
17-Hydroxylase Deficiency
17-Hydroxylase deficiency is a rare genetic disorder affecting hormone production in the adrenal glands and ovaries/testes. It reduces the formation of certain hormones like cortisol and sex steroids, leading to hormonal imbalances. This can cause individuals assigned female at birth to develop underdeveloped ovaries and internal reproductive structures, often resulting in lack of menstruation and infertility. People assigned male may have decreased testosterone levels, leading to incomplete sexual development and ambiguous or female-appearing genitalia. Additionally, the body compensates by increasing other hormone levels, which can cause high blood pressure. Treatment usually involves hormone therapy to replace the missing hormones.