Endocrine Abstracts

Background: Estimates for the prevalence of SHOX mutation in children with short stature vary from 2 to 15%. Unless specific clinical and radiological signs are sought these patients can be misdiagnosed as idiopathic short stature. An evidence based clinical scoring system has been published to identify these patients; more recently characteristic radiological signs have also been identified in bone age X-rays. To our knowledge there has not been a survey in the UK ev...

Introduction: Disorders of sex development (DSD) may present in the newborn as ambiguous genitalia. Gender determination and diagnosis must occur as quickly as possible to minimise parental distress. Aim: to evaluate the initial care of babies born with DSD, and identify areas for improvement.Methods: Detailed assessment of 14 neonatal presentations at a tertiary centre between 2012 and 2014 was undertaken. Based on local trust guidelines, several parame...

Introduction: Chromosome 18 rearrangements are postulated to be associated with short stature, of uncertain pathophysiology.Methods: Retrospective case review (short stature with chromosome 18 rearrangement), investigation for GH deficiency (peak GH <7 μg/l on glucagon or ITT, unless otherwise indicated) and determining response to GH treatment.Results: In 13 year six such cases were referred from the geneticists, mean ref...

Objectives: To determine long-term functional outcome following traumatic brain injury (TBI) in childhood.Patients: Longitudinal study of 49 participants with TBI (21 mild, 28 moderate/severe TBI) and 16 healthy controls matched for age, gender and socioeconomic status. Age at TBI (median (range)) 11.8 (1–16) years; 17 were prepubertal, 16 peripubertal, 16 postpubertal. Age at study 19.7 (10–26) years, time post TBI 8.6 (5.8–10.8) years. A...

Background: Hypothalamic obesity (HO) is defined as rapid weight gain, hyperphagia and lack of satiety due to physical hypothalamic destruction. HO does not usually respond to lifestyle modification and no pharmacotherapies are specifically approved for treating HO. Efficacy of glucagon-like peptide-1 (GLP-1) agonists, which suppress appetite via hypothalamic satiety centres, is uncertain in HO.Case series: We commenced ...

Background: We describe a patient with 46XX ovotesticular difference of sex development (DSD) due to 46XX/69XXY gonadal mixoploidy, also an NR5A1 variant, who developed severe early-onset obesity and subsequently a pathogenic MC4R variant was identified.Case Presentation: A term Caucasian baby weighing 3.64kg with non-consanguineous parents presented with atypical genitalia (Prader Stage 2-3) with clitoromegaly, perineal urethral openin...

Background: The GST is commonly used in children and adolescents for the diagnosis of growth hormone (GH) deficiency. Evidence supports the use of sex steroid priming to improve diagnostic accuracy in GH provocation tests. This project, undertaken on behalf of the BSPED Clinical Committee, aims to identify current practice and develop consensus in sex hormone priming and GST protocols for the development of standardised UK protocols.Method: (1) Audit of ...

Background: Reduced bone mineral density (BMD) z-scores from Dual energy X-Ray absorptiometry (DEXA) have been reported in childhood HSCT survivors. However, BMD z-scores are unreliable in patients with short stature.Objective: To investigate the influence of HSCT/TBI on size-corrected BMD in childhood leukaemia survivors.Method: Post-pubertal leukaemia survivors (16–26 years) treated with HSCT/TBI (10–1...

Background: Adult survivors of childhood leukaemia treated with bone marrow transplantation and total body irradiation (BMT/TBI) have an increased risk of diabetes mellitus (DM) disproportionate to their level of adiposity or other recognised risk factors. Post prandial hyperglycaemia due to reduced β-cell reserve after irradiation will be missed by fasting glucose (FG) levels. However, the UK National Institute of Clinical Excellence (NICE) screening guidelines recommend...

Background: Adult survivors of childhood acute lymphoblastic leukaemia (ALL) treated with bone marrow transplantation (BMT) and total body irradiation (TBI) have increased risk of impaired glucose tolerance (IGT) and diabetes mellitus (DM). Insulin resistance (IR) has been described, but effects of TBI on pancreatic growth and β-cell function have not been previously reported.Method: Two groups of childhood ALL survivors were studied: Group 1, treat...