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ea0049ep7 | Adrenal cortex (to include Cushing's) | ECE2017

Molecular variability determines subtle adrenal biosynthetic defect in non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Mermejo Livia , Coeli-Lacchini Fernanda , Turatti Wendy , Elamid Marcia , Parente Renata , Martinelli Carlos , Antonini Sonir , Castro Margaret , Moreira Ayrton

There is a clinical spectrum of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NC-CAH). In addition, CYP21A2 gene mutations analysis present in homozygosis or as compound heterozygosis.Objectives: To evaluate the relationship between the genotype and biochemical profiles and also compare with clinical severity in NC-CAH.Patients and methods: Clinical, hormonal and molecular data of 57 patien...

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Endocrine Abstracts

Molecular variability determines subtle adrenal biosynthetic defect in non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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