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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| Format: | Article |
| Language: | English |
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Galenos Yayincilik
2021-09-01
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| Series: | JCRPE |
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| Online Access: |
http://www.jcrpe.org/archives/archive-detail/article-preview/co-existence-of-congenital-adrenal-hyperplasia-and/43020
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