The DOI matches its Crossref record; 28 of the 29 references it cites were found in a registry or an index.
Nonclassic Congenital Lipoid Adrenal Hyperplasia: A New Disorder of the Steroidogenic Acute Regulatory Protein with Very Late Presentation and Normal Male Genitalia
Open accessAbstract
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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In the citing paper
“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.”
From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [14]
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“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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“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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Cites
Regulation of the acute production of steroids in steroidogenic cells
STOCCO, D. M., & CLARK, B. J. (1996) · Endocrine Reviews · doi:10.1210/edrv-17-3-221 · Cited by 1,057
Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis
Lin, D., Sugawara, T., Strauss, J. F., Clark, B. J., Stocco, D. M., Saenger, P., Rogol, A., & Miller, W. L. (1995) · Science · doi:10.1126/science.7892608 · Cited by 1,030
Self-citationThe pathophysiology and genetics of congenital lipoid adrenal hyperplasia
Bose, H. S., Sugawara, T., Strauss, J. F., & Miller, W. L. (1996) · New England Journal of Medicine · doi:10.1056/nejm199612193352503 · Cited by 676
Self-citationRapid regulation of steroidogenesis by mitochondrial protein import
Bose, H. S., Lingappa, V. R., & Miller, W. L. (2002) · Nature · doi:10.1038/417087a · Cited by 357
Self-citationArakane, F., Sugawara, T., Nishino, H., Liu, Z., Holt, J. A., Pain, D., Stocco, D. M., Miller, W. L., & Strauss, J. F. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.24.13731 · Cited by 304
Self-citationHasegawa, T., Zhao, L., Caron, K. M., Majdic, G., Suzuki, T., Shizawa, S., Sasano, H., & Parker, K. L. (2000) · Molecular Endocrinology · doi:10.1210/mend.14.9.0515 · Cited by 263
The active form of the steroidogenic acute regulatory protein, StAR, appears to be a molten globule
Bose, H. S., Whittal, R. M., Baldwin, M. A., & Miller, W. L. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.13.7250 · Cited by 227
Self-citationArtemenko, I. P., Zhao, D., Hales, D. B., Hales, K. H., & Jefcoate, C. R. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m107815200 · Cited by 217
Tajima, T., Fujieda, K., Kouda, N., Nakae, J., & Miller, W. L. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.8.7748 · Cited by 196
Self-citationNakae, J. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.4.571 · Cited by 188
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1 of the 29 references couldn’t be matched to a known paper.
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The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
Miller, W. L., & Auchus, R. J. (2011) · Endocrine Reviews · doi:10.1210/er.2010-0013 · Cited by 2,458
Self-citationCongenital adrenal hyperplasia
El-Maouche, D., Arlt, W., & Merke, D. P. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31431-9 · Cited by 669
Early steps in steroidogenesis: intracellular cholesterol trafficking
Miller, W. L., & Bose, H. S. (2011) · Journal of Lipid Research · doi:10.1194/jlr.r016675 · Cited by 593
Self-citationCongenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556
Self-citationSteroid hormone synthesis in mitochondria
Miller, W. L. (2013) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2013.04.014 · Cited by 510
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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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