ESPE Abstracts

Background: Autoimmune thyroid disease (AITD), including autoimmune thyroiditis (AT) and Graves’ disease (GD), is a complex autoimmune disease with a strong genetic component. The cytotoxic product of T-lymphocyte antigen-4 (CTLA4) gene, encoding a negative regulator of the T-lymphocyte immune response, was shown to be associated to AITD.Objective and hypotheses: To investigate the association of A49G and C60T polymorphisms of CTLA4 gene in populati...

Background: We are not aware of other longitudinal cohort studies of boys with prepubertal assessment of exposure to endocrine-disrupting chemicals (EDCs) and annual long term follow-up of growth and puberty to evaluate semen quality.Objective: To describe semen quality and explore associations of prepubertal serum concentrations of organochlorine compounds and pubertal measures with semen parameters in an ongoing longitudinal cohort study of Russian boy...

Retinoic acid receptor agonists can have dramatic negative effects on growth and even induce premature growth cessation and epiphyseal fusion (1, 2). An 11 5/12-year-old, prepubertal girl with fibrodysplasia ossificans progressiva presented in our pediatric skeletal disorders clinic with the concern of early growth cessation. She had participated in a clinical trial of Palovarotene (“MOVE”, NCT03312634), a retinoic acid receptor-gamma agonist, since the age of 9 10/1...

Background: In young adults patients (pts) with CAH due to 21OHD few and conflicting data have been reported on bone mineral quality (BMQ) evaluated by quantitative ultrasound (QUS).Objective and hypotheses: To evaluate the bone mineral status by QUS variables assessed at proximal phalanges of the hand in a cohort of young adults with classical CAH due to 21OHD and the possible associations with their clinical and metabolic features.<p class="abstext...

Background: Reduced bone mineral density (BMD) is seen in Turner syndrome (TS) with an increased risk of fractures and osteoporosis. Body composition in TS is characterised by increased body fat (FM) and decreased lean body mass (LBM), even with a normal BMI. Oestrogen replacement therapy for attaining and preserving normal bone mass is necessary in most TS girls. There is a potential role of age-specific estrogen doses, with lower doses used in the early puberty and higher do...

Achieving adequate glycaemic control in children with type 1 diabetes (T1D) is essential to reduce incidence and progression of microvascular and macrovascular complications. However, factors that influence glycaemic control remain to be understood. The present study aimed to evaluate clinical, personal, genetic and eating behaviour characteristics underlying glycaemic control in T1D. 325 T1D individuals aged 6 and 20 years and with at least 1 year of disease duration have bee...

Objective: The majority of individuals with Turner syndrome (TS) experience Primary Ovarian Insufficiency requiring hormone replacement therapy (HRT). As the international consensus guidelines are unclear on the optimal formulation and dosing for HRT after pubertal induction in adolescents and young adults (AYA) with TS, our aim was to assess the current HRT practice patterns of endocrinologists and gynecologists.Methods:</strong...

Background: Nerve conduction velocity (NCV) abnormalities are considered as early signs of peripheral neuropathy in patients with diabetes mellitus (DM). We investigated which determinants NCV is subject to and how it is related to markers of metabolic control.Methods: We included 51 patients treated at the outpatient clinic of paediatric diabetology because of their type 1 DM and randomly assigned them for a nerve condu...

Background: Non-classic congenital adrenal hyperplasia (NCCAH) is a genetic disorder characterized by hyperandrogenism associated with potential metabolic alterations and changes in body composition and bone mineral parameters.Aim: The purpose of this pilot study was to evaluate the clinical and biochemical characteristics in association with bone mineral parameters and body composition in female patients diagnosed with ...

Purpose: MODY is a monogenic diabetes with autosomal dominant inheritance that usually occurs in adolescence or young adulthood. It constitutes 1% of diabetes cases in childhood. The diagnosis of MODY is very difficult due to genetic heterogeneity, rarity, and clinical overlap with other diabetes types. In recent years, the diagnosis of MODY has become easier with genetic developments. On the other hand, misinterpretation of results can cause confusion. In thi...