Abstract
The early defects of steroidogenesis, deficiencies of steroidogenic acute regulatory protein (StAR) and cholesterol 20-22 lyase, are severe forms of congenital adrenal hyperplasia (CAH) characterised by a complete or partial inability of the adrenal glands to synthesise glucocorticoids, mineralocorticoids and adrenal androgens. Low levels of their respective metabolites are therefore observed in the urine steroid profiles of patients with either condition. Steroid synthesis in the gonads is also impaired. While no characteristic markers of disease are present, a urine steroid profile is useful in order to exclude other forms of CAH.
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Further Reading
StAR-Related Domain
Tsuijhita Y, Hurley JH. Structure and lipid transport mechanism of a StAR-related domain. Nat Struct Biol. 2000;7:408–14.
Steroid Synthesis from Cholesterol
Miller WL. Role of mitochondria in steroidogenesis. Endocr Dev. 2011;20:1–19.
Strushkevich N, MacKenzie F, Cherkesova T, Grabovec I, Usanov S, Park H-W. Structural basis for pregnenolone biosynthesis by the mitochondrial monooxygenase system. Proc Natl Acad Sci U S A. 2011;108(25):10139–43.
Genetics
Tee MK, Abramsohn M, Loewenthal N, et al. Varied clinical presentation of seven patients with mutations in the CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc. J Clin Endocrinol Metab. 2013;98:713–20.
Pathophysiology
King SR, Bhangoo A, Stocco DM. Functional and physiological consequences of StAR deficiency: role in lipoid congenital adrenal hyperplasia. Endocr Dev. 2011;20:47–53.
Hauffa B, Hiort O. P450 side-chain cleavage deficiency—a rare cause of congenital adrenal hyperplasia. Endocr Dev. 2010;20:54–62.
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Wilkes, E.H., Woodward, G.M. (2019). Early Defects of Steroidogenesis: Steroidogenic Acute Regulatory Protein and Cholesterol 20-22 Lyase Deficiency. In: Rumsby, G., Woodward, G. (eds) Disorders of Steroidogenesis. Springer, Cham. https://doi.org/10.1007/978-3-319-96364-8_8
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DOI: https://doi.org/10.1007/978-3-319-96364-8_8
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