English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Congenital adrenal hyperplasia is an autosomal recessive disorder caused by the loss of one of five steroidogenic enzymes affecting cortisol synthesis. In deficiency of 11 β- hydroxylase, 11-Deoxycortisol cannot be converted to cortisol and deoxycorticosterone cannot be converted to corticosterone. We present our 11β-hydroxylase deficiency case with hypokalemia and with a novel mutation. A 20-year-old male patient who’d been on steroid replacement treatment for adrenal insufficiency for 18 years was admitted with spasm, dyspnea and syncope attacks. On laboratory examination his potassium level was 1.4 meq/L and creatinine kinase and myoglobin levels were increased indicating rhabdomyolysis. Potassium infusion was started. 11 β- hydroxylase deficiency related congenital adrenal hyperplasia was diagnosed as the patient had adrenal insufficiency, hypertension and hypokalemia. Spironolactone treatment was started in addition to potassium infusion. Potassium levels were back to normal in the follow-up. Hypokalemia-related rhabdomyolysis regressed. In CYP11B1 whole genome sequencing analysis, p.A199P and p.R448H compound heterozygous mutation was detected. Thus, these two compound heterozygous mutations may be associated with the severity of the disease.

A novel CYP11B1 mutation in a Turkish patient with 11β-hydroxylase deficiency: An association with the severe hypokalemia leading to rhabdomyolysis