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...
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