Steroidogenic Acute Regulatory Protein Deficiency

**Semantic type:** Laboratory or Test Result

**Definition:** Congenital lipoid adrenal hyperplasia (CLAH) due to loss-of-function mutations in the STAR gene, resulting in decreased or absent production of steroidogenic acute regulatory protein (StAR), which leads to deficient transport of cholesterol from the outer to the inner mitochondrial membrane.

**Synonyms:** - StAR Deficiency - StAR Deficiency