Severe Impact of Late Diagnosis of Congenital Adrenal Hyperplasia on Gender Identity, Sexual Orientation, and Function: Case Report and Review of the Literature

The document reports on a rare case of a 46-year-old Italian woman who received a very late diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, which significantly affected her physical and psychosexual development. She exhibited symptoms such as primary amenorrhea, short stature, overweight with visceral adiposity, hypercholesterolemia, insulin resistance, hirsutism with male-pattern hair growth, ambiguous genitalia, severe depression, gender dysphoria, cross-gender behaviors, body image discomfort, homosexual orientation, and sexual dysfunction. After the diagnosis and initiation of glucocorticoid replacement therapy, along with changes in familial and socio-cultural factors, she experienced improvements in her menstrual cycle, hirsutism, metabolic profile, and psychological issues, including depression and gender dysphoria. Her sexual orientation and function also improved. This case is unique in that it includes a comprehensive psychosexual assessment at diagnosis and a detailed re-evaluation after 5 years of treatment, which has not been previously documented in the literature for patients with such a delayed diagnosis of CAH.