Familial Glucocorticoid Deficiency Presenting with Skin Hyperpigmentation: A Case Report.

ABSTRACT

Familial Glucocorticoid Deficiency (FGD) has highmorbidity and mortality, if not diagnosed and managedin time. The patient is liable to have hypoglycaemiawhich could be complicated by seizure and braindamage. 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, birthweight 3 kg and born by uneventful normal delivery.On the second day of life, the baby had hypoglycaemiaand later he developed mucosal membrane and skinhyperpigmentation. Critical sample during thehypoglycemic episode showed low serum cortisol, highadrenocorticotropic hormone level, normal serumelectrolytes and normal kidney function. Arare familialglucocorticoid deficiency was diagnosed in time bydoing appropriate investigations; includes criticalsample during hypoglycaemia and the case wasmanaged successfully by hydrocortisone 5 mg orallyonce daily.