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Last Updated: April 9, References. This article was co-authored by Imad Jbara. There are 20 references cited in this article, which can be found at the bottom of the page. This article has been viewed 1,, times.
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XX male syndrome , also known as de la Chapelle syndrome , is a rare congenital intersex condition in which an individual with a 46, XX karyotype otherwise associated with females has phenotypically male characteristics that can vary among cases. 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. The appearance of XX males can fall into one of three categories: 1 males that have normal internal and external genitalia, 2 males with external ambiguities, and 3 males that have both internal and external genital ambiguities also known as true hermaphrodites. All are sterile. They generally have small testes and may also have abnormalities such as undescended testes cryptorchidism or the urethra opening on the underside of the penis hypospadias.
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