Monogenic Disorders of Adrenal Steroidogenesis.
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ABSTRACT:
SUBMITTER: Baranowski ES
PROVIDER: S-EPMC6067656 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Publications
Monogenic Disorders of Adrenal Steroidogenesis.
Baranowski Elizabeth S ES Arlt Wiebke W Idkowiak Jan J
Hormone research in paediatrics 20180606 5
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 cli ...[more]
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