Projects per year
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.
Original language | English |
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Pages (from-to) | 292–310 |
Journal | Hormone Research in Paediatrics |
Volume | 89 |
Early online date | 6 Jun 2018 |
DOIs | |
Publication status | Published - 2018 |
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Dive into the research topics of 'Monogenic disorders of adrenal steroidogenesis'. Together they form a unique fingerprint.Projects
- 1 Finished
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Steroid Profiling as a Biomarker Tool in the Diagnosis and Monitoring of Adrenal Tumours
Arlt, W. & Stewart, P.
2/03/09 → 29/02/12
Project: Research Councils