De la Chapelle Syndrome
(also: 46,XX with SRY gene, XX Male Syndrome)
Table of Contents
General Information
Someone who has this intersex variation is born with XX chromosomes in addition to a penis and testes. This occurs when a particular gene known as the SRY gene (typically found on Y chromosomes) ends up on one of the X chromosomes and caused the genitals and internal reproductive organs to develop as they typically would in someone with XY chromosomes. The testes of someone with De la Chapelle syndrome may be smaller than typical, undescended, and often infertile. In adolescence, someone with this intersex variation may experience breast growth, and might not develop the characteristics that are usually associated with a typical testosterone-based puberty.
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