De La Chapelle Syndrome: Difference between revisions

Help

'''De La Chapelle Syndrome''' (also known as '''XX Male Syndrome''') is an [[intersex]] condition that effects one in every 20,000 [[AMAB]] or [[CTM]] births in which an individual has female chromosomes (XX chromosomes) however they have a male appearance outwardly. Most with this condition [[Agenital|have small testicles or a missing testicle]] or a urethra opening that is on a unusual spot of the genitals ([[hypospadias]].) On rare occasion, one with this condition may have [[Ambiguous Genitalia|ambiguous genitals]]. Because of this, they may have [[AMAB Hypogonadism]].

In about 80% of individuals with De La Chapelle Syndrome, the condition results from an abnormal exchange of genetic material between chromosomes while they were forming in the uterus, which causes the individual to have no Y chromosomes, or only partial Y chromosomes.

Many with this condition tend to be shorter than average and infertile, however with testosterone treatments ([[Hormone Replacement Therapy|HRT]]) one may have a higher chance at a more natural flow of growth during puberty.

It is important to note that not all the symptoms listed in this page are guaranteed to occur in someone with this condition, as someone may only experience one or several of these symptoms, yet still hold the condition.

A similar intersex condition is [[SERKAL Syndrome]].

* https://medlineplus.gov/genetics/condition/46xx-testicular-disorder-of-sex-development/