Late-onset congenital adrenal hyperplasia
Type of disease: Rare conditions
Late-onset congenital adrenal hyperplasia (LOCAH) is a variation of a genetic disorder known as congenital adrenal hyperplasia (CAH). Individuals with CAH are usually diagnosed as newborns, whereas those with LOCAH are diagnosed later in life. In females, symptoms may include excessive hair growth, absent periods, infertility, hair loss (androgenic alopecia), masculinized genitalia, and acne. Many of these symptoms overlap with other disorders, including polycystic ovarian syndrome. Males with LOCAH may have early beard growth, an enlarged penis with small testes, a low sperm count, and short stature. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.