ESPE Abstracts

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...

Introduction: Signs of hyperandrogenemia are common through adolescent and young females, hirsutism affecting 5% of reproductive -aged women. The most common cause of hyperandrogenemia and insulin resistance (IR) is polycystic ovary syndrome (PCOS) (1). The differential diagnosis includes congenital adrenal hyperplasia (CAH) (2), androgen secreting tumors, but also very rare genetic syndromes of IR.Case report: A 13 year...

Objective: We aim to investigate the association among progranulin (PGRN), high-mobility group box 1 (HMGB1), and obesity related markers in young rat model of high fat diet-induced obesity.Materials and Methods: 20 Male Sprague-Dawley (SD) rats at the age of 21 days were divided into two groups randomly. The rats were fed with normal diet (NC group) or high-fat diet (OB group). The NC group and OB group were sacrificed ...

There is an intriguing association between DS and thyroid abnormalities, which include sub-clinical, overt hypothyroidism, hyperthyroidism, and positive thyroid Antibodies. The prevalence of these abnormalities varies considerably depending on the diagnostic criteria and the selected population which includes sample size and age group.Aim: To measure the prevalence of thyroid dysfunction and associated autoimmunity in children with Down ...

Background: Thickening of the Pituitary Stalk (TPS) and/or Central Diabetes Insipidus (CDI) can occour in isolation or synchronously/metachronously in the same patient. Due to their rarity and wide spectrum of underlying aetiologies they represent a diagnostic and management conundrum.Aim: To develop a high-quality national multidisciplinary guideline for the assessment and management of children and young people (CYP) before their 19th birthd...

Background: Autoimmune primary adrenal insufficiency (PAI) is a rare and life-threatening disease. Standard replacement therapy consists of multiple daily doses of hydrocortisone combined with fludrocortisone. A recent Endocrine Society guideline argued against hormonal monitoring of glucocorticoid replacement. However, about 50% of adolescents and young adults (AYAs) with chronic diseases are non-adherent to their prescribed treatment regimens. Pervasive nonadherence places p...

Background: Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of disorders characterized by pancreatic beta-cell dysfunction, and usually referred to monogenic forms of diabetes mellitus to distinguish them from the more common type 1 (T1D) or type 2 diabetes (T2D). Fourteen different MODY genetic subtypes have been identified so far. Making a definite diagnosis is very challenging because of overlapping clinical phenotypes between diabetes subtypes. Neverth...