Endocrine Abstracts

Background: Small for gestational age (SGA) and short stature at birth can be defined as birth weight (BW) and birth length (BL) ≤−2 S.D.. Affected neonates can be classified as: i) SGA, ii) Short, iii) SGA + Short. Catch-up growth occurs by age 6 months in 90–95% of Short and SGA + Short infants. A minority remain short after age 2–4 years when the lack of data on BL and parental height (PH) renders assessment difficult.<p class="abste...

Background: The Scottish Genital Anomaly Network (SGAN) is a national managed clinical network for patients with a suspected disorder of sex development (DSD). The SGAN register contains data on patients with DSD in Scotland. Factors that influence the decision to perform a karyotype in these patients are unclear.Objectives: To explore the SGAN register to study the factors that influence the decision to perform a karyotype.Methods...

This gentleman was diagnosed with hyperparathyroidism at the age of 34 and was found to have multiple manifestations of MEN1.Hyperparathyroidism: He was diagnosed with hyperparathyroidism and underwent a parathyroidectomy with removal of 2 glands. Four years later calcium levels were raised once again and two further hyperplastic glands were removed, with cure of his hypercalcaemia.Gastrinoma and other pancreatic islet cell tumours...

A 23-year-old woman presented in May 2018 with acute left-sided hemiparesis following increasingly frequent episodes of morning drowsiness with associated weight loss. She had no significant past medical history or family history. Brain imaging excluded intracranial pathology. Blood tests during a spontaneous hypoglycaemic episode (1.5 mmol/l) identified significant hyperinsulinaemic hypoglycaemia [insulin 392 pmol/l (18–173) and C-peptide 3913 pmol/l (370–1470)]. MR...

Background: Bariatric surgery has been proven to produce substantial weight loss and amelioration of metabolic syndrome-associated co-morbidities. However, at five-year follow-up, only 20–40% of patients maintain diabetes remission and 40% of patients return to their baseline weight. The limiting factor in treating refractory diabetes following obesity surgery is the lack of knowledge about its aetiology.Aims: Evaluate the eating pattern and clinica...

Introduction: Thyroid function tests are frequently undertaken in children with non-specific symptoms suggestive of thyroid dysfunction. Infrequently, susceptibility of automated thyroid hormone assays to interference may generate misleading results, with the potential for inappropriate diagnosis and management. We report an unusual case with apparent subclinical hyperthyroidism, due to negative interference in particular TSH assay platforms, with an underlying genetic basis.<...

Introduction: Mutations in the succinate dehydrogenase gene (SDH) predispose to the development of paraganglioma (PGL) which arise from parasympathetic and extra-adrenal sympathetic-associated chromaffin tissues. Identification of an index case results in family ‘cascade’ screening, often of asymptomatic individuals.Aims: To identify prevalence of PGL tumours and elevated plasma metanephrines at first scre...

Introduction: Mutations in the succinate dehydrogenase gene (SDH) predispose to the development of paraganglioma (PGL) which arise from parasympathetic and extra-adrenal sympathetic-associated chromaffin tissues. Identification of an index case results in family ‘cascade’ screening, often of asymptomatic individuals.Aims: To identify prevalence of PGL tumours and elevated plasma metanephrines at first scre...

Background: Pathogenic variants in genes encoding Succinate Dehydrogenase subunits B and D (SDHB/SDHD) predispose to Phaeochromocytoma and Paraganglioma (PPGL). Cascade genetic screening identifies relatives at risk and allows surveillance screening to enable early detection of PPGLs.Methods: Retrospective analysis of genetic databases and hospital records between January 2000 and December 2018 identified relatives carrying SDHB and <em...

Background: The 3-year part of this trial investigated the effect of liraglutide 3.0 mg, as an adjunct to diet+exercise, in delaying onset of T2D (primary endpoint) in adults with prediabetes and obesity (BMI ≥30 kg/m2) or overweight (≥27 kg/m2) with comorbidities.Methods: Participants were randomised 2:1 to once-daily subcutaneous liraglutide 3.0 mg or placebo plus 500 kcal/day deficit diet and 150...