hrp0089fc9.4 | Pituitary, neuroendocrinology and Puberty 1 | ESPE2018

Neuroendocrine Morbidity after Paediatric Craniopharyngioma: a Longitudinal Single Centre Analysis of 93 Patients Over 30 Years

Dehalvi Shiraz , Guzzetti Chiara , Gan Hoong-Wei , Spoudeas Helen

Context: Craniopharyngiomas are rare, suprasellar tumours with excellent 5-year survival rates of 95%. Despite their benign histology, their tendency to invade vital nearby optic, hypothalamopituitary and vascular structures, complicates resection whilst potentially causing secondary life limiting morbidity, panhypopituitarism and premature mortality. Since 1997, conservative hypothalamic-sparing surgery and radiation to the residual tumour has replaced aggressive resection at...

hrp0089p2-p140 | Fat, Metabolism and Obesity P2 | ESPE2018

Sex-related Differences and Effect of Puberty on Metabolic Syndrome in Obese Children and Adolescents

Guzzetti Chiara , Ibba Anastasia , Casula Letizia , Pilia Sabrina , Loche Sandro

Introduction: Metabolic syndrome (MS) is a known complication of obesity. It is still unclear whether gender and puberty influence the prevalence of MS in children and adolescents.Objective: Aim of the study was to evaluate the effect of gender and puberty on the prevalence of MS and on cardiovascular risk factors (CVRF) in obese children and adolescents.Patients and Methods: 1437 obese patients (age 9.7 (2.2–17.9) ys; 660 Mal...

hrp0086p2-p759 | Pituitary and Neuroendocrinology P2 | ESPE2016

A Case of Central Precocious Puberty in a Patient with Prader-Willi Syndrome

Pellegrin Maria Chiara , Tornese Gianluca , Faleschini Elena , Ventura Alessandro

Background: Hypogonadism is one of the major diagnostic criteria of Prader-Willi syndrome (PWS). A hypogonadotropic hypogonadism is often present as a result of hypothalamic dysfunction (together with other hormonal disorders, such as growth hormone deficiency and hypothyroidism).Presentation: A 8.5-year-old boy with genetically-confirmed PWS (maternal uniparental disomy) presented in our Endocrinology Unit for routinely follow-up. Therapy with rhGH was ...

hrp0082fc7.3 | Growth promoting therapies | ESPE2014

Gene Expression Networks Associated with Changes in Serum Markers of Metabolism and Growth in GH-Treated Children with GH Deficiency

Stevens Adam , De Leonibus Chiara , Chatelain Pierre , Clayton Peter

Introduction: Growth promoting effects of GH occur in parallel with its impact on insulin sensitivity and lipid metabolism; underlying biological networks that link these actions are not defined. Our objective was to identify gene expression (GE) networks linking growth with metabolic responses in GH-treated children with GHD.Methods/design: Pre-pubertal children with GH Deficiency GHD (n=125) were enrolled from the PREDICT short-term (NCT002561...

hrp0094p2-456 | Thyroid | ESPE2021

Hashimoto Thyroiditis: long term follow-up from childhood to young adulthood

David Francesco , Casula Letizia , Guzzetti Chiara , Ibba Anastasia , Loche Sandro

Introduction: The evolution of Hashimoto Thyroiditis (HT) has been investigated by several studies both in pediatric and adult age. However, there are limited data on the progression of the disease from childhood to adulthood.Objective: Aim of the study was to describe the evolution of thyroid function in children with HT from childhood to young adulthood.Patients and Methods: The diagnosis of HT was defined by the presence of anti...

hrp0097fc11.3 | GH and IGFs | ESPE2023

Analysis of a large panel of genes in a cohort of patients with severe short stature: detection rate and genotype-phenotype correlations

Guazzarotti Laura , Mozzato Chiara , Meneghin Alice , Nicolucci Antonio , Cassina Matteo

Short stature is a frequent reason for referral to pediatric endocrinologists and this phenotype has been associated with a large number of gene variations during the last decades, highlighting its complex and heterogeneous etiology. We evaluated the detection rate of the analysis of a selected gene panel in a cohort of patients with short stature defined as height below -2 standard deviations (SD). Overall, 134 patients were included in the study: 73 with GH deficiency (GHD),...

hrp0097p2-56 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Monogenic Diabetes (MODY) in Adolescents and Personalized Treatment.

Mozzato Chiara , Meneghin Alice , Monti Elena , Trevisson Eva , Guazzarotti Laura

Pathologically elevated serum levels of fibroblast growth factor-23 (FGF23), a bone-secreted hormone that regulates phosphorus homeostasis, result in renal phosphate wasting leading to rickets or osteomalacia. Patterns leading to FGF23 excess are still unknown. Recently, FGF23 elevated rickets has been associated with epidermal nevus syndrome, designating the cutaneous skeletal hypophosphatemia syndrome (CSHS). The clinical picture is not completely defined as, to date, only a...

hrp0097p2-174 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

HIgh variability of phenotypic expression of the same genotype in X linked hypophosphatemic rickets (XLH)

Meneghin Alice , Mozzato Chiara , Monti Elena , Guazzarotti Laura

X-linked hypophosphataemia (XLH) is a dominant disorder caused by mutations in PHEX (located at Xp22.1), associated with rickets, lower limb deformities, pain, poor mineralization of the teeth and disproportionate short stature in children. The characteristics and severity of XLH vary between patients. Early diagnosis and specific treatment is usually decisive to improve short and long term patient outcomes. We describe the variability of phenotype in two sisters carrying the ...

hrp0098p1-158 | GH and IGFs 2 | ESPE2024

Tailoring the long-acting GH therapy in the real life

Mozzato Chiara , Zoletto Silvia , Meneghin Alice , Guazzarotti Laura

Introduction: Guidelines recommend starting growth hormone (rhGH) as soon as possible in pathological short stature to promote growth and normalize final height. Despite efficacy and safety of rhGH, about 70% of patients have poor adherence to treatment, with consequently reduced therapeutic response. Somatrogon, a weekly long-acting GH (LAGH), may improve the therapy compliance and efficacy, reducing the number of injections. Despite it has been demonstrated ...

hrp0098p2-149 | GH and IGFs | ESPE2024

Real-world experience of using Long-Acting Growth Hormone Somatrogon in children and adolescents with growth hormone deficiency

Tamaro Gianluca , Rodaro Chiara , Faleschini Elena , Tornese Gianluca

Background: The first Long-Acting Growth Hormone (LAGH) therapy, Somatrogon, has been available in Italy since March 2023 for children with growth hormone deficiency (GHD) older than 3 years, offering a convenient way of administering the treatment once weekly instead of once daily. Clinical trials have demonstrated the efficacy and safety of LAGH treatment in children with GHD. We aim ed to evaluate the real-world experience of using Somatrogon at a tertiary ...