ESPE Abstracts

Objective: Patients with congenital adrenal hyperplasia (CAH) seldom achieve their target height. Early adrenarche may accelerate bone age maturation and affect adult height. The QEPS-growth-model have been used for developing growth references and investigating healthy/pathological growth, however, not before used in individuals with endocrine disorders. This study aimed to evaluate growth patterns in CAH-patients with the QEPS-model.<s...

Background: Transgender individuals increasingly present at gender services in childhood. Consequently, to suppress pubertal development, more adolescents are long-term exposed to gonadotropin-releasing hormone analogues (GnRHa), from onset of puberty until start of gender-affirming hormones (GAH), around 16 years. Prolonged GnRHa may compromise bone health more than shorter-term treatment. If earlier start of GAH, when psychologically indicated, may partially...

Objective: Typically, infants born to mothers with gestational diabetes mellitus (IOGDM) have greater risks for macrosomia, later obesity and metabolic diseases. However, we have noticed that birth weights of IOGDM have reduced over the last decade even with uniform application of the International Association of Diabetes and Pregnancy Study Group’s (IADPSG) consensus definition. We therefore compared infancy growth outcomes from two IOGDM cohorts born during non-overlapp...

Background: Dietary intake has been shown to influence the composition and diversity of the gut microbiota in adults, however its impact in childhood and adolescence remains uncertain. Moreover, the impact of other lifestyle behaviors such as physical activity, sedentary behaviors, sleep and fitness on the gut microbiota has rarely been investigated.Objective: To explore the correlations between intestinal microbiota composition and meas...

Background: Late initiation of GH results in suboptimal adult height for many women with TS. In a landmark, randomized, controlled, clinical trial (“Toddler Turner” study) we showed that 2 y of early GH (ET group) started at 1.98±1.01 y, resulted in height SDS difference of 1.6±0.6 SDS vs. early untreated group (EUT).Objective and hypotheses: It was unclear if early height gains would result in taller adult heights, so patients were f...

Background: Idiopathic hypogonadotropic hypogonadism (HH) is highly genetically heterogeneous. To date, about 50 causative genes have been identified, estimated to account for up to 50% of hereditary cases. With next generation sequencing (NGS) technology now in wide clinical use, it is increasingly possible to determine the underlying genetic etiology of isolated and combined pituitary hormone deficiencies.Objective: We...

Introduction and Aim: The Incidence of Type 1 diabetes mellitus (T1DM) varies markedly between populations and over time. Recently a number of high incidence countries, including Ireland, have reported a stabilisation and/or reduction in their T1DM incidence rate (IR) in childhood. Ireland, a high incidence country for T1DM, experienced a dramatic increase in T1DM incidence between 1997 and 2008, a stabilisation in incidence between 2014 and 2018 followed by a...

Background: In monogenic diabetes due to KCNJ11 and ABCC8 mutations that impair KATP- channel function, sulphonylureas improve long-term glycaemic control. Although KATP channels are extensively expressed in the brain, the effect of sulphonylureas on neurological function has varied widely. We evaluated published evidence about potential effects of sulphonylureas on neurological features, especially epilepsy, cognition, motor function and muscular tone, visuo-...

Background: The pathogenesis of autoimmune thyroid diseases depends on many factors including genetic predisposition and environmental factors. Graves' disease and Hashimoto's thyroiditis are associated with an impaired immunological tolerance to antigen molecules in the thyroid gland. Abnormal immunotolerance results from impaired suppression involving regulatory T cells in peripheral immunocompetent tissues (Tregs). It is known that patients with a...

McCune Albright Syndrome (MAS, OMIM # 174800) is a rare congenital sporadic disorder with an estimated prevalence ranging from 1 in 1,00,000 to 1 in 100,000. MAS is caused by a post-zygotic somatic activating mutation of the GNAS1 gene resulting in an increased GSα protein signaling leading to hyperfunction of glycoprotein hormone receptors, autonomous cell proliferation, and hormonal hypersecretion. The mosaic constitutive activation of this signal transducer is clinical...