ESPE Abstracts

Background: Normal thyroid function is necessary for the optimal growth promoting effects of GH. Changes in the hypothalamic-pituitary-thyroid (HPT) axis following GH have been reported in subjects initially thought to be euthyroid. A specific group of patients, children with Prader-Willi syndrome (PWS), are thought to have a ‘vulnerable’ HPT axis.Objective and hypotheses: To evaluate the impact of paediatric GH therapy on thyroid hormone statu...

Introduction: Adequate nutritional status of adolescents is essential for their healthy development, with health repercussions in both short-term and adult life.Objective: To analyze the temporal trends of the BMI of Brazilian adolescents (10 to 19 years old) between 2010 and 2022.Patients and methods: Descriptive ecological study. Data obtained from e-SUS Primary Care. The BMI cat...

Context: Biallelic RNPC3 variants have been reported in a few patients with growth hormone deficiency, either in isolation or in association with central hypothyroidism, congenital cataract, neuropathy, developmental delay/intellectual deficiency, hypogonadism and pituitary hypoplasia.Objective: To describe a new case with syndromic congenital hypopituitarism and diffuse brain atrophy due to RNPC3 mutations and to compar...

Background: Hyperinsulinaemic hypoglycaemia (HH) is the most frequent cause of severe and persistent hypoglycaemia in infancy. Prompt recognition and successful management are critical to ensure prevention of hypoglycaemic brain injury and neurological sequelae. The incidence of HH varies from 1:50,000-1:2,500, and mutations in at least 12 different genes involved in β-cell insulin release have been described. Recently, the spectrum of genetic causes for HH has been exten...

Background: BRAF is a component of the RAS/MAPK signalling pathway; germline mutations in components of this pathway are associated with congenital abnormalities such as Cardio-Facio-Cutaneous (CFC), Noonan and Costello Syndromes. These syndromes, known as RASopathies, are characterised by variably penetrant central nervous system, cardiac and facial abnormalities. Importantly, short stature and delayed puberty have been associated with these syndromes, as have featur...

Background: The European iNCGS registry aims to collect long-term safety and effectiveness information in paediatric patients receiving NutropinAq® for growth failure.Objective and hypotheses: To report patient baseline characteristics and exposure to NutropinAq® per country.Method: International, multicentre, open-label, non-interventional, post-marketing-surveillance study.Results: As of 31-Dec-20...

Background: Pituitary gland duplication is a very rare developmental abnormality. It is often associated with other midline anomalies including cleft palate, spinal cord and corpus callosum defects, termed duplication of the pituitary gland-plus syndrome. Of the only 40 cases reported in the literature, most are in females and are often associated with precocious puberty. Duplication of the pituitary gland may arise from blastogenesis defects, with splitting o...

Background: Adrenal cortical carcinoma (ACC) in children is rare and aggressive, with the mainstay of treatment being surgical resection, although there have been recent improvements in outcomes with chemotherapy. Further characterisation of the presenting features and biochemical markers are needed to support earlier diagnosis. Refractory hypertension related to high cortisol concentrations prior to surgery, and post-operative decrease in cortisol can be chal...

Background & Objective: Recombinant human insulin like growth factor 1 (rhIGF1) therapy is the only treatment available for primary IGF1 deficiency and related disorders. However, it’s efficacy in promoting growth is controversial and needs cautious monitoring for adverse effects. The aim of this study was to determine the long-term efficacy and safety profile of rhIGF1 therapy.Methods: Retrospective review of a...

Introduction: The survival rates for childhood cancer have significantly increased over the past decades but the management of treatment-related complications remains challenging. Thus, the introduction of novel drugs requires careful investigation of potential off-target side effects. The developing skeleton is severely affected by the anticancer treatment which may result in growth retardation and short stature. Venetoclax is a selective Bcl-2 inhibitor whic...