Female genetic diseases
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Changes or mutations in a person's DNA lead to genetic disorders. Women are susceptible to certain types of genetic disorders that are unique, such as Turner syndrome.
Our summary offers current information on the genes linked to three female reproductive disorders (PCOS, POI, and hypogonadotropic hypogonadism). Genetic analysis plays a crucial role in diagnosing these disorders and providing personalized care for patients with impaired female reproduction.
FGFR1 and CHD7 are the two genes most commonly involved in pituitary hormone deficiency. When hypogonadotropic hypogonadism is present, PROP1 mutations are the most frequent among the six genes involved. In hypergonadotropic hypogonadism, mutations in 14 genes can cause gonadal failure in 15% of affected females, with FMR1 being the most common. Eugonadal disorders have been linked to activating FSHR mutations in spontaneous ovarian hyperstimulation syndrome and WNT4 mutations in mullerian aplasia. Although specific germline gene mutations have not been identified for endometriosis, polycystic ovary syndrome, and leiomyomata, some chromosomal regions are associated with the corresponding phenotype. Genetic testing is feasible for hypogonadotropic and hypergonadotropic hypogonadism and spontaneous ovarian hyperstimulation syndrome. However, clinical testing for endometriosis, polycystic ovary syndrome, and leiomyomata is not currently practical for clinicians.