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- W2807029108 endingPage "310" @default.
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- W2807029108 abstract "Disorders of adrenal steroidogenesis comprise autosomal recessive conditions affecting steroidogenic enzymes of the adrenal cortex. Those are located within the 3 major branches of the steroidogenic machinery involved in the production of mineralocorticoids, glucocorticoids, and androgens. This mini review describes the principles of adrenal steroidogenesis, including the newly appreciated 11-oxygenated androgen pathway. This is followed by a description of pathophysiology, biochemistry, and clinical implications of steroidogenic disorders, including mutations affecting cholesterol import and steroid synthesis, the latter comprising both mutations affecting steroidogenic enzymes and co-factors required for efficient catalysis. A good understanding of adrenal steroidogenic pathways and their regulation is crucial as the basis for sound management of these disorders, which in the majority present in early childhood." @default.
- W2807029108 created "2018-06-13" @default.
- W2807029108 creator A5006177015 @default.
- W2807029108 creator A5010324154 @default.
- W2807029108 creator A5067312879 @default.
- W2807029108 date "2018-01-01" @default.
- W2807029108 modified "2023-09-26" @default.
- W2807029108 title "Monogenic Disorders of Adrenal Steroidogenesis" @default.
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