Blar i Department of Clinical Science på emneord "congenital adrenal hyperplasia"
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Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease
(Peer reviewed; Journal article, 2019-09-27)Background: Underlying causes of adrenal insufficiency include congenital adrenal hyperplasia (CAH) and autoimmune adrenocortical destruction leading to autoimmune Addison's disease (AAD). Here, we report a patient with a ... -
Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia
(Peer reviewed; Journal article, 2014)In about 95% of cases, congenital adrenal hyperplasia (CAH) is caused by mutations in CYP21A2 gene encoding steroid 21-hydroxylase (21OH). Recently, we have reported four novel CYP21A2 variants in the Norwegian population ...