The DOI matches its Crossref record; 266 of the 272 references it cites were found in a registry or an index.
Disorders in the initial steps of steroid hormone synthesis
Abstract
Steroidogenesis begins with cellular internalization of low-density lipoprotein particles and subsequent intracellular processing of cholesterol. Disorders in these steps include Adrenoleukodystrophy, Wolman Disease and its milder variant Cholesterol Ester Storage Disease, and Niemann-Pick Type C Disease, all of which may present with adrenal insufficiency. The means by which cholesterol is directed to steroidogenic mitochondria remains incompletely understood. Once cholesterol reaches the outer mitochondrial membrane, its delivery to the inner mitochondrial membrane is regulated by the steroidogenic acute regulatory protein (StAR). Severe StAR mutations cause classic congenital lipoid adrenal hyperplasia, characterized by lipid accumulation in the adrenal, adrenal insufficiency, and disordered sexual development in 46,XY individuals. The lipoid CAH phenotype, including spontaneous puberty in 46,XX females, is explained by a two-hit model. StAR mutations that retain partial function cause a milder, non-classic disease characterized by glucocorticoid deficiency, with lesser disorders of mineralocorticoid and sex steroid synthesis. Once inside the mitochondria, cholesterol is converted to pregnenolone by the cholesterol side-chain cleavage enzyme, P450scc, encoded by the CYP11A1 gene. Rare patients with mutations of P450scc are clinically and hormonally indistinguishable from those with lipoid CAH, and may also present as milder non-classic disease. Patients with P450scc defects do not have the massive adrenal hyperplasia that characterizes lipoid CAH, but adrenal imaging may occasionally fail to distinguish these, necessitating DNA sequencing.
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“CYP11A1 defects were once considered incompatible with term pregnancy; however, more than 30 cases of such defects have been reported (40).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [40]
Citations
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Congenital adrenal hyperplasia
El-Maouche, D., Arlt, W., & Merke, D. P. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31431-9 · Cited by 669
Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
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Self-citationGenetics of congenital adrenal hyperplasia
Krone, N., & Arlt, W. (2009) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2008.10.014 · Cited by 312
Steroidogenesis: Unanswered Questions
Miller, W. L. (2017) · Trends in Endocrinology & Metabolism · doi:10.1016/j.tem.2017.09.002 · Cited by 226
Self-citationMitochondrial Function in Modulating Human Granulosa Cell Steroidogenesis and Female Fertility
Urs, D. B. S., Wu, W.-H., Komrsková, K., Manaskova-Postlerova, P., Lin, Y., Tzeng, C., & Kao, S. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21103592 · Cited by 194
Metadata
- Authors
- Miller, W. L.
- Affiliations
- University of California, San Francisco (US)
- Corresponding author
- Miller, Walter L.
- ORCID
- Miller, Walter L.
- Venue
- The Journal of Steroid Biochemistry and Molecular Biology
- Publisher
- Elsevier BV
- Published
- 2017-01
- Volume
- 165
- Issue
- Pt A
- Pages
- 18-37
- ISSN
- 0960-0760 (ISSN-L)
- OpenAlex
- W2298595356
- Semantic Scholar
- fe8733103b7e517d495e8f1bac7db018713287f1
- Cited by
- 205
- References
- 272
- Citations by year
- 2026: 6 · 2025: 23 · 2024: 22 · 2023: 34 · 2022: 23 · 2021: 22 · 2020: 21 · 2019: 15 · 2018: 18 · 2017: 11
- FWCI
- 2.53
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Steroid Biochemistry and Molecular Biology (publishedVersion)
- PubMed (publishedVersion)
- 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
- steroidogenesis, LDL receptor, adrenoleukodystrophy, Wolman disease, cholesterol ester storage disease, Niemann-Pick disease type C, adrenal insufficiency, steroidogenic acute regulatory protein, congenital lipoid adrenal hyperplasia, cholesterol side-chain cleavage enzyme, P450scc, CYP11A1, adrenal hyperplasia, adrenal imaging, glucocorticoid deficiency, mineralocorticoid deficiency, sex steroid synthesis, disorders of sex development
- MeSH terms
- Steroidogenic Acute Regulatory Protein, Adrenal Glands, Adrenal Hyperplasia, Congenital, Animals, Cholesterol, Cholesterol Side-Chain Cleavage Enzyme, Computer Simulation, Cytochrome P-450 Enzyme System, Female, Glucocorticoids, Humans, Male, Mitochondria, Mutation, Phosphoproteins, Steroids, Mutagenesis, Sequence Analysis, DNA, Disorder of Sex Development, 46,XY
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