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A late 17α-hydroxylase deficiency diagnosis that leads to the discovery of a new CYP17 gene mutation

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17α-Hydroxylase deficiency is a rare form of congenital adrenal hyperplasia. It leads to a reduced production of cortisol and sex steroids and thus an increase in adrenocorticotrophic hormone and gonadotrophins levels. High adrenocorticotrophic hormone levels... ...