Familial Glucocorticoid Deficiency Presenting with Skin Hyperpigmentation: A Case Report

Abstract

Familial Glucocorticoid Deficiency (FGD) has high morbidity and mortality, if not diagnosed and managed in time. The patient is liable to have hypoglycaemia which could be complicated by seizure and brain damage. Also these patients if not treated appropriately; will have high risk of infections and failure to thrive. We report a case of FGD baby of full term, male, birth weight 3 kg and born by uneventful normal delivery. On the second day of life, the baby had hypoglycaemia and later he developed mucosal membrane and skin hyperpigmentation. Critical sample during the hypoglycemic episode showed low serum cortisol, high adrenocorticotropic hormone level, normal serum electrolytes and normal kidney function. Arare familial glucocorticoid deficiency was diagnosed in time by doing appropriate investigations; includes critical sample during hypoglycaemia and the case was managed successfully by hydrocortisone 5 mg orally once daily.

Keywords

• familial glucocorticoid deficiency
• adrenocorticotropic hormone
• cortisol