hrp0097p1-478 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Whole-exome sequencing results in patients with congenital hyperinsulinism.

Melikyan Maria , Gubaeva Diliara , Bolmasova Anna , Kolodkina Anna , Tiulpakov Anatoly , Bogdanov Viktor , Peterkova Valentina

Background: Congenital hyperinsulinism (CHI) is a heterogeneous group of disorders, characterized by hypoglycemia due to inappropriate insulin secretion. Despite huge progress in understanding the pathophysiology of CHI, its etiology remains unknown in about 30% of cases.Aim: To perform whole-exome sequencing in patients with CHI.Results: A total of 314 patients with congenital hyp...

hrp0095p1-197 | Thyroid | ESPE2022

A familial case of PAX8 gene variant with incomplete penetrance

Shreder Ekaterina , Vadina Tatiana , Solodovnikova Ekaterina , Shiryaeva Tatyana , Konuhova Marina , Dmitrieva Maria , Bogdanov Viktor , Nagaeva Elena , Bezlepkina Olga

Background: The PAX8 gene (Paired box gene 8) is located on the long arm of chromosome 2 (2q12–q14), contains 12 exons and encodes a similarly named PAX8 protein. This protein is a transcription factor which in the thyroid gland is essential for the follicular cells formation and takes part in the expression of the thyroid-specific genes (TG, TPO, and SLC5A5). Variants in the gene have been previously associated with autosomal dominant thyroid dysgenesis...