Michael Waterman
Faculty Member
Last active: 2/12/2015

No mutation in cytochrome P450 side chain cleavage in a patient with congenital lipoid adrenal hyperplasia.

Sakai Y, Yanase T, Okabe Y, Hara T, Waterman MR, Takayanagi R, Haji M, Nawata H
J Clin Endocrinol Metab. 1994 79 (4): 1198-201

PMID: 7962293 · DOI:10.1210/jcem.79.4.7962293

Molecular basis of lipoid adrenal hyperplasia (lipoid CAH) in a Japanese patient was investigated. A 46XY Japanese female patient was clinically diagnosed as having lipoid CAH based on her clinical history of adrenal crisis at birth and the low basal concentrations of cortisol, aldosterone, adrenal androgens and testosterone in serum. In vitro studies of testicular mitochondrial enzymes confirmed a specific impairment of cholesterol side chain cleavage (SCC) activity. However, in spite of the virtual reduction of SCC activity, the amounts of immunodetectable P450scc, adrenodoxin reductase, and adrenodoxin in testicular mitochondria were almost same as those of normal testis. Furthermore, the size of each protein was similar to that of normal testis. Enzymatic amplification of the complementary DNA encoding P450scc from the patient's testis RNA and its nucleotide analysis by direct sequencing revealed no mutation. These results indicate that defective P450scc is not the lesion in this patient, confirming a previous report showing no P450scc mutations in patients with lipoid CAH. The exact lesion causing lipoid CAH in this patient is currently unknown.

MeSH Terms (17)

Adolescent Adrenal Hyperplasia, Congenital Adrenodoxin Base Sequence Cholesterol Side-Chain Cleavage Enzyme Disorders of Sex Development Female Ferredoxin-NADP Reductase Hormones Humans Male Middle Aged Mitochondria Molecular Probes Molecular Sequence Data Mutation Testis

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