ESPE Abstracts

Introduction: X-linked hypophosphatemia (XLH) is a rare hereditary condition caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX). It is characterized by altered phosphate homeostasis with persistent hypophosphatemia and hyperphosphaturia resulting in deficient skeletal mineralization, rickets, bone deformity, growth failure, dental problems, joint pain and impairment.Case Prese...

Hypercalcemia and nephrocalcinosis (NC) are rare findings associated with congenital adrenal hyperplasia (CAH), whose pathogenetic mechanisms are still unclear. In this study we aimed to investigate the prevalence of NC in a cohort of Italian children affected with classical form of CAH, and to correlate its association with metabolic control of the disease.Subjects and Methods: This is a multicenter one year-perspective study involving ...

Achondroplasia is the most common skeletal dysplasia caused by a gain of function of the fibroblast growth factor receptor 3(FGFR3) that impairs endochondral ossification, exiting in short stature and altered bone microarchitecture. Although fractures and reduced bone mineralization are not comorbidities frequently reported, specific normative DXA data are lacking. Aim of the study was to assess bone density parameters in an Achondroplasia cohort. Fifty-seven patients (Female-...

Background: Congenital hypopituitarism (CH) genetics is highly heterogeneous. The massive use of NGS identified at least 21 desease causing genes. Not fully understood inheritance mechanism, incomplete penetrance and variable expressivity explain the complexity of phenotype-genotype correlations. To further complicate the scenario, the co-occurence of more than one desease-causing genes variants can geopardize the phenotype. Herein, we report the heterogeneous...

Background: Hypergonadotropic hypogonadism (HH) is an hallmark of Turner Syndrome (TS) and hormone replacement therapy (HRT) is often required for pubertal induction; this retrospective study highlights the pituitary-gonadal axis during infancy (<5 years), childhood (5–10.9 years) and adolescence (> 11 years) in a cohort of TS patients enrolled between February 1999 to March 2023. Our aim is to underline the diagnostic role of Gonadotropins as a ma...

Nicotinamide nucleotide transhydrogenase (NNT) is expressed in the heart, thyroid, and testicles, where it maintains the balance of reactive oxygen species in the mitochondria. It is linked, by an insufficiently described mechanism, to primary adrenal insufficiency (PAI) with or without mineralocorticoid insufficiency and several extra-adrenal manifestations (i.e. gonadal adrenal rest tumors, cardiomyopathy, hypothyroidism, and precocious puberty). A comprehensive and chronolo...

Background: Digital health is becoming increasingly important worldwide. However, there is a lack of research on barriers to the implementation of digital health solutions for growth disorders in the Gulf Region. Participatory research can help to understand barriers faced by different stakeholders, design effective solutions and evaluate their implementation, whilst taking cultural aspects into consideration. Involving clinicians in understanding barriers to ...

Responsiveness to recombinant human growth hormone (rhGH) treatment in Turner syndrome (TS) is highly variable. Previous research has characterised genetic variants associated with rhGH response but these only have a minor impact. The relationship of these genetic variants to the blood transcriptome is unknown. The aim of this analysis was to relate unsupervised baseline blood transcriptome and genetic data from TS patients to their phenotype, karyotype and responsiveness to r...

Background: The new preventive child health care guideline for referral of short/tall children facilitates early detection of growth disorders. Understanding the impact of early treatment initiation on recombinant human growth hormone (rhGH) adherence and catch-up growth can support the use of the guideline.Aim: To evaluate the impact of age at rhGH treatment start on adherence (≥85% vs <85% of prescribed doses...

Background: Turner Syndrome (TS) is a chromosomopathy affecting 1 out of 2000-2500 live births. Although short stature, heart disease and ovarian dysgenesis are the best-known features, patients have variable cognitive impairments. Aim of this study is to analyze the cognitive profile of a cohort of patients enrolled between February 2018-March 2023.Methods: 49 TS patients [Group A: 45, X0 (n=13); Group B: mosai...