Article
Clinical, Molecular, Functional, and Structural Characterization of CYP17A1 Mutations in Brazilian Patients with 17-Hydroxylase Deficiency.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme - 1 Mar 2020
Coeli-Lacchini Fernanda Borchers, Mermejo Livia M, Bodoni Aline Faccioli, Elias Lucila Leico Kagohara, Silva Wilson Araújo, Antonini Sonir R, Moreira Ayrton C, de Castro Margaret
Abstract excerpt
17-Hydroxylase-deficiency (17OHD) is a rare form of congenital adrenal hyperplasia. The aim of the work was to study clinical, biochemical, and the follow up of 17OHD patients and evaluate the function and structure of CYP17A1 mutations. Brazilian patients (three 46, XX and four 46, XY; 17±1.9 years) with combined 17-hydroxylase/17,20-lyase deficiency were evaluated. CYP17A1 gene was sequenced. Functional...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.