ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Arch Dis Child 2018;103:637-642Management of thyrotoxicosis in children and adolescents remains challenging and treatment varies considerably among institutions. The patient’s age, clinical status and likelihood of remission should be considered when counseling patients and parents. Nevertheless, individual prognosis of antithyroid drug treated Graves’ diseas...

To read the full abstract: J Pediatr 2017; 187:206-12SRS is a clinically heterogeneous imprinting disorder. Although the understanding of its genetic basis has gradually advanced, about 40% of patients still have an unknown molecular defect. In subjects with unknown etiology, diagnosis is primarily clinical, based upon the Netchine-Harbison scoring system (NH-CSS) [31]. How...

To read the full abstract: Proc Natl Acad Sci USA 2018; 115(17) E3914-E3921Pediatric endocrinologists have long known that chronic disease, such as severe asthma or inflammatory bowel disease, leads to slower growth and short stature. But it is not always clear whether this is due to the disease (decreased oxygen to the tissues, decreased absorption of calories, infections), to the treatment (c...

Brief summary: The sodium/iodide symporter (NIS) is the first and limiting step for thyroid hormone synthesis (1). NIS is located at the basolateral membrane of the thyroid follicular cells. NIS translocates iodide against its electrochemical gradient from the blood into the cytosol of the thyroid follicular cell by a co-transport with sodium. Besides iodide, the sodium/iodide symporter has also further substrates such as the environmental endocrine disruptor perchlorate, or s...

Brief summary: Steroid analysis using LC-MS/MS in association with clinical parameters may be used to develop a diagnostic score that could successfully differentiate premature pubarche (PP) from non-classic congenital adrenal hyperplasia (NCCAH), thereby obviating the need for ACTH stimulation testing.Late onset, non-classic congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency (21-OHD) should be ruled out in children with premature pu...

Brief summary: This single-centre retrospective study analysed gonadal function in 62 patients (41 males) with medulloblastoma, treated between 1987 and 2021. The aim of the study was to characterize gonadal function and identify risk factors for gonadal failure.Survival rates of patients with medulloblastoma have significantly improved with the combination of many therapeutic approaches, such as adjuvant chemotherapy, craniospinal irradiation (CSI), sur...

Brief summary: The authors used data from the Global Burden of Disease 2019 to examine the incidence, disability adjusted life years and mortality of early onset type 2 diabetes T2D) in those 15–39 years of age. This showed that early onset T2D is a growing global health problem in adolescents and young adults, particularly in low-middle- and middle-income countries.Early onset of type 2 diabetes (T2D) is associated with longer lifetime exposure hyp...

In brief: This multinational, randomised, double-blind, placebo-controlled, dose-escalation Phase 2 study evaluated the safety and efficacy of TransCon CNP (navepegritide), a C-type natriuretic peptide (CNP) analogue designed to allow continuous CNP exposure with once-weekly dosing, in 42 children with achondroplasia aged 2-10 years. The study was sponsored by Ascendis Pharma.Commentary: Achondroplasia is one of the most common constitutional bone disord...

Brief Summary: This study investigated daily glucose patterns in young children with classic congenital adrenal hyperplasia (CAH) and their relation with hormonal circadian rhythm.Comment: The aim of treatment in classical CAH is to provide adequate glucocorticoid and – when necessary – mineralocorticoid replacement to prevent adrenal crises and suppress excess adrenal androgen production. Glucocorticoids regulate glucose homeostasis, and patie...

Brief Summary: The European Association for the Study of Obesity (EASO) initiated this online Delphi study. They invited an expert panel of n=194 stakeholders, including policymakers, healthcare professionals, people living with obesity, and researchers from 30 countries to evaluate proposed statements on obesity to create a standardised language. Based on the understanding of obesity as an adiposity-based chronic disease, consensus was achieved on 54 statements categorized in...