ESPE Abstracts

Background: Our study aimed to determine the molecular characterization of thyroid nodules and cancer in childhood and investigate the genotype-phenotype relationship.Methods: The pre-postoperative clinical follow-up features and genetic characteristics of 62 patients were evaluated. Next-generation sequencing (NGS) was used to investigate common variants in thyroid lesions with sufficient tissue in the pathology archive...

Introduction-Aim: Aggrecan, encoded by the ACAN gene; is a cartilage- specific proteoglycan- containing protein that is densely found in the growth plate and intervertebral discs. Heterozygous variants have been reported in cases with short stature, mild skeletal dysplasia, and advanced bone age. The Aim of this study is to examine the phenotypic characteristics of pediatric cases with ACAN gene variants in Turkey.<stro...

Background: Osteonecrosis (ON) is bone death caused by inadequate blood supply resulting in demineralization and trabecular thinning and, subsequently, mechanical failure. Although the pathophysiology of ON is not fully understood, the use of high-dose glucocorticoid (GC) is one of the triggers. Furthermore, its optimal management remains uncertain. The use of bisphosphonates (BP) for the treatment of ON has been reported, however, data on outcomes are limited...

Aim: Homozygous mutations in the HAX1 gene have been described in autosomal recessive severe congenital neutropenia (CN). In this rare disease, ovarian failure has been reported only in 9 female patients in the literature. There is insufficient data on childhood patients with HAX1 deficiency and the age of onset of ovarian failure is unknown. The aim of this cross-sectional study was to evaluate the gonadal functions and pubertal development in paedia...