Lipoid congenital adrenal hyperplasia (LCAH) is a severe type of congenital adrenal hyperplasia, that impacts the bodies ability to produce essential hormones in their adrenal glands (located above the kidneys) and gonads (testes or ovaries) due to issues with converting cholesterol in the body.
In the severe type, individuals face critical salt-wasting crises early in life, where their bodies can’t retain salt, causing dehydration and dangerous complications. They may also experience tiredness, feeding problems, and darkened skin. Regardless of their genetic sex, they typically have female genitalia, and some might have neurological issues. Currently, there’s no cure for LCAH. However, hormone replacement therapy can help manage the condition. People need to take medications consistently, which can extend their lifespan into adulthood. Doctors, especially endocrinologists, will closely monitor the dosage, side effects, growth, and development of patients who receive treatment.
LCAH is caused by pathogenic (disease-causing) variants in the STAR gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.