Endocrine Abstracts

Context: Premature ovarian insufficiency (POI) affects approximately 1-3% of women. Clinical presentations are heterogeneous and the underlying etiologies remain unknown in the majority of cases.Objective/aim: To characterize presentations of POI and to evaluate the distribution of underlying etiologies in women with newly diagnosed POI of unknown cause.Design: Prospective study of 100 women with newly diagnosed POI. Autoimmunity w...

Background: Autoimmune polyendocrine syndrome type 1 (APS1) is a disorder caused by mutations of the autoimmune regulator (AIRE) gene, that controls central tolerance. Tetrahydrobiopterin (BH4)-dependent hydroxylases, consisting of tryptophan hydroxylase (TPH1 and TPH2), tyrosine hydroxylase (TH) and phenylalanine hydroxylase (PAH) are commonly targeted autoantigens. Nevertheless, detailed characterization of their epitopes and independent roles of TPH isoforms has ...