ESPE Abstracts

Background/Aim: X-linked hypophosphatemia (XLH) is a rare disease caused by mutations in PHEX, leading to elevated FGF23 levels, hypophosphatemia and chronic renal phosphate wasting. Burosumab is a monoclonal antibody against anti-FGF23, which has been recently approved for treatment of XLH. Beyond clinical trials, little is known about its efficacy/safety in clinical practice which is the aim of study.Patients/Methods: ...

Background: patients with childhood-onset craniopharyngioma (CO-CP) present long-term outcomes, including growth hormone (GH) deficiency and obesity. Currently, data on the effects of GH therapy (GHT) on the body mass index (BMI) in CP are inconclusive. Aims of the study were to evaluate BMI over time and its determinants in a large cohort of CO-CP patients treated with GH therapy (GHT).Methods: a multicenter retrospecti...

Background: A close association has been reported between obesity and renal damage in adults, but evidence in childhood is still limited.Methods: We retrospectively studied 396 children and adolescents with obesity. Clinical, biochemical, and instrumental evaluations were performed. Patients were stratified according to the metabolically healthy obesity (MHO) and metabolically unhealthy obesity (MUO) phenotypes. Kidney d...

Introduction: COVID-19 pandemic, by restricting outside activities, encouraged a sedentary lifestyle due to social distancing and, alongside, an increase in the consumption of canned food and industrialized foods, resulting in a negative impact on the growth of children and young people (CYP). Concerns for consequences in CYP with type 1 diabetes (T1D) rose.Objectives: To investigate 1-year effects of the COVID-19 pandem...

Introduction: The true incidence of SARS-CoV-2 infection in children and young people (CYP) is unclear and data are influenced by testing strategies. CYP have so far accounted for 17.5-22% of diagnosed infections. In adults, diabetes was identified as risk factor for severe symptoms and hospitalization with the COVID-19. Eighteen months into the pandemic, studies in CYP with type 1 diabetes (T1D) reported only an increased prevalence of diabetic ketoacidosis (...

Purpose: The main purpose of the study is to assess the association between obstructive sleep apnea (OSA) and insulin secretion in children with obesity.Objectives: To achieve our aim we have assessed OSA and measured insulin secretion by the using the oral minimal model (OMM) in a cohort of 77 obese children and adolescents.Methods: We retrospectively enrolled children and adolesc...

Background: Carney complex (CNC) is a rare autosomal dominant multiple endocrine neoplasia and lentiginosis syndrome, characterized by abnormal cutaneous and mucosal pigmentation, myxomas of the heart, skin, breast and other non-endocrine tumors. CNC is principally caused by loss-of-function mutations of PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Cushing’s syndrome is a rare disorder in...

Cushing’s disease (CD) is rare entity especially in pediatric patients. It is associated with significant morbidity. Early diagnosis and treatment is important for optimal outcome.Aim: To evaluate the clinical, biochemical, pathology, treatments and outcome in a cohort of CD pediatrics patients in a single tertiary center.Subjects and Methods: Retrospective review of 27 medical records of CD ...

The proband is a Caucasian girl with primary amenorrhea and no breast development at the age of 16 11/12 yrs. Unrelated parents; an older brother in good health and a twin brother (GA 31 days; BW 1450g) with reported agenesis of the corpus callosum and socio-emotional behavioral problems. The mother (menarche 14 yrs. and bicornuate uterus) presented four early spontaneous abortions and one stillborn fetus (46, XX) in the 6th month of pregnancy; remaining negative family histor...

Introduction: Pathogenetic mutations in the HSD17B3, located on chromosome 9q22, lead to 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) isoenzyme deficiency, etiopathogenetic for a disorder of sex development (DSD) with 46 XY karyotype and female phenotype at birth. 17β-HSD3 isoenzyme, expressed at testicular tissue, catalyzes the synthesis of testosterone from Δ4-androstenedione, allowing the correct development of male external genit...