ESPE Abstracts

Background: In 1968 a cytogenetics laboratory was established at the University Hospital, Reykjavik and has since then served as the only chromosomal laboratory for all hospitals and physicians in Iceland. Our current aim was to study the physical features, congenital anomalies and various clinical outcomes in Icelandic females, diagnosed with Turner syndrome (TS) for the period of 1968–2012.Method: Data was obtained from hospital records, from all ...

Introduction: Turner syndrome (TS) is a common genetic disorders with an estimated range of occuring in 25–210 per 100 000 liveborn females. In Denmark the prevalence of TS has been found to be 40 per 100 000 liveborn females. Our aim was to study the epidemiology of TS in Iceland for the period of 1968–2012.Methods: Primary source of data were hospital records and records from all pediatric endocrinologists in Iceland. To validate the data the...

Background: H syndrome (OMIM #602783) is an autosomal recessive syndrome resulted from mutations in the SLC29A3 gene, encoding hENT3 protein. Characteristic findings are cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hypogonadism, hyperglycemia/diabetes mellitus, cardiac anomalies, hallux valgus and short stature. Herein we report a girl with multiple endocrinopathies due to H syndrome.Case: Ten year and 5 month old girl was referred be...

Background: IGF1 is a biomarker of GH, and is often used to titrate the dose of GH therapy. However, IGF1 production is regulated by not only GH but also other factors.Objective and hypotheses: We investigated whether the increase in IGF1 at several time points after the commencement of GH therapy could be a predictive factor for the improved growth.Method: We studied 45 pre-pubertal patients with GH deficiency (GHD) that had conti...

Background: Few studies have described the phenotypic spectrum of Septo-Optic Dysplasia (SOD). The aim of this study was to evaluate the range of H-P structural abnormalities and the endocrine morbidity of children with SOD and related disorders.Methods: Retrospective longitudinal single centre study of children with SOD (n:171), Multiple Pituitary Hormone Deficiency (MPHD) (n:53) and Optic Nerve Hypoplasia (ONH) (n:35).<p class="ab...

Background: Johanson-Blizzard syndrome (JBS) is a disease characterized by poor growth, variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, sensori-neural deafness, abnormal hair patterns or scalp defects, and oligodontia. Other features of JBS include pan-hypopituitarism, imperforate anus, and PI. Pancreatic endocrine insufficiency (PI).Case study: AM is a 10 years-old boy, born at term with aplasia of the alae nasi and cong...

Background: Obese adults with normal glucose tolerance (NGT) but 1-h post load glucose (1 hPG)≧155 mg/dl have an increased cardiometabolic risk. In children, preliminary data suggest that 1hPG≧132.5 mg/dl might identify those at higher risk of type 2 diabetes.Objective and hypotheses: To assess whether NGT obese youth with 1hPG ≧132.5 mg/dl (High-NGT) have worse insulin sensitivity and secretion compared to obese youth with 1hPG &#60...

Introduction: Following the onset of the COVID-19 pandemic in spring 2020, the European Registries For Rare Endocrine Conditions (EuRRECa), which is a collaboration between Endo-ERN, ESPE and ESE provided the possibility for registration of cases. Obesity is a risk factor for severe COVID-19 disease course in adults. In children and adolescents, COVID-19 disease course is much milder, but has also been identified as risk factor. As rare genetic obesity disorde...

Background: Childhood brain tumour survivors are at risk of developing endocrine secondary effects throughout lifetime. Transition between childhood and adult care is a critical moment during which patients may stop medical visits and treatments.Objective: To describe endocrine care transition in our cohort of patients with primary brain tumors followed from 2010-2015, who are ≥=18 years old by December 31st</...

Background: Growth hormone (GH) replacement as daily s.c. injections for patients with adults with GH deficiency (AGHD) can be cumbersome. Somapacitan (Novo Nordisk), a once-weekly reversible albumin-binding GH derivative, has been shown in short-term trials to be well tolerated in healthy adults and in patients with AGHD.Objective and hypotheses: This trial was a multinational, multicentre, randomised (2:1), open-label, active-controlle...