Some commonly encountered genetic syndromes in gynecology include:
- Polycystic Ovary Syndrome (PCOS): Although not classically a genetic syndrome, it has a strong genetic component and affects menstrual cycles, fertility, and metabolic health. - Fragile X Syndrome: This can lead to premature ovarian insufficiency, impacting fertility. - BRCA1 and BRCA2 mutations: These genetic mutations significantly increase the risk of breast and ovarian cancers. - Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: This involves congenital absence of the uterus and upper two-thirds of the vagina.
