| Three Cases of Familial Glucocorticoid Deficiency. |
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Soo Heum Lim, Young Wun Kim, Byoung Hai Ahn, Hyung Ro Moon |
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Department of Pediatrics, College of Medicine, Seoul National University |
| 가족성 당질피질성 호르몬 결핍질환 3례 |
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임수홈, 김영선, 안병해, 문형로 |
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서울대학교 의과대 학 소아과학교실 |
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| Abstract |
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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.
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| Key Words:
Familial glucocorticoid deficiency, Skin hyperpigmentation. |
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