ESPE Abstracts

Key words: Dysgerminoma, gonadoblastoma, virilizationIntroduction: Gonadoblastoma is a rare ovarian tumor composed of sex cord cells and primitive germ cells. Although it is frequently seen in patients with 46,XY gonadal dysgenesis, it is also rarely seen in patients with a 46,XX karyotype. Here, we report a girl with a 46,XX karyotype presenting due to an uncommon cause of virilization, which was caused by bilateral gon...

Background: Familial Mediterranean Fever (FMF) is the most common hereditary periodic fever syndrome in Turkey. The effects of FMF on growth and puberty characteristics have yet to be investigated. This study aims to describe the features of children with FMF in terms of growth and puberty and compare them with healthy children.Methods: This retrospective study analyzed the clinical and laboratory records of 140 FMF-diag...

Background: In early-onset obesity, metabolic and cardiovascular problems like insulin resistance, hypertension, dyslipidemia, and metabolic syndrome start early in life. Our study aimed to investigate the relationship between metabolic and microvascular abnormalities in children with early-onset severe obesity using a non-invasive method, nailfold video capillaroscopy (NVC).Methods: In this cross-sectional study, 27 pat...

Background: Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive, clinically and genetically heterogeneous, pleiotropic disease characterized by the immotile primary cilia, leading to an MC4R pathway impairment. In addition to syndromic features, patients present with hyperphagia, early-onset obesity, metabolic syndrome (MetS) and increased risk of type 2 diabetes. Here, we aimto describe metabolic features and MetS z-score in a group of rare BBS cases.<...