Adrenal Crisis in an adult Patient with Lipoid Congenital Adrenal Hyperplasia Due to STAR Mutation

Abstract.Background/Objective Congenital adrenal hyperplasia (CAH) comprises inherited disorders of adrenal steroidogenesis. Lipoid congenital adrenal hyperplasia (LCAH), caused by steroidogenic acute regulatory (STAR) protein deficiency, is a rare and severe form characterized by complete or near-complete impairment of adrenal and gonadal steroid production. We report a case of adrenal crisis in an adult patient with LCAH. Case Presentation A 22-year-old Yemeni woman with LCAH due to a homozygous STAR mutation (exon 5, c.670C>T; p.A182C) presented with paresthesia and mild hypotension and was found to have significant hyperkalemia. Adrenal crisis was diagnosed, and she was treated with stress-dose glucocorticoids, resulting in resolution of symptoms and electrolyte abnormalities. Her medical history was notable for 46,XY sex reversal syndrome with primary amenorrhea, absent uterus, cryptorchidism requiring bilateral gonadectomy in childhood, and lifelong glucocorticoid and mineralocorticoid replacement, with estrogen therapy initiated at puberty. She also had hypothyroidism and a fixed Chiari I malformation. Despite long-term endocrinology follow-up, she had multiple prior admissions for salt-wasting crises with markedly elevated adrenocorticotropic hormone (ACTH) and plasma renin activity. Discussion LCAH results in profound deficiency of mineralocorticoids, glucocorticoids, and sex steroids due to global impairment of steroidogenesis. Unlike 21-hydroxylase deficiency, LCAH is characterized by absent androgen production and lack of virilization in 46,XY individuals. Conclusions Patients with severe forms of CAH may require higher glucocorticoid doses to prevent adrenal crises; however, overtreatment increases the risk of metabolic complications. Careful individualized titration of replacement therapy is essential.