ESPE Abstracts

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: It was reported recently that central adrenal insufficiency (CAI) in pediatric patients (pts) with Prader-Willi Syndrome (PWS), presented in up to 60% of them, could be a potential cause of sudden death. Moreover it has been suggested that CAI could be aggravated by rhGH recombinant human growth hormone (rhGH) treatment.Objective: To prevent both over- and undertreatment with hydrocortisone, we assessed the p...

Background: Congenital hypopituitarism (CH) is characterized by a deficiency of one or more pituitary hormones. Mutations in the genes coding for transcription factors, such HESX1, involved in the development of the pituitary, determine a highly variable phenotype which may include severe midline defects, septo-optic dysplasia and other congenital abnormalities. A small number of HESX1 variants have been identified in humans. The phenotype sh...

The diagnosis of central adrenal insufficiency (CAI) is challenging. The most popular diagnostic tool in pediatric population remains low-dose (1 μg) cosyntropin (LDC) test. Nevertheless, there is still a need for the CAI markers that might be used on an outpatient setting as a first-line screening. In adult patients morning cortisol and dehydroepiandrosterone sulphate (DHEAS) has been postulated as a possible markers. The aim of the study was to evaluate the usefulness of ...

Purpose: Anorexia nervosa (AN) increases the risk of impaired bone health, low areal bone mineral density (aBMD), and subsequent fractures. This study investigated the long-term effects on bone and biomarkers in young women with AN.Methods: Twenty-five Swedish female AN patients, median age 21.0 years (16.1 to 24.3 years), median BMI 15.4 kg/m2, were included, 22 patients completed a high-energy in-patient treatment for ...

XLH is the commonest inherited form of rickets. Impaired regulation of fibroblast growth factor 23 (FGF23) due to PHEX gene mutation leads to reduced tubular reabsorption of phosphate (TmP/GFR) and 1,25-dihydroxyvitamin D (1,25(OH)2D) synthesis with hypophosphatemia. Patients show rickets and osteomalacia, bone and muscular pain, stunted growth, and reduced quality of life. We report preliminary data on burosumab therapy in a selected sample of Italian patients.<p class="a...

Background: The COVID-19 pandemic has had wide effects on child health globally. Increased prevalence of childhood obesity has been observed during the pandemic. The absence of a formal societal lockdown during the pandemic, made Sweden stand out compared to other countries. Several studies have shown increases in obesity in children during the COVID-19 pandemic. These studies mainly focused on school age children and adolescents in countries that underwent pe...

Background: Pediatric patients with germline pathogenic variants in the tumor suppressor gene PTEN frequently develop cancer and adipose tissue overgrowth in the form of lipomas. While the canonical function of the phosphatase PTEN is to antagonize the growth promoting PI3K pathway, non-canonical PTEN functions e.g. in the nucleus are less well described. To uncover the mechanisms leading to lipoma formation related to PTEN mutations, we previously performed R...

Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by a classic triad of optic nerve hypoplasia, agenesis of septum pellucidum and corpus callosum, and hypoplasia of the hypothalamic-pituitary axis. Up to date, a shared consensus is not available and the diagnosis relies mainly on clinical and neuroradiological findings. Even though few genes have been described as responsible for this syndrome, the precise causes of SOD remain unknown and a combination of...

Context: Pituitary apoplexy is rare endocrine emergency, resulting from ischemia and/or hemorrhage and necrosis of a pituitary tumor (typically an adenoma). Children and adolescents show severe headache sometimes associated with cranial neuropathies from compression of the optic chiasm or the cavernous sinus.Case presentation: A 15-year-old boy was admitted with severe headache and vomiting since 3 days, without visual d...