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Cited by 194Adrenal Hormones and DisordersSexual Differentiation and DisordersMetabolism and Genetic Disorders

Nonclassic Congenital Lipoid Adrenal Hyperplasia: A New Disorder of the Steroidogenic Acute Regulatory Protein with Very Late Presentation and Normal Male Genitalia

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Baker, Bo Y., Lin, Lin, Kim, Chan J., Raza, Jamal, Smith, Claire P., Miller, Walter L., Achermann, John C.·2006·The Journal of Clinical Endocrinology & Metabolism
DOI 10.1210/jc.2006-1565PMC PMC1865081
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Abstract

CONTEXT: Lipoid congenital adrenal hyperplasia is a severe disorder of adrenal and gonadal steroidogenesis caused by mutations in the steroidogenic acute regulatory protein (StAR). Affected children typically present with life-threatening adrenal insufficiency in early infancy due to a failure of glucocorticoid (cortisol) and mineralocorticoid (aldosterone) biosynthesis, and 46,XY genetic males have complete lack of androgenization and appear phenotypically female due to impaired testicular androgen secretion in utero. OBJECTIVE: The objective of this study was to investigate whether nonclassic forms of this condition exist. PATIENTS AND METHODS: Sequence analysis of the gene encoding StAR was undertaken in three children from two families who presented with primary adrenal insufficiency at 2-4 yr of age; the males had normal genital development. Identified mutants were tested in a series of biochemical assays. RESULTS: DNA sequencing identified homozygous StAR mutations Val187Met and Arg188Cys in these two families. Functional studies of StAR activity in cells and in vitro and cholesterol-binding assays showed these mutants retained approximately 20% of wild-type activity. CONCLUSIONS: These patients define a new disorder, nonclassic lipoid congenital adrenal hyperplasia, and represent a new cause of nonautoimmune Addison disease (primary adrenal failure).

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  • Most patients with nonclassic lipoid CAH carry StAR mutation R188C, although other mutations can cause this phenotype.

    “Most of these patients carry StAR mutation R188C, although other mutations can cause this phenotype (116 -118).”

    From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [116]

    The Discussion reports Arg188Cys (R188C) in two of the study’s three patients and Val187Met in the third, supporting both mutations as causes of nonclassic lipoid CAH. It does not establish that most patients with the condition generally carry R188C; that proportion applies only to this small group. (LLM, conf=0.85)

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  • Nonclassic lipoid CAH is a new form of nonautoimmune Addison disease that presents with or without salt loss.

    “Nonclassic lipoid CAH is a new form of nonautoimmune Addison disease that presents with or without salt loss14).”

    From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [14]

  • Although a small number of patients with StAR mutations have normal-sized adrenal glands, this may be useful to distinguish these disorders.

    “Although a small number of patients with StAR mutations have normal-sized adrenal glands14,32), this may be useful to distinguish these disorders.”

    From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [14]

  • Some patients with lipoid CAH have late and mild clinical findings.

    “Recently, some patients have been showed that they had late and mild clinical findings.”

    From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [14]

  • These cases and studies constitute a new entity of 'nonclassic lipoid CAH'.

    “These cases and studies constitute a new entity of 'nonclassic lipoid CAH'.”

    From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [14]

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Authors
Baker, B. Y., Lin, L., Kim, C. J., Raza, J., Smith, C. P., Miller, W. L., & Achermann, J. C.
Affiliations
  • University of California, San Francisco (US)
  • National Health Service (GB)
Corresponding author
  • Miller, Walter L.
  • Achermann, John C.
ORCID
Venue
The Journal of Clinical Endocrinology & Metabolism
Publisher
The Endocrine Society
Published
2006-12
Volume
91
Issue
12
Pages
4781-4785
ISSN
  • 0021-972X (ISSN-L)
  • 1945-7197
DOI
10.1210/jc.2006-1565
PMC
PMC1865081
OpenAlex
W2021997225
Cited by
194
References
29
Citations by year
2026: 5 · 2025: 6 · 2024: 10 · 2023: 9 · 2022: 10 · 2021: 11 · 2020: 11 · 2019: 5 · 2018: 8 · 2017: 9 · 2016: 8 · 2015: 12 · 2014: 15 · 2013: 13 · 2012: 11
FWCI
6.11
Type
journal article
Language
en
Open access
Locations
  • The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
  • UCL Discovery (University College London) (submittedVersion)
Funders
  • Wellcome Trust (068061)
  • University of Manchester
  • National Institutes of Health
  • National Institute of Diabetes and Digestive and Kidney Diseases (DK-37922, R01DK037922)
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
steroidogenic acute regulatory protein, Addison's disease, adrenal steroidogenesis
MeSH terms
Steroidogenic Acute Regulatory Protein, Addison Disease, Adrenal Hyperplasia, Congenital, Animals, Base Sequence, Chlorocebus aethiops, Child, Preschool, DNA Mutational Analysis, Female, Genitalia, Male, Humans, Male, Models, Molecular, Phosphoproteins, Transfection, Protein Structure, Secondary, COS Cells, Mutation, Missense

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