Endocrine Abstracts

Background: Classical congenital adrenal hyperplasia (CAH) is diagnosed mainly in newborns. While patients with salt wasting form cannot survive without timely diagnosis, those with simple virilizing or nonclassical may be diagnosed even in advanced age.Aim: To present clinical, biochemical, radiological and genetic characteristics of series of CAH patients diagnosed in advanced adulthood.Material and methods: Eight patients (F=5, ...

Backgroud: ACTH stimulation test is considered the basic diagnostic tool in the diagnosis of nonclassical congenital adrenal hyperplasia due to 21 hydroxylase deficiency (CAH). The cut off of 17OHP stimulation recommended for diagnosis is 10 ng/ml.Aim: To assess whether the recommended threshold of 17OHP after ACTH stimulation confirms nonclassical CAH among woman with hyperandrogenism and elevated basal 17OHP level.Material and Me...

The steroid 17α-hydroxylase enzyme CYP17A1 exerts two distinct activities that catalyze conversion reactions at key branch points in steroidogenesis. CYP17A1 17α-hydroxylase activity is the key step in cortisol synthesis whereas CYP17A1 17, 20 lyase activity generates sex steroid precursors. Inactivating CYP17A1 mutations result in CYP17A1 deficiency (17OHD), a rare form of congenital adrenal hyperplasia that classically presents with combined glucocorticoid and sex ...

P450 oxidoreductase (POR) transfers electrons to all microsomal P450 enzymes including CYP21A2 and CYP17A1, key enzymes of glucocorticoid and andogen synthesis, respectively. Mutant POR results P450 oxidoreductase deficiency (ORD) manifesting with glucocorticoid deficiency and disordered sex development in both sexes. Neonatal presentation with undervirilisation in boys and virilisation in girls is well described. However, there is a paucity of data on the pubertal phenotype i...

Steroid 17α-hydroxylase (CYP17A1) exerts two distinct activities that catalyze conversion reactions at key branch points in steroidogenesis. CYP17A1 17α-hydroxylase activity is the key step in cortisol synthesis whereas CYP17A1 17,20 lyase activity generates sex steroid precursors. Inactivating CYP17A1 mutations result in CYP17A1 deficiency (17OHD), a rare form of congenital adrenal hyperplasia that classically presents with combined glucocorticoid and sex steroid de...