First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic
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Renata Pomahačová
,
Josef Sýkora
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.
References
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©2016 by De Gruyter
Artikel in diesem Heft
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Artikel in diesem Heft
- Frontmatter
- Review
- Medullary thyroid carcinoma: a review on ethical considerations in treatment of children
- Original Articles
- Monocyte chemoattractant protein 1 and macrophage migration inhibitory factor in children with type 1 diabetes
- Organ-specific autoimmunity in relation to clinical characteristics in children with long-lasting type 1 diabetes
- Seasonality of diagnosis of type 1 diabetes mellitus in the Netherlands (Young Dudes-2)
- Health-related quality of life in children and adolescents with type 1 diabetes mellitus from Montenegro: relationship to metabolic control
- Relation of fetuin A levels with cardiac, subcutaneous lipid accumulation and insulin resistance parameters in Turkish obese children
- Prooxidant-antioxidant balance in patients with phenylketonuria and its correlation to biochemical and hematological parameters
- Serum vaspin concentrations in girls with anorexia nervosa
- Effect of intramuscular cholecalciferol megadose in children with nutritional rickets
- Focus on BMI and subclinical hypothyroidism in adolescent girls first examined for amenorrhea or oligomenorrhea. The emerging role of polycystic ovary syndrome
- Absence of a relationship between thyroid hormones and vitamin D levels
- Parathyroid hormone-ionized calcium dynamics over the first year of life
- Biochemical markers of bone turnover in children with clinical bone fragility
- Adipocytokines and bone metabolism markers in relation to bone mineral values in early pubertal boys with different physical activity
- Bone mineral density in young Chilean patients with type 1 diabetes mellitus
- Case Reports
- A case of mature teratoma with a falsely high serum estradiol value measured with an immunoassay
- Leigh syndrome associated with a novel mutation in the COX15 gene
- More than one way to skin a thyroid. Managing pediatric hypothyroidism with weekly intramuscular levothyroxine
- First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic
- Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome
- Corrigendum
- Corrigendum to: Exposure to sunshine early in life prevented development of type 1 diabetes in Danish boys
