Searchable abstracts of presentations at key conferences in endocrinology

ea0039ep92 | Obesity | BSPED2015

Psychological sequelae in obese paediatric patients and predictors for weight loss

Gallen Hannah , Banerjee Indraneel , Clayton Peter E , Ehtisham Sarah , Nicholson Jacqueline , Padidela Raja , Patel Leena , Tobin Hannah , Skae Mars

Introduction: There is limited data on the psychological sequelae of obesity in paediatric patients.Aims/methods: We aimed to assess the prevalence of psychological comorbidities in obese paediatric patients. Internationally validated self-report questionnaires were offered to 19 patients and their parents from a tier three paediatric obesity clinics. These included the Paediatric Index of Emotional Distress (PI-ED); Beck Youth Inventory exploring self-p...

ea0036oc4.1 | Oral Communications 4 | BSPED2014

Utility of basal LH in comparison to the GnRH test for identifying central precocious puberty in girls

Shepherd Elizabeth , Patel Leena , Banerjee Indi , Clayton Peter , Ehtisham Sarah , Ivison Fiona , Padidela Raja , Skae Mars , Tetlow Lesley

Background: Harrington et al.1 suggest that basal LH of ≥0.3 IU/l as measured by ICMA (Immulite 2500) has 100% specificity and 90.5% sensitivity in identifying progressive central precocious puberty (CPP).Aims: To examine the utility of basal LH measured with the DELFIA assay for identifying CPP in girls.Methods: All girls under age 9 years (median 7.3 years) investigated for precocious puberty with a GnRH...

ea0033p4 | (1) | BSPED2013

Subnormal Synacthen testing in infants <6 months age: a review of diagnoses and outcomes

Tan Timothy Shao Ern , Chidanandaswamy Rajesh , Ivison Fiona , Skae Mars , Padidela Raja , Ehtisham Sarah , Clayton Peter , Banerjee Indi , Patel Leena

Background: The standard dose Synacthen test (SDST) is commonly used to identify glucocorticoid deficiency. A subnormal SDST in young infants raises the possibility of adrenal insufficiency (AI) due to pathology such as congenital adrenal hyperplasia (CAH). A physiological delay in maturation of adrenal glucocorticoid secretion may be another explanation especially in asymptomatic infants with a transiently subnormal SDST.Aims: To review the diagnoses an...

ea0033p7 | (1) | BSPED2013

Audit on the characteristics and management of patients in a large tertiary hospital paediatric adrenal clinic

Knox Ailie , Ehtisham Sarah , Clayton Peter , Jones Julie , O'Shea Elaine , Patel Leena , Skae Mars , Banerjee Indie , Padidela Raja

Adrenal insufficiency (Adr-I) and congenital adrenal hyperplasia (CAH) are important conditions requiring specialist attention and management. Recent CAH genotype–phenotype studies have linked mutations with enzyme functioning and disease severity. Accurate diagnosis for the cause of adrenal insufficiency and the genetic cause of CAH is vital as it impacts management and prognosis.Methods: We audited patients with Adr-I and CAH seen in outpatients f...

ea0030oc2.7 | Oral Communications 2 | BSPED2012

Growth, GH–IGF1 status and response to r-hGH therapy in 3-M syndrome, related to mutation status

Sakhinia Faezeh , Hanson Dan , Murray Philip , Kirk Jeremy , Cole Trevor , Skae Mars , Banerjee Indi , Padidela Raja , Patel Leena , Clayton Peter

Background: 3-M syndrome is associated with severe proportionate pre- and postnatal growth restriction, and is caused by mutations in CUL7, OBSL1, or CCDC8 genes.Aims and methods: To define baseline growth and GH–IGF1 axis status as well as response to r-hGH in relation to mutation status in 3-M children, using retrospective analysis of data from clinical notes.Results: 50 individuals (19 CUL7, 19 <...

ea0030p33 | (1) | BSPED2012

Karyotype-phenotype correlations in height and pubertal outcomes of Turners patients

Page Angela , O'Shea Elaine , Jones Julie , Banerjee Indi , Padidela Raja , Amin Rakesh , Skae Mars , Patel Leena , Clayton Peter , Ehtisham Sarah

Introduction: Turner syndrome (TS) is caused by the absence of all or some of the second sex chromosome. Consequences include short stature and ovarian failure. This study aimed to characterise karyotype-phenotype correlation in patients with TS.Methods: This was a retrospective audit of TS patients from the young person’s endocrine clinic (YPC). The karyotype, final height, pubertal progress and treatment were recorded for each patient and outcomes...

ea0030p58 | (1) | BSPED2012

Key efficacy issues in the use of recombinant human GH in children with prader–willi syndrome

Thornton Mary , Banerjee Indi , Padidela Raja , O'Shea Elaine , Jones Julie , Amin Rakesh , Patel Leena , Ehtisham Sarah , Clayton Peter , Skae Mars

Prader-Willi syndrome (PWS) is a rare genetic condition characterised by hypotonia, early feeding difficulties, hyperphagic obesity, hypogonadism and short stature; with an incidence between 1/15 000 and 1/25 000 live births in the UK. It is caused by failed expression of paternally inherited genes in the imprinting region of chromosome 15q11.2–q13. Recombinant human GH (rhGH) is the main pharmacological treatment used in PWS.Aims: We aimed to revie...

ea0027oc1.6 | Oral Communications 1 | BSPED2011

Twenty novel mutations in nicotinamide nucleotide transhydrogenase (NNT) causing FGD

Metherell Lou , Meimaridou Eirini , Kowalczyk Julia , Guasti Leo , Hughes Claire , Mann Nicholas , Banerjee Ritwik , King Peter , Clark Adrian

Familial glucocorticoid deficiency (FGD;OMIM 202200) results from the inability of the adrenal cortex to produce cortisol in response to ACTH stimulation. Half of all cases are caused by mutations in MC2R, MRAP or STAR. SNP array genotyping of FGD patients of unknown aetiology mapped a disease locus to chromosome 5p13-q12. Targeted exome sequencing of 5p13-q12 in one patient identified a homozygous mutation, p.Ala533Val, in nicotinamide nucleotide transhyd...

ea0024bc1.4 | (1) | BSPED2010

Lessons from Klinefelter syndrome (47,XXY): a common DSD but with significant variation in presentation

Gopal-K J S , Patel L , Ehtisham S , Amin R , Hennayake S , Banerjee I , Clayton P E , Skae M S

Background: Klinefelter syndrome (KS) is the commonest sex chromosomal disorder. Characteristic features include male phenotype with hypogonadism and progressive testicular failure, gynaecomastia and learning difficulties. The association between mediastinal germ cell tumours (GCT-M) and KS is well established, with KS occurring in 20% of GCT-M patients and the reported incidence of GCT-M in KS being 1.5 per 1000 (Nichols, 1991). Genital anomalies are also known to be rarely o...

ea0024p29 | (1) | BSPED2010

Cardiac abnormalities in children with congenital hyperinsulinism (CHI)

Petkar AS , Ciotti G , Rigby L , Patel L , Ehtisham S , Clayton P E , Banerjee I , Skae M , Didi M , Blair J

Congenital hyperinsulinism of Infancy (CHI) can be associated with cardiac problems such as septal hypertrophy and reversible hypertrophic cardiomyopathy (Breitweser et al. 1980, Harris et al. 1992); however, the prevalence and range of cardiac abnormalities in CHI has not been well investigated.Aims and methods: With National Research Ethics Service approval and consent, we retrospectively reviewed the prevalence of cardiac abnormalities in 48 children ...