hrp0086p1-p729 | Pituitary and Neuroendocrinology P1 | ESPE2016

Clinical and Mutational Spectrum in Slovenian Patients with Hypogonadotropic Hypogonadism

Stefanija Magdalena Avbelj , Obreza Tamara , Pfeifer Marija , Kovac Jernej , Battelino Tadej , Podkrajsek Katarina Trebusak

Background: Congenital hypogonadotropic hypogonadism (HH) is a rare but clinically and genetically heterogeneous disease characterized by an absent or incomplete puberty and infertility. The association of HH with hyposmia or anosmia is defined as Kallmann syndrome. Molecular genetic testing of HH is valuable, as it can prompt the treatment in adolescence.Objective and hypotheses: To identify causative variants in genes associated with HH in a cohort of ...

hrp0086p1-p917 | Thyroid P1 | ESPE2016

Hypercholesterolemia in Two Siblings with THRB Mutation

Jakic Maja , Groselj Urh , Stefanija Magdalena Avbelj , Tansek Mojca Zerjav , Podkrajsek Katarina Trebusak , Battelino Tadej

Background: Resistance to thyroid hormones (RTH) is a rare disease, characterized by reduced sensitivity of target tissues to thyroid hormones. Pathognomonically, thyroid hormones are moderately elevated, whereas TSH levels are inappropriately normal or elevated. Over 100 thyroid hormone receptor beta (THRB) mutations have been reported, which are found in around 85% of RTH cases. Hypercholesterolemia was not previously reported in RTH patients....