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A Case of Congenital Lipoid Adrenal Hyperplasia

Journal of the Korean Pediatric Society 1995;38(4):567-573.
Published online April 15, 1995.
A Case of Congenital Lipoid Adrenal Hyperplasia
Hae Kyung Lee, Dong Hwan Lee, Sang Jhoo Lee
Department of Pediatrics, Soonchunhyang University, College of Medicine, Seoul, Korea
Congenital Lipoid Adrenal Hyperplasia 1례
이혜경, 이동환, 이상주
순천향대학교 의과대학 소아과학교실
Congenital lipoid adrenal hyperplasia is the rarest type among salt losing types of congenital adrenal hyperplasia. The defect of this disorder is in the cholesterol side chain cleavage enzyme(P450SCC)which converts cholesterol to pregnenolone. We experienced a case of 20,22 desmolse deficiency in a 21-day old phenotypically female who was admitted to our hospital due to lethargy and dark skin pigmentation. The characteristic findings were decreased serum cortisol, aldosterone, testosterone, increased ACTH. The ACTH and hCG stimulation test were performed and there were no response. The sex chromosomal analysis showed made XY. One year later after hormone therapy, growth and development are normal.
Key Words: Congenital lipoid adrenal hyperplasia

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