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[[File:Serkal syndrome flag.jpg|thumb|The SERKAL Syndrome flag.]] |
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'''SERKAL Syndrome''' is an [[intersex]] |
'''SERKAL Syndrome''' is an [[intersex]] variation (similar to [[De La Chapelle Syndrome|de la chapelle syndrome]]) in which an individual has [[müllerian]] chromosomes (XX) however they have a [[wolffian]] appearance. This occurs in 1 in 1,000,000 [[CTM]] individuals.<ref>https://en.wikipedia.org/wiki/Serkal_syndrome</ref> This variation has only been reported in one family. All three fetuses with this variation were terminated during pregnancy.<ref>https://medlineplus.gov/genetics/gene/wnt4/#conditions</ref> <ref>https://www.omim.org/entry/611812</ref> |
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100% of those with this |
100% of those with this variation have growth delay, oligohydramnios, a small lung, an absent kidney, abnormalities in the nostrils, and [[Neurodivergent|seizures]]. |
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30%-79% of those |
30%-79% of those with this variation have abnormalities in the adrenal glands, a cleft in the mouth, ventricular septal defect, pulmonic stenosis, malrotation of the small bowel, an underdeveloped bladder, congenital diaphragmatic hernia, and genital abnormalities (such as having [[Agenital|cryptorchidism, a micropenis]], [[hypospadias]], and/or [[Penoscrotal Transposition|penoscrotal transposition]].) |
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Other symptoms include having [[Ovotesticular|ovotestes]], low-set ears, a cleft palate, and abnormal restriction within weight and growth as an infant. It is unknown how frequent these symptoms are. |
Other symptoms include having [[Ovotesticular|ovotestes]], low-set ears, a cleft palate, and abnormal restriction within weight and growth as an infant. It is unknown how frequent these symptoms are.<ref>https://rarediseases.info.nih.gov/diseases/10302/serkal-syndrome#:~:text=SERKAL%20(SEx%20Reversion%2C%20Kidneys%2C,kidneys%2C%20adrenal%20glands%20and%20lungs.&text=The%20syndrome%20is%20lethal%20and%20has%20been%20described%20in%20three%20foetuses.&text=It%20is%20caused%20by%20homozygous%20missense%20mutations%20in%20the%20WNT4%20gene%20</ref> |
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== Causes |
== Causes== |
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This |
This variation is due to mutation in the ''Wnt4'' gene, which causes sex reversal that occurs during fetal development, in which gonad differentiation occurs. This means they were originally going to develop as female, however only the chromosomes did such, and the rest of the body developed in a wolffian-like fashion.<ref>https://en.wikipedia.org/wiki/Serkal_syndrome#Genetics</ref> |
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==Flag== |
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The SERKAL Syndrome flag was coined by [[User:Reign of the breadsticcs|Reign of the breadsticcs]] on May 7th of 2021. It has no confirmed meaning.<ref>https://lgbta.wikia.org/f/p/4400000000000137332/r/4400000000000449105</ref> |
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==References== |
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* https://en.wikipedia.org/wiki/Sex_reversal#:~:text=Sex%20reversal%20is%20a%20biological,and%20the%20sex%20phenotype%20expressed. |
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<references /> |
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* https://rarediseases.info.nih.gov/diseases/10302/serkal-syndrome#:~:text=SERKAL%20(SEx%20Reversion%2C%20Kidneys%2C,kidneys%2C%20adrenal%20glands%20and%20lungs.&text=The%20syndrome%20is%20lethal%20and%20has%20been%20described%20in%20three%20foetuses.&text=It%20is%20caused%20by%20homozygous%20missense%20mutations%20in%20the%20WNT4%20gene%20. |
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* https://en.wikipedia.org/wiki/Serkal_syndrome |
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* https://www.omim.org/entry/611812 |
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* https://monarchinitiative.org/disease/MONDO:0012734#phenotype |
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[[Category:Intersex Traits]] |
[[Category:Intersex Traits]] |
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[[Category:Verified Resources]] |
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[[Category:Sex Category]] |
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[[Category:Pages With No History Section]] |
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Latest revision as of 15:38, 22 January 2023
SERKAL Syndrome is an intersex variation (similar to de la chapelle syndrome) in which an individual has müllerian chromosomes (XX) however they have a wolffian appearance. This occurs in 1 in 1,000,000 CTM individuals.[1] This variation has only been reported in one family. All three fetuses with this variation were terminated during pregnancy.[2] [3]
100% of those with this variation have growth delay, oligohydramnios, a small lung, an absent kidney, abnormalities in the nostrils, and seizures.
30%-79% of those with this variation have abnormalities in the adrenal glands, a cleft in the mouth, ventricular septal defect, pulmonic stenosis, malrotation of the small bowel, an underdeveloped bladder, congenital diaphragmatic hernia, and genital abnormalities (such as having cryptorchidism, a micropenis, hypospadias, and/or penoscrotal transposition.)
Other symptoms include having ovotestes, low-set ears, a cleft palate, and abnormal restriction within weight and growth as an infant. It is unknown how frequent these symptoms are.[4]
Causes
This variation is due to mutation in the Wnt4 gene, which causes sex reversal that occurs during fetal development, in which gonad differentiation occurs. This means they were originally going to develop as female, however only the chromosomes did such, and the rest of the body developed in a wolffian-like fashion.[5]
Flag
The SERKAL Syndrome flag was coined by Reign of the breadsticcs on May 7th of 2021. It has no confirmed meaning.[6]
References
- ↑ https://en.wikipedia.org/wiki/Serkal_syndrome
- ↑ https://medlineplus.gov/genetics/gene/wnt4/#conditions
- ↑ https://www.omim.org/entry/611812
- ↑ https://rarediseases.info.nih.gov/diseases/10302/serkal-syndrome#:~:text=SERKAL%20(SEx%20Reversion%2C%20Kidneys%2C,kidneys%2C%20adrenal%20glands%20and%20lungs.&text=The%20syndrome%20is%20lethal%20and%20has%20been%20described%20in%20three%20foetuses.&text=It%20is%20caused%20by%20homozygous%20missense%20mutations%20in%20the%20WNT4%20gene%20
- ↑ https://en.wikipedia.org/wiki/Serkal_syndrome#Genetics
- ↑ https://lgbta.wikia.org/f/p/4400000000000137332/r/4400000000000449105