SERKAL Syndrome is an intersex variation similar to de la chapelle syndrome in which an individual has female chromosomes (XX) however they have a male appearance outwardly. This occurs in 1 in 1,000,000 CTM individuals.
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 witth 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.
It is important to note that not all the symptoms listed in this page are guaranteed to occur in someone with this variation, as someone may only experience one or several of these symptoms, yet still hold the variation.
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 male-like fashion.
Flag
The SERKAL Syndrome flag was coined by Reign of the breadsticcs on May 7th of 2021. It has no confirmed meaning.
Resources
- https://en.wikipedia.org/wiki/Sex_reversal#:~:text=Sex%20reversal%20is%20a%20biological,and%20the%20sex%20phenotype%20expressed.
- 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
- https://www.omim.org/entry/611812
- https://monarchinitiative.org/disease/MONDO:0012734#phenotype
- https://lgbta.wikia.org/f/p/4400000000000137332/r/4400000000000449105