Searchable abstracts of presentations at key conferences in endocrinology

ea0051oc2.2 | Oral Communications 2 | BSPED2017

Evolving primary adrenal insufficiency masked by adrenal suppression from long-term steroid treatment

Vasista Pooja , Shenoy Savitha

Introduction: Adrenal suppression secondary to long-term steroid therapy is a known risk and this can mask the evolution of primary adrenal insufficiency.Case report: A 6 years old girl with background of recurrent oral ulcers (probable mucocutaneous Behcet’s), Alpha-1-Antitrypsin deficiency, Bronchiectasis, on long-term oral Prednisolone treatment, was noted to have hyponatraemia (Na=122 mmol/l) and hyperkalaemia (K=6.6 mmol/l) during an inter-curr...

ea0051oc3.1 | Oral Communications 3 | BSPED2017

Manifestation of hormone resistance depends on the type of inheritance in Albright’s Hereditary Osteodystrophy

Thanawala Nehal , Shenoy Savitha

Introduction: Albright’s Hereditary Osteodystrophy (AHO, Pseudohypoparathyroidism type 1a) is inherited in an autosomal dominant manner. End-organ resistance is seen, primarily affecting parathyroid hormone (PTH) and thyroid hormones (TSH). The manifestation of hormone resistance, in particular resistance to PTH, depends on whether the mutated allele is inherited maternally or paternally.Cases: A 4 year old male child was incidentally found to have ...

ea0033p74 | (1) | BSPED2013

Comparison of Glucagon vs Clonidine stimulation test to diagnose growth hormone deficiency

Punniyakodi Sadhanandham , Balapatabendi Mihirani , Shenoy Savitha

NICE guidelines (2010) recommend two different GH provocation tests demonstrating subnormal peak GH levels to diagnose isolated GH deficiency (GHD). Choice of stimulation test varies in different units. In our centre, glucagon (GST) and clonidine (CST) stimulation tests are used to make a diagnosis of IGHD. IGF1 is done as part of the initial screening tests.Purpose of this study was to compare the GST vs CST and to establish if IGF1 level provided any e...

ea0027p72 | (1) | BSPED2011

Which test to use for screening glucose intolerance in overweight/obese children?

O'Riordan Stephen , Greening James , Shenoy Savitha

Background: With the increasing prevalence of obesity and related morbidity including glucose intolerance in childhood, there remains a dispute about the best screening test to identify this early. The aim of our study was to determine the prevalence of impaired glucose tolerance (IGT)/type 2 diabetes mellitus (T2DM) in a multiethnic cohort of 100 overweight/obese children and adolescents in our clinic and compare the results of the screening tests.Study...

ea0027p29 | (1) | BSPED2011

Audit on initial management of congenital hypothyroidism

Cheney Sarah , Greening James , O'Riordan Stephen , Downing Melanie , Shenoy Savitha

Aim: To audit the current congenital hypothyroidism (CHT) management practice in our centre.Standards: Guidelines published by UK Newborn Screening Policy and Standards in 2005 and ESPE in 1999.Method: Retrospective audit from 2006 to 2010. The list was compared with the regional newborn screening lab to ensure data collection was complete.Results: Thirty cases were referred to the unit giving local incidence...

ea0023p17 | (1) | BSPED2009

Severe glucorticoid deficiency in 17-hydroxylase deficiency – novel mutation in the CYP17A1 gene

Greening James , Taylor Norman , Arlt Wiebke , Shenoy Savitha

CYP17A1 is a key enzyme of human steroidogenesis, which is unique in that it catalyses two reactions, 17-hydroxylase activity and 17,20 lyase activity. 17-hydroxylase deficiency, a variant of congenital adrenal hyperplasia, results in hypertension and mild glucocorticoid deficiency. Loss of 17,20 lyase activity results in sex steroid deficiency, presenting with undervirilisation in boys (46, XY DSD) and lack of pubertal development in girls. Here we present the cases of two si...

ea0045oc6.8 | Oral Communications 6- Endocrine | BSPED2016

Outcome of hyperthyroidism diagnosed in childhood and adolescence

Thanawala Nehal , Greening James , Levy Miles , Howlett Trevor , Shenoy Savitha

Background: Long term remission in paediatric onset hyperthyroidism (HT) is low at 20–30% compared to 40–50% in adult onset HT. There are very few studies which report long-term follow-up of paediatric onset HT especially into adulthood and factors which can predict a need for definitive treatment in the long-term.Objectives: To evaluate the long-term outcome of paediatric onset HT with follow-up into adulthood and identify any early predictors...

ea0045oc8.3 | Oral Communications 8- Diabetes | BSPED2016

Comparison of Insulin sensitivity measures between overweight and obese children and adolescents of South Asian and White Caucasian ethnicity

Shenoy Savitha , Sundaram Premkumar , Greening James , Tziaferi Vaya

Background: WHO has recommended that adults of South Asian (SA) ethnicity need to have lower body mass index (BMI) cut-off to define overweight and obesity compared to White Caucasians (WC). The background for this is the increasing evidence that obesity-related morbidities are much higher at a lower BMI among SA compared to WC adults.Objective: The aim of our study was to evaluate differences in measures of insulin sensitivity amongst children and adole...

ea0015p331 | Steroids | SFEBES2008

Early truncation of the human CYP17A1 protein results in severe neonatal adrenal insufficiency

Ivison Hannah E , Shenoy Savitha , Arlt Felix J , Krone Nils , Shackleton Cedric HL , Taylor Norman F , Arlt Wiebke

CYP17A1 is a key enzyme of human steroidogenesis, which is unique in that it catalyses two reactions, 17-hydroxylase activity converting pregnenolone and progesterone to 17-hydroxypregnenolone (17Preg) and 17-hydroxy-progesterone, respectively, and 17,20 lyase activity, responsible for the conversion of 17Preg to dehydroepiandrosterone the crucial precursor of human sex steroid biosynthesis. 17-hydroxylase deficiency, a variant of congenital adrenal hyperplasia, results in glu...

ea0027p30 | (1) | BSPED2011

Phenotypic variability of 17α-hydroxylase (CYP17A1) deficiency

Idkowiak Jan , Parajes-Castro Silvia , Shenoy Savitha , Dhir Vivek , Arun Chankramath , Arlt Felix , Malunowicz Ewa , Taylor Norman , Shackleton Cedric , T'sjoen Guy , Cheetham Tim , Arlt Wiebke , Krone Nils

The steroid 17α-hydroxylase enzyme CYP17A1 exerts two distinct activities that catalyze conversion reactions at key branch points in steroidogenesis. CYP17A1 17α-hydroxylase activity is the key step in cortisol synthesis whereas CYP17A1 17, 20 lyase activity generates sex steroid precursors. Inactivating CYP17A1 mutations result in CYP17A1 deficiency (17OHD), a rare form of congenital adrenal hyperplasia that classically presents with combined glucocorticoid and sex ...