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Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants
Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), usually due to biallelic variants in CYP21A2. Classical 21-hydroxylase deficiency is characterised by virilisation of the external genitalia in females and hypocortisolism. Hyponatremia and hyperkalem...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Galenos Publishing
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8388050/ https://www.ncbi.nlm.nih.gov/pubmed/33389921 http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0219 |