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Article

First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jun 2016

Pomahačová Renata, Sýkora Josef, Zamboryová Jana, Paterová Petra, Varvařovská Jana, Šubrt Ivan, Dort Jiří, Dortová Eva

Abstract excerpt

We characterized a case of congenital adrenal insufficiency caused by cholesterol side-chain cleavage enzyme (P450scc) deficiency. The patient presented after birth with cardiopulmonary instability, hyponatremia, hyperkalemia, hypoglycemia and metabolic acidosis. We confirmed primary adrenal insufficiency. There were no signs of the external genitalia virilism. The replacement therapy with glucocorticoids and...

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PMID: 27008691
DOI: 10.1515/jpem-2015-0255

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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