Single-Center Experience in Five Patients Diagnosed with Lipoid Congenital Adrenal Hyperplasia due to Steroidogenic Acute Regulatory Protein (STAR) Gene Variants: A Rare Cause of Adrenal Insufficiency

Abstract excerpt

Lipoid congenital adrenal hyperplasia (LCAH) is the rarest and most severe form of congenital adrenal hyperplasia (CAH), characterized by impaired adrenal and gonadal steroidogenesis. This case series presents our clinical experience with five pediatric patients diagnosed with LCAH due to mutations in the steroidogenic acute regulatory protein (STAR) gene. Clinical and laboratory data from five patients diagnosed...

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