SERKAL Syndrome is an intersex condition 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 condition have growth delay, oligohydramnios, a small lung, an absent kidney, abnormalities in the nostrils, and seizures.
30%-79% of those witth this condition 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, 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.
Causes
This condition 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.
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