ESPE Abstracts

Background: The HPAT multi-disciplinary meeting (MDT) was set up in 2011 with the aim to improve collaboration with other hospitals treating children with rare paediatric suprasellar brain tumours. It is a monthly remote meeting conducted virtually.Objective: To evaluate the impact of COVID19 pandemic by comparing the number of meetings, cases (news/previously discussed), diagnosis, attendees, specialties, centres and ou...

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),...

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...

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 ...

Uncontrolled diabetes mellitus is a disease with a wide range of systemic complications. Eye complications may seriously threaten quality of life. Diabetic retinopathy is the most frequent diabetic ocular complication. However, diabetic capilaropathy is a little known condition of diabetic retinopathy. It is an acute optic disc edema and/or macular edema; due to an acute hyperglycaemia.Method: We present a case of a diabetic 14-years-old female with diab...

Background: Congenital hypothyroidism (CH) comprises a heterogeneous group of disorders that includes diseases of the hypothalamo-hypophyseal system. The latter are missed on TSH based screening programs leading to increased morbidity and mortality. Additional T4 determinations, allows an early detection of CH of central origin (CH-C).Objective and hypotheses: To report the findings of a neonatal screening program based on determination of TSH...

Background: At present, literature regarding postnatal growth in small for gestational age (SGA) subjects and its’ correlation with growth factor levels is still controversial. A relation between IGF1 and IGFBP3 levels at birth and weight and length catch up growth has been demonstrated. In the first months of life a rapid weight catch-up growth has also been associated to an increase of leptin, basal insulin and insulin resistance.Objective and hyp...

Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal-dominant disorder frequently caused by the serine-threonine-kinase-11(STK11) gene mutation and characterized by hamartomatous polyps throughout the gastrointestinal tract, mucocutaneous hyperpigmentation and predisposition to several malignancies. Rarely, PJS may be associated to an oestrogen producing large cell calcifying Sertoli cell tumour that may result in gynecomastia and increased growth velocity (GV).<p ...

Introduction: Preclinical models demonstrated that Angiopoietin-like protein 4 (ANGPTL-4) regulates lipid metabolism and affects energy homeostasis. However, no data exist regarding its involvement in childhood and adolescence, periods of life with important metabolic changes.Objectives: We aimed to investigate circulating levels of ANGPTL-4 in children and adolescents and its relationship with gender, puberty and obesit...

Background-Aim: Gene rearrangements between CYP21A2, TNXB and their homologous pseudogenes (CYP21A1P,TNXA) result in chimeric genes, responsible for the CAHX syndrome. CAHX patients show CAH and Ehlers-Danlos syndrome (EDS) symptoms. Three CAHX chimeras with different clinical severity are described: CH1 (including 120bp deletion in exon 35), CH2 and CH3. The small size and few series reported so far warrant further studies ...