Article
Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
BMC endocrine disorders - 9 Nov 2020
Espinosa Reyes Tania Mayvel, Collazo Mesa Teresa, Lantigua Cruz Paulina Arasely, Agramonte Machado Adriana, Domínguez Alonso Emma, Falhammar Henrik
Abstract excerpt
BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive group of diseases. 21-Hydroxylase deficiency (21OHD) accounts for between 95 and 99% of all CAH cases. OBJECTIVES: To characterize the genotype of patients clinically diagnosed with 21OHD and to identify the most frequent mutations in the Cuban population. METHODS: Cross-sectional descriptive study that included all patients diagnosed with...
Topics
- Adrenal Hyperplasia, Congenital
- Biomarkers
- Cross-Sectional Studies
- Female
- Follow-Up Studies
- Genotype
- Humans
- Infant
- Infant, Newborn
- Male
- Mutation