Kürşat ÇETİN, Zeynep DONBALOĞLU, Yasemin Funda BAHAR, Ali TIRTAR, Sezin Yakut UZUNER, Mesut PARLAK, Hale TUHAN
Journal of Clinical Research in Pediatric Endocrinology - 2026;18(2):305-313
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 with LCAH and followed at the Pediatric Endocrinology Clinic of Akdeniz University Faculty of Medicine Hospital between January 2020 and May 2025 were retrospectively reviewed. The patients, aged 7 days to 6 months, all exhibited a female phenotype and presented with vomiting and feeding difficulties. Three showed hyperpigmentation. Severe hyponatremia, hyperkalemia, elevated adrenocorticotropic hormone and renin activity, and low cortisol were observed. Aldosterone and 17-hydroxyprogesterone were normal; testosterone and precursors were low. Imaging showed bilateral adrenal lipoid infiltration and hyperplasia. Karyotypes included 46,XX (n=3) and 46,XY (n=2). STAR gene mutations identified were c.505G>A, c.33del, and c.288G>T. All received hydrocortisone and fludrocortisone and all survived without morbidity. LCAH is a rare genetic disorder that can present with life-threatening adrenal insufficiency. However, as demonstrated in these cases, early diagnosis and appropriate treatment can lead to excellent outcomes.
