Molecular and clinical characterization of Korean patients with congenital lipoid adrenal hyperplasia.

doi:10.1515/jpem.1998.11.6.707

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Article

Molecular and clinical characterization of Korean patients with congenital lipoid adrenal hyperplasia.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000

Yoo H W, Kim G H

Abstract excerpt

Congenital lipoid adrenal hyperplasia (CLAH) is a rare autosomal recessive disorder of steroid biosynthesis, caused by a molecular defect in the steroidogenic acute regulatory protein (StAR). Patients with CLAH usually manifest severe salt wasting, hypovolemia, enlargement of the adrenal glands a...

Topics

Adrenal Hyperplasia, Congenital
Female
Gene Frequency
Humans
Infant
Infant, Newborn
Korea
Lipid Metabolism
Male
Mutation
Phosphoproteins
Pigmentation Disorders
Shock
Steroidogenic Acute Regulatory Protein

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