De La Chapelle Syndrome (also known as XX Male Syndrome) is an intersex form that effects one in every 20,000 AMAB births in which an individual has female chromosomes (XX chromosomes) however they have a male appearance outwardly. Most with this condition 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 genitals.
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 (HRT) one may have a higher chance at a more natural flow of growth during puberty.
History
It is unknown when De La Chapelle Syndrome was discovered, however it has been recorded since 1987.
Resources
- https://en.wikipedia.org/wiki/XX_male_syndrome
- https://medlineplus.gov/genetics/condition/46xx-testicular-disorder-of-sex-development/
- https://www.orpha.net/consor/cgi-bin/Disease_Search.php?Disease(s)%2Fgroup+of+diseases=De-la-Chapelle-syndrome&Disease_Disease_Search_diseaseGroup=393&Disease_Disease_Search_diseaseType=ORPHA&data_id=5546&lng=EN&search=Disease_Search_Simple&title=De-la-Chapelle-syndrome
- https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/xx-male-syndrome