'''De La Chapelle Syndrome''' (also known as '''XX Male Syndrome''' or '''46, XX Testicular Disorder''') is an [[intersex]] formvariation that effects one in every 20,000 [[AMAB]] or [[CTM]] births in which an individual has female[[müllerian]] chromosomes (XX chromosomes) however they have a male appearance outwardly. Most with this condition [[Agenital|have small testicles or a missing testiclewolffian]] orappearance a urethra opening that is on a unusual spot of the genitals ([[hypospadias]]outwardly.) On rare occasion, one with this condition may have [[Ambiguous Genitalia<ref>{{Archive|Site=web|ambiguous genitals]]URL=https://en.wikipedia.org/wiki/XX_male_syndrome}}</ref><ref>{{Archive|Site=web|URL=https://medlineplus.gov/genetics/condition/46xx-testicular-disorder-of-sex-development/}}</ref>
Most with this variation [[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 variation 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 conditionvariation 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.<ref>{{Archive|Site=web|URL=https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/xx-male-syndrome}}</ref> Breast growth may also occur in some with this variation.<ref>https://web.archive.org/web/20221230173653/https://en.wikipedia.org/wiki/XX_male_syndrome#Signs_and_symptoms</ref>
A similar intersex variation is [[SERKAL Syndrome]].
== History ==
It is unknown when De La Chapelle Syndrome was discovered, however it has been recorded since 1987.
== ResourcesCauses ==
▲In about 80% of individuals with De La Chapelle Syndrome, the conditionvariation 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.
== References ==
* https://en.wikipedia.org/wiki/XX_male_syndrome
<references />
* 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
[[Category:Intersex Traits]]
[[Category:Flagless IdentitiesSexes]]
[[Category:Verified Resources]]
[[Category:Sex Category]]
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