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Cited by 17Adrenal Hormones and DisordersSexual Differentiation and DisordersMetabolism and Genetic Disorders

Lack of Mutations in P450scc Gene (CYP11A) in Six Japanese Patients with Congenital Lipoid Adrenal Hyperplasia

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Fukami, Maki, Sato, Seiji, Ogata, Tsutomu, Matsuo, Nobutake·1995·Clinical Pediatric Endocrinology
DOI 10.1297/cpe.4.39
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Abstract

Congenital lipoid adrenal hyperplasia (CLAN) results from deficient cholesterol side chain cleavage activity in both adrenal and gonadal mitochondria. Previous studies, however, have failed to disclose a defect in the P450scc gene in six patients studied to date.To investigate further a cause-and-effect relationship between a mutation in the P450scc gene and congenital lipoid adrenal hyperplasia phenotype, we studied the P450scc genes from five Japanese families, in which at least one member had the entity (six patients and 10 unaffected members), by direct sequencing of all the nine exons and by linkage analysis using restriction fragment length polymorphism and microsatellite polymorphism.No major rearrangement or minor mutation was found in the entire exonic sequences of the gene in the six patients. The particular copy of the P450scc gene as defined by the microsatellite polymorphism did not cosegregate with the disease in one informative family.We conclude that the primary lesion in congenital lipoid adrenal hyperplasia does not reside in the P450scc gene in most, if not all, of the patients.

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  • Studies of DNA from affected patients revealed that CYP11A1 gene encoding P450scc was normal, and in 1995 disease was termed 'congenital lipoid adrenal hyperplasia (lipoid CAH)', caused by mutations in StAR.

    “However, studies of DNA from affected patients revealed that the CYP11A1 gene encoding P450scc was normal21,22,23,24), and in 1995 this disease was more properly termed 'congenital lipoid adrenal hyperplasia (lipoid CAH)', and it was caused by mutations in the gene encoding StAR3,25).”

    From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [24]

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Research works printed but not linked: 2

  1. Degenhart HJ. Prader's syndrome (congen- ital lipoid adrenal hyperplasia). In: Pediatric and adolescent endocrinology 13. Adrenal diseases in childhood, Basel Karger, 1984: 125-44.
  2. Prader A, Siebenmann RE. Nebennierenin- suffizientz bei Kongenitaler Lipoidhyper- plasie der Nebennieren. Helv Paediatr Acta 1957;12: 569-95.

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Authors
Fukami, M., Sato, S., Ogata, T., & Matsuo, N.
Affiliations
Keio University (JP)
ORCID
Venue
Clinical Pediatric Endocrinology
Publisher
Japanese Society for Pediatric Endocrinology
Published
1995
Volume
4
Issue
1
Pages
39-46
ISSN
  • 0918-5739 (ISSN-L)
  • 1347-7358
DOI
10.1297/cpe.4.39
OpenAlex
W1979441491
Cited by
17
References
32
Citations by year
2025: 1 · 2016: 1 · 2014: 1
FWCI
1.56
Type
journal article
Language
en
Open access
Locations
Clinical Pediatric Endocrinology (publishedVersion)
Topics
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords
congenital lipoid adrenal hyperplasia, CYP11A, cholesterol side-chain cleavage, genetic mutations, linkage analysis, microsatellite polymorphism, restriction fragment length polymorphism, Japanese patients, adrenal mitochondria

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