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