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XX male syndrome : ウィキペディア英語版
XX male syndrome

XX male syndrome (also called de la Chapelle syndrome, for Albert de la Chapelle, who characterized it in 1972) is a rare sex chromosomal disorder. Usually, it is caused by unequal crossing over between X and Y chromosomes during meiosis in the father, which results in the X chromosome containing the normally-male SRY gene. When this X combines with a normal X from the mother during fertilization, the result is an XX male.
This syndrome occurs in approximately four or five in 100,000 individuals, making it less common than Klinefelter syndrome.〔http://www.healthline.com/galecontent/xx-male-syndrome Healthline.com: XX Male Syndrome〕
==Presentation==
Symptoms usually include small testes and subjects are invariably sterile. Individuals with this condition sometimes have feminine characteristics, with varying degrees of gynecomastia but with no intra-abdominal Müllerian tissue.〔 According to research at the University of Oklahoma health science centers, most XX males are not stereotypically feminine and are typical boys and men although other reports suggest that facial hair growth is usually poor and libido is diminished, with notable exceptions.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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