hrp0094p2-11 | Adrenals and HPA Axis | ESPE2021

Rare Presentation of Adrenal Insufficiency in an Infant with Holocarboxylase Synthetase Deficiency

Al-Farsi Aws , Qureshi Tabinda Naz , Ullah Irfan , Al-Rahbi Najwa , Abdwani Raghad Al , Al-Musalhi Buthaina , Al-Thihl Khalid , Al-Shidhani Azza , Alsaffar Hussain ,

Introduction: Adrenal insufficiency can be caused by different factors. Biotin deficiency is either nutritional or related to synthesis/recycling defects. We are reporting a rare case of adrenal insufficiency complicating a late diagnosis of holocarboxylase synthetase deficiency in an infant who also had protein-S-deficiency, later thought to be secondary.Case: Term female infant born, to non-consanguineous parents, in good condition wit...