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...

Background: The course of type one diabetic disease (T1DM) varies according to the period of life and in response to various external or internal factors. Adolescence is an evolutionary phase that involves important developmental changes and identity construction. Diabetes disease and its management, especially in this life period, can lead to psychological distress and impact on Self-redefinition.Method: We conducted a ...

There is little information on metabolic profiles and Body Composition in children with Silver-Russell syndrome (SRS).Methods: 31 SRS patients [16 subjects with 11p15 loss of methylation (11pLOM) and 15 subjects with maternal uniparental disomy of chromosome 7 (mUPD7); mean age 7.4±4.3 years] and non-SRS subjects [34 small for gestational age (SGA), 13.4±2.7 years, and 44 appropriate for gestational age (AGA), 6.9 ± 1.4 ye...

Background: Central precocious puberty (CPP) results from premature activation of hypothalamic-pituitary-gonadal axis, which leads to an increased release of gonadotropin-releasing hormone (GnRH). GnRH stimulates the development of secondary sexual features, rapid bone maturation and growth. GnRH agonists (GnRHa) represent the gold-standard therapy in CPP children and their use is responsible for pituitary GnRH receptors down-regulation, luteinizing hormone (L...

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: Aluetta® Smartdot™ (Merck Healthcare KGaA, Darmstadt, Germany) is first of its kind digitally connected smart injection pen device for recombinant-human growth hormone (r-hGH) administration. Aluetta® pen with Smartdot™ knob attachment integrated with Growzen™ digital ecosystem enables healthcare professionals (HCPs) to remotely monitor adherence and achieve optimal clinical outcomes for patients....

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...

Introduction: Neonatal diabetes, defined as the onset of diabetes within the first six months of life, is very rare disease. Several genetic factors caused to neonatal disease have been identified to date. PTF1A (pancreatic transcription factor 1a) play a key role in early pancreas development and cerebellar neurogenesis. Biallelic mutations in PTF1A have been reported in patients with pancreatic and cerebellar agenesis, whereas mutations loc...

Background: Pancreas transcription factor-1 alpha (PTF1A), encoded by the PTF1A gene, is a beta helix loop(bHLH) protein which involved in the development of the pancreas and cerebellar neurogenesis. Although mutations of PTF1A cause permanent neonatal diabetes(PNDM), pancreas agenesis and cerebellar agenesis, PTF1A enhancer mutations reported causing PNDM and isolated pancreas agenesis. In the present study, we evaluate the phenotyp...

Background: Neonatal diabetes mellitus (NDM) is a relatively rare form of monogenic diabetes and usually presents in the first 6–9 months of life. In this study, our objective was to report the clinical details, perform a detailed genetic analysis and acquire a clinical–phenotype correlation of our cohort.Materials and methods: NDM patients referred to SN Endocrine centre between period of Nov 2014 to April 2017 and patients under follow-up wit...