ESPE2022 Poster Category 2 Adrenals and HPA Axis (27 abstracts)
It is Not Always A Piece of Cake!!
Dina Diab , Shaymaa El Sayed , Iman Marzouq , Dalia El Neely , Mohamed Alaa Thabet & Ahmed El Awaa
Alexandria University Children's Hospital, Alexandria, Egypt
Introduction: Congenital lipoid adrenal hyperplasia (lipoid CAH), is a rare subtypes of adrenal hyperplasia yet the most fatal form, which seriously disrupts adrenal and gonadal steroidogenesis by a defect in the conversion of cholesterol to pregnenolone. Affected patients show salt loss from impaired mineralocorticoid and glucocorticoid synthesis. The defect in lipoid CAH is mainly in the steroidogenic acute regulatory protein (StAR), which promotes entry of cholesterol into mitochondria, where it becomes the substrate for the cholesterol side-chain cleavage enzyme, P450scc1. Most patients have female external genitalia regardless of chromosomal sex and have evidence of salt loss in the first year of life and usually within the first 2 months.
Case presentation: A 7-day-old 46,XX neonate presented with severe adrenal insufficiency; hyponatremia, hyperkalemia, hypovolemic shock and hyperpigmentation. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations.
Conclusion: Lipoid CAH is the most fatal form of CAH. Most cases of lipoid CAH are caused by recessive mutations in the StAR gene. Gene sequencing is the only definitive diagnostic method.
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