Endocrine Abstracts

Introduction: Prader–Willi Syndrome (PWS) is a rare genetic disorder due to loss of paternally inherited genes on chromosome 15q11-13. It is characterised by neonatal hypotonia, childhood hyperphagia and obesity, hypogonadism, cognitive and behavioural disabilities, and development of scoliosis. PWS multidisciplinary (MDT) clinics were introduced from 2004 at Birmingham Children’s Hospital, a tertiary paediatric centre. This enabled centralised coordination of growth...

Introduction: Prader–Willi Syndrome (PWS) is a rare genetic disorder due to loss of paternally inherited genes on chromosome 15q11-13. It is characterised by neonatal hypotonia, childhood obesity, hypogonadism, cognitive and behavioural disabilities, and development of scoliosis. We aimed to review the impact of growth hormone (GH) doses, scoliosis and IGF1 levels on height gain in children with PWS.Methods/design: Retrospective observational study ...

Introduction: Central precocious puberty (CPP) is rarer in boys than girls, therefore evidence is limited for interpreting LHRH testing in boys. Current recommendations also suggest use of basal LH.Objectives: i) Test efficacy of using basal LH and testosterone for predicting CPP in boys. ii) Establish diagnostic cut-offs for LHRH testing in boys.Method: Retrospective data collection of LHRH test results in 67 boys aged 2–10 y...

Introduction: Wolfram Syndrome (DIDMOAD) is an autosomal recessive disease caused by mutations in WFS1 gene, resulting in childhood onset diabetes mellitus and optic atrophy. There have been limited functional assays for WFS1 genetic variants. We aimed to investigate WFS1 protein expression in patients and relate this to their genotype and phenotype.Methods: Nine patients from a regional paediatric centre consented to skin biopsies. Six patients had comp...

Introduction: Current recommendations for diagnosing central precocious puberty (CPP) in girls suggest using basal LH levels >0.3 IU/l to predict progression into CPP and using stimulated LH values >5 IU/l in the LHRH test to diagnose CPP. Our objectives were to test the efficacy of using basal LH values as well as to establish diagnostic cut-offs for LHRH tests.Method: Retrospective data collection of LHRH test results of 173 girls between 2 and...