ESPE Abstracts

Background: LUM-201, a potent long-acting oral GH secretagogue (GHS), acts on the GHS Receptor-1a to induce GH secretion. The best candidates for this investigative oral treatment are pre-pubertal children with moderate GHD (standard stimulation testing peak GH between ≥3 <10ng/ml) that respond positively to the LUM-201 Predictive Enrichment Marker (PEM) test (Bright et al JES, 2021). PEM positive responders have basal serum IGF-1 >30ng/ml and a peak ...

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation (ROHHAD) is a rare syndrome of unknown etiology, associated with high morbidity and mortality. The goal was to characterize endocrine symptoms of patients with ROHHAD syndrome treated in our centre in years 2009-2024. We identified and reviewed the charts of 4 patients with ROHHAD syndrome. The male to female ratio was 1:3. Definitive diagnosis of ROHHAD syndrome was made after alveolar...

Background: Autosomal dominant neurohypophyseal diabetes insipidus (adNDI) is characterized by arginine vasopressin (AVP) deficiency resulting from mutations in the AVP-NPII genePatients and Methods: We analyzed AVP-NPII gene in 13 kindreds with familial NDIAim: To describe the clinical and molecular features of Italian kindreds with adNDIResults</str...

Background: DCA 2000 is still a very popular device to determine HbA1c levels in diabetes practices through a finger stick. It allows clinicians to give immediate feedback to patients and to make changes in diabetes management during the three-monthly assessment.Objective and hypotheses: To compare HbA1c values measured with DCA 2000 with corresponding values measured with IFCC (considered as the reference method) in a single paediatric centre, to assess...

Background: According to international guidelines Prader-Willi children during GH treatment must be closely monitored by polysomnography, ENT evaluation and IGF1 levels.Objective and hypotheses: The study aims to determine whether the modulation of GH therapy in children and adolescents with Prader-Willi Syndrome with a specific decisional score (POI score; Salvatoni A., Horm Res Paediatr. 2012) changes and to what extent the results of the therapy.<...

Background: Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder among women of reproductive age and is characterised by chronic low-grade inflammation, ovulatory dysfunction and hyperandrogenism, and often by insulin resistance. The IGF system is involved in glucose metabolism regulation and is altered in chronic inflammation where both IGF-I and –II can be reduced. We previously described increased HMGB1 content in follicular fluid (FF) in P...

Context: Metabolic dysfunction-associated fatty liver disease (MASLD) is the most common chronic liver disease. Recent data showed that MASLD is a common condition also in adults with type 1 diabetes (T1D) and it is independently associated with an increased risk of diabetic complications.Aims: To examine the prevalence of MASLD and its association with glycemic control metrics in children and adolescents with T1D.<p...

Inherited disorders of biogenic amine metabolism are rare neurometabolic disorders caused by defects in neurotransmitters (dopamine, serotonin, norepinephrine, epinephrine). Dopamine deficiency leads to hyperprolactinemia. Prolactin blood level is used as peripheral indirect biomarker of central dopamine deficiency and can help in adjusting the therapy dosage, which primarily consists of using L-dopa. However, patients may become refractory to L-dopa and they could present hyp...

Background: Achondroplasia is the most common form of skeletal dysplasia, caused by activating mutations of FGFR3 gene. In the previous years the management of achondroplasia was focused on prevention and treatment of complications related to the altered cartilage maturation. Therapeutic spectrum of achondroplasia was broadened by approval of Vosoritide (VOXOZOGO®), a synthetic recombinant analogue of C-natriuretic peptide (CNP). The interaction between ac...

Introduction: Neonatal hyponatremia with hyperkalemia is an uncommon but potentially life-threatening occurrence. Congenital adrenal hyperplasia is often suspected in these cases, but among the alternative diagnoses, it is important to consider pseudohypoaldosteronism, a rare syndrome characterized by increased aldosterone secretion associated with clinical signs of hypoaldosteronism.Case presentation: A 21-day-old femal...