Article
Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.
The Journal of clinical endocrinology and metabolism - 1 Jan 2021
Merakou Christina, Fylaktou Irene, Sertedaki Amalia, Dracopoulou Maria, Voutetakis Antonis, Efthymiadou Alexandra, Christoforidis Athanasios, Dacou-Voutetakis Catherine, Chrysis Dionisios, Kanaka-Gantenbein Christina
Abstract excerpt
CONTEXT: Isolated congenital hypoaldosteronism presents in early infancy with symptoms including vomiting, severe dehydration, salt wasting, and failure to thrive. The main causes of this rare autosomal recessive disorder is pathogenic variants of the CYP11B2 gene leading to aldosterone synthase deficiency. OBJECTIVE: To investigate the presence of CYP11B2 pathogenic variants in a cohort of patients with a...
Topics
- Addison Disease
- Cohort Studies
- Cytochrome P-450 CYP11B2
- DNA Mutational Analysis
- Female
- Genetic Association Studies
- Greece
- Heterozygote
- Homozygote
- Humans