Searchable abstracts of presentations at key conferences in endocrinology

ea0039oc5.2 | Oral Communications 5 | BSPED2015

Genetic characterisation of children with short stature and GH or IGF1 insensitivity by single gene and whole exome sequencing

Shapiro Lucy , Savage Martin , Metherell Lou , Storr Helen

Background: GH insensitivity (GHI) encompasses growth failure, low serum IGF1 and normal/elevated serum GH. IGF1 insensitivity results in pre- and postnatal growth failure with normal/relatively high IGF1 levels.Objective: To undertake candidate gene (CGS) and whole exome (WES) sequencing to obtain a genetic diagnosis in children with short stature and GHI or IGF1 insensitivity.Methods: As a referral centre for GHI genetics, since ...

ea0045oc6.6 | Oral Communications 6- Endocrine | BSPED2016

Predictive factors of an underlying genetic defect in children with short stature and suspected growth hormone insensitivity (GHI)

Chatterjee Sumana , Shapiro Lucy , Davies Kate M , Savage Martin O , Metherell Louise A , Storr Helen L

Background: GH insensitivity (GHI) presents with growth failure, IGF-1 deficiency and normal/elevated GH (basal >5 μg/l and/or peak >10 μg/l). GHI encompasses a spectrum of clinical and biochemical abnormalities. Associations between phenotypic characteristics and genetic defects remain obscure.Objective: Identify phenotypic predictors of underlying genetic defects in GHI.Methods: In total of 102 children (62M) me...

ea0036P11 | (1) | BSPED2014

The accuracy of 24-h urinary free cortisol as a screening test in the diagnosis of Cushing's syndrome in children

Shapiro Lucy , Elahi Shezan , Bailey Joe , Martin Lee , Drake William M , Savage Martin O , Storr Helen L

Background: Endogenous Cushing’s syndrome (CS) in children remains a challenge to diagnose and exclude. 24-h urinary free cortisol (UFC) measurements are a convenient, non-invasive test for paediatric patients.Objective: To assess the screening accuracy of 24-h UFC measurements in paediatric patients referred to our centre for evaluation of possible CS.Methods: A retrospective review of children referred to our centre between ...

ea0051oc5.6 | Oral Communications 5 | BSPED2017

Phenotypic spectrum and response to recombinant human IGF1(rhIGF1) therapy in patients with homozygous intronic pseudoexon ()GH receptor mutations

Chatterjee Sumana , Rose Stephen , Mushtaq Talat , Clayton Peter , Ten Svetlana , Bhangoo Amrit , Kumbattae Uma , Dias Renuka , Shapiro Lucy , Metherell Louise , Savage Martin , Storr Helen

Objectives: Patients with homozygous 6Ψ mutations have GH insensitivity (GHI). We previously described spectrum of clinical and biochemical phenotypes of 11 6Ψ patients (David et al. JCEM 2007;92:655) and now report 9 additional patients. Response to rhIGF-I therapy has not previously been assessed.Methods: 20 6Ψ patients (12 M, 11 families, mean age 4.0±2.2 year) were diagnosed genetically in our centre. Continuous ...

ea0066oc4.7 | Oral Communications 4 | BSPED2019

Novel variants in the Leucine-zipper-like transcription regulator 1 (LZTR1) gene cause Noonan syndrome phenotype by upregulation of the RAS-MAPKinase pathway

Chatterjee Sumana , Bertola Debora , Agwu Chizo , Karantza Maria , Cottrell Emily , Shapiro Lucy , Maharaj Avinaash V , Williams Jack , Savage Martin O , Gaston-Massuet Carles , Metherell Louise A , Storr Helen L

Objectives: Noonan Syndrome (NS) is an autosomal dominant multi-system disorder characterised by short stature (SS), distinctive facial features and cardiovascular abnormalities. Mutations in multiple genes regulating the RAS-MAPK pathway have been identified in NS including 5 recently described novel LZTR1 variants. We identified 2 novel LZTR1 variants in patients with features of growth hormone insensitivity and NS. The molecular function of LZTR1 ...

ea0044p5 | Adrenal and Steroids | SFEBES2016

Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers

Tufton Nicola , Shapiro Lucy , Srirangalingam Umasuthan , Richards Polly , Sahdev Anju , Kumar V K Ajith , Chew Shern L , Drake William M , Storr Helen , Akker Scott A

Introduction: Germline mutations in succinate dehydrogenase subunit B (SDHB) are one of the commonest findings in familial paraganglioma (PGL) syndromes and account for one quarter of PGLs associated with germline mutations. Although the penetrance is low, the malignancy conversion is high; up to 30%. With the increasing availability of genetic testing and the identification of ‘asymptomatic carriers’ of the SDHB gene mutation, it is therefore impor...