ESPE Abstracts

Background: Spermatogonia contain processing bodies (P-bodies) that harbour P-element induced wimpy testis (Piwi) proteins associated specifically with Piwi-interacting RNAs to silence transposable DNA elements. In mice loss-of-function mutations in the Piwi pathway lead to de-repression of transposable elements, resulting in male-specific sterility.Objective and hypotheses: No previous studies have examined expression of transposons silencing gene micro...

Background: Children with ISS have an array of causes that lead to short stature and/or poor growth velocity. Genetic causes of short stature, notably SHOX mutations, can be associated with subtle skeletal disproportion with shorter limbs, manifesting as increased sitting-to-standing height ratios or SDS.Objective and hypothesis: Children with ISS and skeletal disproportions have a diminished growth response to GH treatment compared to chi...

Background: Iodotyrosine deiodinase (DEHAL1) is a thyroidal enzyme that deiodinates mono- and diiodtyrosines (MIT, DIT) and recycles iodine, essential for synthesis of thyroid hormone. Iodotyrosine deiodinase deficiency leads to hypothyroidism, goiter and variable mental retardation. The age for clinical onset was reportedly very diverse, allegedly related to individual iodine nutrition.Clinical case: We report on a boy, offspring of consanguineous paren...

Introduction: Prolonged evolution of an untreated hypothyroidism can lead to thyrotropic cell hyperplasia, which could be indistinguishable from a pituitary macroadnoma on resonance. Differential diagnosis is very important since it allows to avoid aggressive therapeutic behaviors.Case report: We show a 3-year-old girl who, in the context of a study due to psychomotor retardation, borderline head circumference and coarse features, presented in magnetic r...

Introduction: Prader–Willi syndrome (PWS) is a genetic disorder caused by the lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. Clinical picture of PWS changes across life stages. PWS is characterized by endocrine abnormalities, such as growth hormone (GH) deficiency, obesity, central adrenal insufficiency, hypothyroidism, hypogonadism, and complex behavioural and intellectual difficulties. The recombinant human growt...

Objectives: Somatrogon is a long-acting recombinant human growth hormone (GH) approved in the EU and other countries for once-weekly treatment of pediatric patients with GH deficiency (GHD). In this analysis, height outcomes of somatrogon-treated patients in a phase 3 trial (CP-4-006) were compared with historical data from matched somatropin-treated patients enrolled in KIGS.Methods: In trial CP-4-006, patients were ran...

Background: Good adherence to recombinant human growth hormone (r-hGH) is crucial to achieve optimal growth outcomes in children with GH deficiency (GHD). Controlling factors that negatively impact adherence is difficult in clinical practice. In order to obtain a better understanding of caregiver behaviour, an Argentinian patient support programme (PSP) implemented TuiTek®, a personalised programme comprising behavioural change training, call guides...

Introduction: Differential diagnosis of partial central diabetes insipidus (PCDI) and primary polydipsia (PP) can be challenging. Copeptin is the C-terminal segment of the vasopressin precursor peptide that represents a novel and stable biomarker. Arginine infusion produces a nonosmotic stimulus that causes an increase in copeptin concentrations in healthy subjects. Arginine-stimulated copeptin concentrations have been used to differentiate between patients wi...

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of short stature. Diagnosis is based on low basal IGF1 concentration, short stature, normal or elevated growth hormone concentrations and absence of any secondary causes of growth failure. Thanks to advances in next-generation sequencing (NGS) technologies, genetic etiology of SPIGF1D is expanding.Objectives: • Identify th...

Introduction: BIPSS before and after desmopressin stimulation has been shown to be a useful tool for diagnosis of ACTH-dependent CD and negative magnetic resonance imaging (MRI)or positive MRI but inconsistent biochemical data, in adult patients. However, little is known about its usefulness in pediatric population.Objective: To evaluate the prevalence of negative MRI, the sensitivity of BIPSS before and after desmopress...