ESPE Abstracts

Introduction: Data on atypia of undetermined significance (AUS) in thyroid fine needle aspiration biopsy in children is limited. The American Thyroid Association (ATA) pediatric guideline recommends surgery, while the European Thyroid Association (ETA) recommends fine-needle aspiration biopsy (FNAB) repetition after 6 months. The aimof this study is to determine the markers of malignancy in AUS in children and to discuss the approach to AUS.<p class="abste...

Introduction: Metaphyseal dysplasia, Spahr type(MDST) is an autosomal recessive primary skeletal dysplasia characterized by postnatal short stature, progressive bowing deformity, waddling gait, with an incidence of <1/1 million. MDST is caused by mutations in Matrix metallopeptidase 13(MMP13) gene. The MMP13 plays a role in the degradation of extracellular matrix proteins. It is required for embryonic bone development and ossification. It may be involved in...

Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy(APECED) is a rare autoimmune disease caused by a loss-of-function mutation in the autoimmune regulator gene(AIRE). AIRE gene mutation disrupts the negative selection of self-reactive T cells in the thymus, causing autoimmune reactions in endocrine and non-endocrine tissues. Impairment in T cell function is also associated with susceptibility to specific infections along with autoimmun...

Introduction: The most common non-metabolic complication of insulin pump therapy is set occlusion, and the literature on factors associated with occlusion is limited. This study aims to investigate the factors influencing set occlusion.Methods: A total of 52 patients with type 1 diabetes using insulin pumps were included in the study. A 36-item questionnaire related to set occlusion was administered to the healthcare per...

Introduction: ‘Maturity-Onset Diabetes of the Young ‘(MODY) 9 is a rare subtype of MODY, resulting from mutations in the ‘Paired Box Gene 4’ (PAX4) on chromosome 7q32.1. PAX4 is mainly expressed in pancreatic islet cells, playing a crucial role in the development, differentiation, proliferation, and survival of insulin-producing β-cells during embryonic stages, as well as in β-cell regeneration in adulthood. Mutations in PAX4 ...

Introduction: LIG4 syndrome, a rare autosomal recessive disorder, arises from mutations in the DNA ligase IV (LIG4) gene on chromosome 13q33–q34. It disrupts DNA damage response and the repair of double-strand DNA breaks crucial for T and B lymphocyte receptor production. This syndrome manifests various clinical features such as microcephaly, atypical facial characteristics, growth delays, skin issues, genital abnormalities (micropenis/cryptorchidism), a...

Objectives: Advanced hybrid closed-loop (AHCL) therapy with the Medtronic MiniMed™ 780G system improves glycemia; however, the clinical outcomes in younger children remain less established. The evaluation of the use of the Medtronic MinimedTM 780G in children under 7 years old was aim ed.Methods: Children under 7 years old with type 1 diabetes mellitus (T1D) using MiniMed™ 780G AHCL and a control g...

Aim: Type 1 Diabetes Mellitus (T1DM) is a chronic disease and requires lifelong care and management. Carbohydrate (CHO) counting is one of the meal planning methods that can be preferred in the treatment of diabetes. We aimed to investigate the effect of carbohydrate counting on the nutritional habits and metabolic control of adolescents with Type 1 DM.Subjects and Method: Patients with Type 1DM diagnosis who applied to our Pediatric End...

Objective: In this study, we aim ed to investigate the effect of body mass index on metabolic control and the relationship between daily insulin requirement and body mass index in children with newly diagnosed type 1 diabetes.Materials and Methods: Between 17.11.2020 and 31.12.2021, 23 patients with newly diagnosed type 1 diabetes mellitus in the Pediatric Endocrinology Clinic and followed prospectively for the first yea...

Aim: In this study, we investigated whether there was a relationship between prolactin hormone (PRL), whose excess levels lead to infertility, and expression of Kisspeptin (Kiss1), Neurokinin (Tac2) and their respective Receptors.Material and Methods: In our study, 12-16 weeks old 40 female Wistar Albino rats were classified into three groups; control group (n=10), physiological saline (SF) (n=1...