ESPE Abstracts

Background: Gender dysphoria is characterised by an incongruency between the perceived gender identity and the biological sex. The cause of gender dysphoria is unclear and environmental as well as genetic factors may be important. It is well known that during sexual differentiation sex steroids control not only the differentiation of the internal and external genitalia but also the sexual differentiation of the brain. Structural as well as functional differences have been show...

Background: The integration of technology in health care has led to improved medical care and better compliance, especially in chronic diseases such as diabetes. Despite these advances, compliance has always been an issue in caring for adolescents with diabetes. Text messaging has become a popular way to communicate with peers especially for teens. Multiple studies support the theory that texting is an easy and affordable resource that health care providers can utilise to educ...

Context: Pregnancy and parturition involve a complex interplay between maternal health and that of her offspring. Graves’ disease and its management have been associated with adverse pregnancy, labor and delivery, as well as neonatal outcomes. Adaptation of the hypothalamic-pituitary-thyroid axis can be reflected by measuring thyroid function levels in newborn screening (NBS).Objective: To investigate the character...

Introduction: Achondroplasia is caused by a pathogenic mutation in the FGFR3 gene, leading to impaired endochondral bone growth and multiple medical complications. Vosoritide (once daily, subcutaneous injection) has recently been approved by the European Medicines Agency (EMA) for treating achondroplasia in patients aged ≥2 years until closure of epiphyses. It has been made available in France via an early access program, a cohort Temporary Authorization fo...

Background: Although growth hormone (GH) and the GH releasing hormone receptor (GHRHR) are known as etiologic factors in non-syndromic isolated growth hormone deficiency (IGHD), very few mutations have been identified in this rare condition (accounting for only 6–12.5% and 0–6.7% of IGHD cases depending on studies). The functional consequences of the identified variants have rarely been assessed.Objective and hypotheses: To assess the contribut...

Background: Humanin is a novel signaling peptide which has been showed, by in vitro and in vivo studies, to improve insulin sensitivity. As plasma humanin levels decrease during adulthood, particularly during aging, it has been proposed that the increment of insulin resistance in aging might be associated with lesser humanin plasma values.Objective and hypotheses: The physiological insulin resistance observed during puberty in normal ch...

Introduction: Achondroplasia is the most common skeletal dysplasia, in which the main clinical feature is short stature. Vosoritide, the first specific treatment for achondroplasia; administered as a daily subcutaneous injection, was approved by the European Medicines Agency in August 2021 for patients aged ≥2 years until closure of epiphyses. French Health Authorities granted early access to vosoritide treatment in France on 24 June 2021, which continued u...

Background: We previously reported on the strong predictive value of the muscle-to-fat ratio (MFR) z-score in the development of early-onset metabolic syndrome components in children with overweight/obesity. Data on the role of the balance between muscle and fat in the development of childhood onset nonalcoholic fatty liver disease (NAFLD) are sparse. In the current study we explored the interplay between MFR and surrogate markers of NAFLD in children with ove...

Background and Objectives: In recent years, a growing number of studies investigated the profile of serum metabolomics in health and disease. These studies have led to the discovery of novel biological biomarkers and causative agents for a variety of medical conditions. Here, we focused on profiling serum metabolites of children diagnosed with growth hormone deficiency (GHD).Methods: We conducted a prospective study and ...

Background: Mutations in the gene encoding LHX4, a homeodomain-containing factor with two LIM domains, are responsible for dominant hypopituitarisms with incomplete penetrance and variable expressivity. To date, only 14 unambiguous LHX4 mutations have been reported. Among those cases, 12 had an absent or ectopic posterior pituitary (EPP) and/or an abnormal sella turcica.Objective and hypotheses: To i) assess the contribution of LHX4 in combined pituitary...