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hrp0092rfc13.4 | Adrenals and HP Axis | ESPE2019

Loss-Of-Function NNT Mutations Impair Antioxidants Mechanisms and Decreases Cortisol Secretion in Patients with Famililar Glucocorticoid Deficieny

Faccioli Bodoni Aline , Coeli-Lacchini Fernanda , Gebenlian Juliana , Sobral Lays , Moreira Ayrton , Elias Lucila , Silva Wilson , de Catro Margaret , Leopoldino Andréia , Antonini Sonir

Background: The mitochondrial enzyme nicotinamide nucleotide transidrogenase (NNT) is essential in the antioxidant defense mechanisms and appears to be essential to the stages of adrenal steroidogenesis that occur inside the mitochondria.Aim: To characterize how mutations in NNT gene impair adrenal steroidogenesis resulting in familial glucocorticoid deficiency (FGD).Methods: Genom...

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ESPE Abstracts

Loss-Of-Function NNT Mutations Impair Antioxidants Mechanisms and Decreases Cortisol Secretion in Patients with Famililar Glucocorticoid Deficieny

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