Classic congenital lipoid adrenal hyperplasia due to STAR deficency

Classic congenital lipoid adrenal hyperplasia (lipoid CAH) due to STAR deficiency is a rare and severe inherited disorder that affects the body's ability to make essential steroid hormones. The condition is caused by mutations in the STAR gene, which provides instructions for a protein called steroidogenic acute regulatory protein. This protein is critical for moving cholesterol into the mitochondria of cells in the adrenal glands and gonads, where it is converted into hormones like cortisol, aldosterone, and sex hormones. Without functioning StAR protein, cholesterol builds up as fat droplets inside these glands, eventually destroying them. Babies with this condition typically become very sick in the first days to weeks of life due to a life-threatening adrenal crisis. They cannot produce enough cortisol (which helps the body handle stress) or aldosterone (which controls salt and water balance). This leads to dangerously low sodium levels, high potassium, dehydration, low blood pressure, and potentially fatal salt-wasting crises. Because sex hormone production is also severely impaired, genetic males (46,XY) are born with female-appearing or ambiguous external genitalia, while genetic females (46,XX) typically appear female at birth but may not go through puberty naturally. Treatment involves lifelong hormone replacement therapy with glucocorticoids (like hydrocortisone) and mineralocorticoids (like fludrocortisone). Sex hormone replacement is also needed at the expected age of puberty. With early diagnosis and proper treatment, children can survive and lead meaningful lives, though they require careful medical management throughout their lifetime.

Bring these to your next appointment

• Q1.What are the exact medication doses my child needs, and how do I adjust them during illness or stress?,Can you teach me how to give an emergency hydrocortisone injection, and when should I use it?,When should we start sex hormone replacement therapy, and what are the options?,What are the signs of an adrenal crisis, and when should I go to the emergency room?,Will my child be able to have children in the future, and are there fertility options?,Should other family members be tested to see if they are carriers of this gene change?,What psychological or emotional support services are available for my child and our family?

Common questions about Classic congenital lipoid adrenal hyperplasia due to STAR deficency

Related conditions

Other rare diseases commonly researched alongside Classic congenital lipoid adrenal hyperplasia due to STAR deficency.

• Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency→
• Familial glucocorticoid deficiency→