All issues > Volume 29(5); 1986

Case Report

J Korean Pediatr Soc. 1986;29(5):549-552. Published online May 31, 1986.

Three Cases of Familial Glucocorticoid Deficiency.

Soo Heum Lim¹, Young Wun Kim¹, Byoung Hai Ahn¹, Hyung Ro Moon¹

¹Department of Pediatrics, College of Medicine, Seoul National University

Abstract

Familial glucocorticoid defiency is a form of chronic adrenal insufficiency which is characterized by isolated deficiency of glucocorticoid and elevated levels of corticotropin in association with normal aldosterone production. It is thought to be degenerative process of adrenal cortex, with autosomal recessive or X-linked recessive pattern of inheritance. Skin hyperpigmentation and hypoglycemic symptom are characteristic and salt-losing symptom doesn’t develop. We experienced 3 cases of familial glucocorticoid deficiency. Diagnosis was made by clinical symptoms, and signs, serum ACTH, cortisol, aldosterone, electrolyte levels and urinary 17-OHCS and 17-KS levels. Skin hyperpigmentation was decreased with oral daily doses of hydrocortisone or cortisone acetate for several months. A brief review of literature was made.

Keywords :Familial glucocorticoid deficiency; Skin hyperpigmentation.