Aksglaede et al. (2008) evaluated the role of abnormal chromosome constitution for longitudinal growth in relation to reproductive hormones, IGF1 (147440), and IGFBP3 (146732) in eighty-six 47, XXY males, fourteen 46, XX males, and nine 47, XYY.

They found accelerated growth in early childhood in boys with 47, XXY and 47, XYY karyotypes, whereas 46, XX males were shorter than controls.

These abnormal growth patterns were not reflected in circulating levels of IGF1 and IGFBP3.

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