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A Case of Congenital Adrenal Agenesis.

Journal of the Korean Pediatric Society 1984;27(11):1118-1122.
Published online November 30, 1984.
A Case of Congenital Adrenal Agenesis.
Kyeong Wha Lee1, Hyung Jin Choi1, Sang Man Shin1, Sang Jhoo Lee1, Dong Wha Lee2
1Department of Pediatrics, SootichunhyaKg University, School of Medicine
2Department of Pathology, SootichunhyaKg University, School of Medicine
선천성 부신 무형성 1례
이경화1, 최형진1, 신상만1, 이상주1, 이동화2
1순천향대학 의학부 소아과학교실
2순천향대학 의학부 임상병리학교실
Abstract
Congenital adrenal agenesis or hypoplasia is very rare disorder which causes adrenal insufficiency. It is usually the result of an isolated defect of organogenesis. It may be sporadic, or it may express itself as an autosomal recessive or X-linked disorder within families. We experienced a baby who revealed hyperpigmentation, hypoglycemia, hyperkalemia and hyponatremia immediately after birth. Hormone study was compatible with primary adrenal insufficiency. Complete absence of adrenal glands were noted at autopsy. Therefore we report a cases of congenital adrenal agenesis which was verified at autopsy and a brief review of literature were presented.
Key Words: Congenital adrenal agenesis.


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