Endocrine Abstracts

Background: Prader-Willi syndrome (PWS) results from loss of paternally imprinted gene(s) from the 15q 11-13 region and is characterised by weight faltering during early childhood due to hypotonia, followed by obesity due to onset of the hyperphagic phase.Aim of study: To determine the presence of an age zone during which excessive weight gain is particularly likely, in order to target counselling and dietary input.Method: Body mas...

Background: Individuals with Down Syndrome are at increased risk of developing thyroid disease. Given thyroid disorders represent a preventable cause of neurodevelopmental impairment, early detection and treatment are essential to maximise cognitive abilities in this already impaired population. This service evaluation sought to assess the efficacy of the Down Syndrome Hypothyroid Screening programme in its uptake and subsequent diagnosis of hypothyroidism.<p class="abstex...

Introduction: Children with Prader-Willi syndrome (PWS) show alterations in infantile, childhood and pubertal growth. Growth Hormone (GH) therapy is recommended due to reported improvements in height velocity (HV) and body composition.Methods: Height SDS (HSDS), BMISDS and HVSDS of children attending a dedicated PWS clinic, 2000–2017, were analysed. To identify changes in growth we compared growth parameters between 2000–2012 and 2013–2017...

Introduction: In Prader-Willi Syndrome (PWS), multidisciplinary evaluation is recommended both prior to GH initiation and at regular intervals during treatment.Methods: We reviewed the changes in GH use and the investigations performed prior and during GH therapy, in 58 children, from 2000 to 2017. International consensus recommendations were used as the gold standard of care. Data was analysed to compare four (2000–2004, 2005–2008, 2009–2...

Background: Transition is an important stage in the care of a young person with a long-term endocrine condition.Objective: To explore current services for young people (YP) with endocrine conditions from the perspective of paediatric and adult endocrinologists, and YP and their parents using their services.Methods: There were two components:- i). service questionnaire for completion by paediatric and adult endocrinologists ii). &#1...

Introduction: Williams syndrome (WS) is a multi-systemic disorder caused by a deletion in the region 7q11.23. Childhood endocrine follow-up is mainly aimed to monitor hypercalcemia and thyroid function. A high prevalence (63–71%) of impaired glucose tolerance (IGT) and diabetes mellitus (DM) in young adults with WS is reported. WS guidelines recommend Oral Glucose Tolerance Test (OGTT) starting from 30 years of age. We demonstrate evidence of IGT and DM in WS at a much ea...

Background: In Scotland median age at notification with elevated capillary (c) TSH (>25 initially or >8 μ/l on repeat testing) is 10 (range 3–35) days. If cTSH elevation is >100 μ/l decompensated hypothyroidism (moderate: free (f) T4 5 −<10, severe: <5 pmol/l) is likely and thyroxine treatment should start without delay. If TSH elevation is mild the clinician may prefer to wait for venous (v) fT4 result and observe the infant’s pro...

Introduction: Patients with mutations in the Succinate Dehydrogenase Complex Subunit B (SDHB) gene are predisposed to neuroendocrine tumours such as parangangliomas, phaeochromocytomas and gastrointestinal stromal tumours. Individuals who are carriers but have no manifestation of disease require regular surveillance. Our tertiary endocrine service provides follow up/surveillance for these patients and we cover a wide geographical area throughout the West of Scotland.<p cla...

Background: Congenital leptin deficiency (CLD) is characterized by severe early-onset obesity due to hyperphagia and impaired satiety. The impact of obesity in obstructive sleep apnoea hypopnoea syndrome (OSAHS) was originally reported as mechanical, but recent data suggest that adipokines may influence central ventilation. We highlight that treatment with recombinant human leptin (RHL) in CLD with OSAHS improves ventilation before weight loss.Case prese...

Background: In adults, hypoparathyroidism is a rare, but recognised complication of radioactive Iodine therapy. Hypothyroidism has been reported in neonates who have been exposed to Iodine131 in-utero, however, only one case of neonatal hypoparathyroidism secondary to maternal Iodine131 therapy has been described in the literature. To our knowledge this is the first case in the UK.Case presentation: A 27-year-old woman received two ...