Congenital adrenal hyperplasia - current insights in pathophysiology, diagnostics and management
| Autor: | Nicole Reisch, Walter L. Miller, Wiebke Arlt, Angela Huebner, Stefan A. Wudy, Phyllis W. Speiser, Nike M. M. L. Stikkelbroeck, Richard J. Auchus, Hedi L Claahsen-van der Grinten, Anna Nordenström, Deborah P. Merke, Perrin C. White, Nils Krone, S Faisal Ahmed, Henrik Falhammar, Barbara B.M. Kortmann, Christa E. Flück, David E. Sandberg, Agustini Utari, Leonardo Guasti, Philippe Touraine |
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| Rok vydání: | 2022 |
| Předmět: |
Hydrocortisone
medicine.drug_class Endocrinology Diabetes and Metabolism Review Disease Steroid biosynthesis Bioinformatics chemistry.chemical_compound Neonatal Screening Endocrinology medicine Humans Endocrine system Congenital adrenal hyperplasia Aldosterone Adrenal Hyperplasia Congenital Adrenal cortex business.industry Infant Newborn Vascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16] medicine.disease medicine.anatomical_structure Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10] chemistry Mineralocorticoid Mutation Steroid 21-Hydroxylase business Glucocorticoid medicine.drug |
| Zdroj: | Endocrine Reviews, 43, 91-159 Endocrine Reviews, 43, 1, pp. 91-159 Endocr Rev |
| ISSN: | 0163-769X |
| Popis: | Contains fulltext : 244176.pdf (Publisher’s version ) (Closed access) Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to chronic overstimulation of the adrenal cortex and accumulation of precursors proximal to the blocked enzymatic step. The most common form of CAH is caused by steroid 21- hydroxylase deficiency due to mutations in CYP21A2. Since the last publication summarizing CAH in Endocrine Reviews in 2000 there have been numerous new developments. These include more detailed understanding of steroidogenic pathways, refinements in neonatal screening, improved diagnostic measurements utilizing chromatography and mass spectrometry coupled with steroid profiling, and improved genotyping methods. Clinical trials of alternative medications and modes of delivery have been recently completed or are under way. Genetic and cell-based treatments are being explored. A large body of data concerning long-term outcomes in patients affected by CAH, including psychosexual well-being, has been enhanced by the establishment of disease registries. This review provides the reader with current insights in congenital adrenal hyperplasia with special attention to these new developments. |
| Databáze: | OpenAIRE |
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