Cited by 205Adrenal Hormones and DisordersSexual Differentiation and DisordersMetabolism and Genetic Disorders

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Disorders in the initial steps of steroid hormone synthesis

Miller, Walter L.·2017·The Journal of Steroid Biochemistry and Molecular Biology

DOI 10.1016/j.jsbmb.2016.03.009

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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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Self-citation
Non-classic lipoid adrenal hyperplasia: clinical cases report
Григорьевна, С. И., Степановна, Д. Е., Мнировна, Ш. Е., Sozaeva, L., Petryaykina, E. E., & Tiulpakov, A. N. (2026) · Problems of Endocrinology · doi:10.14341/probl13589
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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)
DOI: 10.1016/j.jsbmb.2016.03.009
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
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
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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Disorders in the initial steps of steroid hormone synthesis

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