title: First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic.
abstract: 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 mineralocorticoids led to normal laboratory results. At the age of 12 years, we confirmed hypergonadotropic hypogonadism, which revealed disorder of steroidogenesis in the adrenal glands and in the gonads. The enzymatic block was found at the beginning of steroidogenesis. The mutation was confirmed in the CYP11A1 gene. The patient is compound heterozygote for the novel CYP11A1 missense mutation c.412G>A (p.Gly138Arg) in exon 2 and frameshift mutation c.508_509delCT (p.Leu170Valfs*30) in exon 3. The CYP11A1: c.412G>A (p.Gly138Arg) was predicted as pathogenic by in silico analysis. So far, only 19 patients with CYP11A1 mutations causing P450scc deficiency have been reported worldwide. There are no related reports in the Czech Republic.
authors.forename: Renata
authors.initials: R
authors.lastname: Pomahačová
authors.forename: Josef
authors.initials: J
authors.lastname: Sýkora
authors.forename: Jana
authors.initials: J
authors.lastname: Zamboryová
authors.forename: Petra
authors.initials: P
authors.lastname: Paterová
authors.forename: Jana
authors.initials: J
authors.lastname: Varvařovská
authors.forename: Ivan
authors.initials: I
authors.lastname: Šubrt
authors.forename: Jiří
authors.initials: J
authors.lastname: Dort
authors.forename: Eva
authors.initials: E
authors.lastname: Dortová
mesh_terms: D000309:Adrenal Insufficiency / Q000151:congenital* / Q000235:genetics; D002648:Child; D002786:Cholesterol Side-Chain Cleavage Enzyme / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation
chemical_list: D002786:Cholesterol Side-Chain Cleavage Enzyme