Endocrine Abstracts

Background: Measuring testicular volume (TV) by orchidometer is a standard method of male pubertal staging. Previously we have developed a simulation model for TV estimation with different sized silicon testes housed in latex scrotum and displayed on paediatric mannequins. When used in a study of 215 paediatric endocrinologists TV was measured accurately on only 33% of occasions. Intra-observer reliability was also lacking with participants giving different estimations for the...

Introduction: Children and young people with Turner Syndrome have regular follow up with a paediatric multidisciplinary team to monitor growth, puberty and cardiac comorbidities. As these young women transition to adult care, they need ongoing follow-up for surveillance of potential morbidity and reproductive issues. Following publication of the International Turner Syndrome Consensus Group guidelines on transitional care, a review of current clinical practice in our tertiary ...

Background: Thymus transplantation is undertaken for conditions associated with severe immunodeficiency. These comprise various genetic and syndromic associations including 22q deletion syndrome, CHARGE association, diabetic embryopathy, and other rarer conditions. Some of these conditions are associated with hypoparathyroidism and therefore hypocalcaemia. There are no established guidelines on the management and prevention of hypocalcaemia during the transplant period.<p ...

Background: Congenital Hyperinsulinism (CHI) is characterized by the unregulated secretion of insulin in the presence of hypoglycaemia. The mutations in ABCC8 and KCNJ11, which encode the sulfonylurea receptor 1 (SUR1) and potassium inward-rectifying 6.2 (Kir6.2) subunits of ATP-sensitive potassium channel (K channel), are the most common identified cause of the condition.Aims: The aim is to use the novel CRISPR/Cas9 gene editing technique to create a KO...

Background: Fertility preservation (FP) amongst transgender adolescents (TA) is receiving more attention as individuals are transitioning at younger ages. Parents have a key role at exploring options for their children and are usually the ones responsible for consenting to interventions. Our aim was to explore parent’s attitudes regarding their offspring parenthood goals, FP counselling and perceived barriers to successful gamete banking.Methods: Pa...

Introduction: One tenth of children worldwide are obese and disturbance in pubertal progression is one of the unpleasant health consequences of adolescent obesity. Data on pubertal hormones in obese adolescents are scarce and contradictory.Methods: This study was a cross-sectional, case-control study conducted on 120 participants; 60 randomly chosen obese adolescent males and 60 age and sex matched controls. All participants had measurements of their wei...

Background: Low vitamin D levels have been linked to stunted growth, lower bone mineral density and health. Optimal levels of vitamin D are not adequately defined and guidance regarding supplementation is limited.Aim: To identify vitamin D levels in a cohort of Caucasian children aged 0–16 years, and describe how preterm birth, obesity, age and malabsorptive conditions correlate with sub-optimal levels.Methods: We obtained 368...

Introduction: Congenital Hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in neonates, infants and children with an incidence of 1/25000-1/50000 live births. HNF4A and HNF1A mutations lead to maturity onset diabetes of the young (MODY 1 and 3 respectively) with a potential for causing CHI in the newborn period. Whilst HNF4A mutations causing CHI is well known, reports on CHI due to HNF1A mutations are very limited.</...

Introduction: Hypoglycaemia is a common paediatric medical emergency, hence prompt treatment with appropriate investigations of causes is essential.Aims: (1) Review current practice of investigating hypoglycaemia in children; (2) Improve awareness of local guidelines; (3) Overcome practical hurdles when investigating hypoglycaemiaMethods: • Retrospective audit of investigation of hypoglycaemic patients over a year using clinic...

Background: Prader Willi Syndrome (PWS) is a disorder of genetic imprinting caused by uniparental disomy of chromosome 15. It can present in the neonatal period with dysmorphic features, hypotonia and feeding difficulties. In the UK, recombinant human Growth Hormone (rhGH) is licensed for use in PWS, improving body composition and motor development, as well as final adult height. Some studies have also demonstrated an improvement in respiratory function in children with PWS. T...

Introduction: Empirical research studies suggest that continuous glucose monitoring systems (CGMS) are safe and could optimize neonatal hypoglycaemia management. However, they need to be tested within resource-limited, time-constrained clinical practice. CGMS was piloted in our Level 3 Neonatal Intensive Care Unit (NICU) in June 2017. Five key barriers to its effective implementation were identified: 1) Lack of NICU staff confidence in device usage 2) Infant discomfort during ...

Introduction: Congenital generalized lipodystrophy (CGL) is a heterogeneous, rare, monogenic condition, characterized by loss of subcutaneous fat, muscular hypertrophy, acanthosis, hepatomegaly and impaired lipid metabolism. Four types have been identified, caused by mutations in AGPAT2, BSCL2, CAV1 and, PTRF, respectively. Mutations in PTRF cause CGL type 4, characterized by muscular dystrophy, myopathy, cervical spine instability,...