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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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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 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]
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“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]
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“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]
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“Recently, some patients have been showed that they had late and mild clinical findings.”
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“These cases and studies constitute a new entity of 'nonclassic lipoid CAH'.”
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“Recently, some patients have showed that they had late and mild clinical findings with male external genitalia14).”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [14]
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Metadata
- 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.
- 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
- 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
- bronze
- doi.org
- 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
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › 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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