Searchable abstracts of presentations at key conferences in endocrinology
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38th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Oral Communications

Oral Communications 2 (Brief Communications)

ea0024oc2.1 | Oral Communications 2 (Brief Communications) | BSPED2010

Space-time clustering of elevated TSH levels on newborn screening

Pearce M , McNally R , Day J , Korada M , Turner S , Cheetham T

Introduction: Studies have reported a rising incidence of congenital hypothyroidism (CHT) although the pathophysiology of most cases is unknown. A rising incidence is not simply a reflection of changing assay methodology and environmental factors may have an aetiological role. If so, then cases may exhibit space-time clustering, where cases occur at similar times and close proximities to other cases.Methods: We investigated whether there is evidence of s...

ea0024oc2.2 | Oral Communications 2 (Brief Communications) | BSPED2010

An unbalanced maternal diet in pregnancy is associated with epigenetic effects in the offspring

Drake A , Knox R , Seckl J , Reynolds R

Epigenetic dysregulation may be one mechanism underpinning the link between early life conditions and later cardiometabolic risk. In animal models, environmental manipulations including modified maternal diet change DNA methylation and offspring phenotype. Manipulations altering the epigenetic state reverse the phenotype suggesting causality. We have previously reported higher blood pressure (BP) and cortisol in an adult cohort whose mothers were advised to eat a high-protein,...

ea0024oc2.3 | Oral Communications 2 (Brief Communications) | BSPED2010

The phenotype of late-presenting congenital hyperinsulinism

Ilangaratne C , Rigby L , Skae M , Flanagan S , Ellard S , Banerjee I , Clayton P , Members NORCHI

Background: Children with hypoglycaemia due to Congenital Hyperinsulinism (CHI) usually present in the neonatal period but late presentations also occur. The phenotype of late-presenting CHI has not been well described.Aim and methods: We have reviewed the clinical course of children (n=22) presenting with CHI after 1 month of age in relation to mode of presentation, rapid KATP genetic mutation analysis, neurodevelopment, clinical progr...

ea0024oc2.4 | Oral Communications 2 (Brief Communications) | BSPED2010

Morbidity and Mortality of Infants with Salt Wasting Congenital Adrenal Hyperplasia in an Unscreened Population

Hird B E , Patel L , Tobi S , Clayton P E

Due to the non-specificity of symptoms in male neonates affected by salt-wasting (SW) CAH, it is hypothesised that a proportion die prior to diagnosis in countries lacking a newborn screening (NBS) programme, such as the UK. The aim of this study was to analyse 17-hydroxyprogesterone (17-OHP) in stored NBS blood spot samples, to detect undiagnosed cases of CAH. Samples were retrieved from storage for neonates who were born between 1994 and 2006, who subsequently died before 7 ...

ea0024oc2.5 | Oral Communications 2 (Brief Communications) | BSPED2010

Correlation of clinical and functional data to predict pubertal outcome in PAIS

Miles H , Lek N , Mooslehner K , Bunch T , Davies J

Introduction:: Advances in MDT working in Disorders of Sexual Development (DSD) are supported by activities which call for national and international collaborations. In the EuroDSD programme we are collecting clinical data and performing functional studies to assess the pubertal outcome of PAIS patients raised male.Methods: Clinical information including birth phenotype, surgery, medication and pubertal outcome, from 16 post pubertal PAIS patients with k...

ea0024oc2.6 | Oral Communications 2 (Brief Communications) | BSPED2010

Novel TSHR mutations in a large cohort of consanguineous families with congenital non-goitrous hypothyroidism

Cangul H , Aycan Z , Saglam H , Yakut T , Karkucak M , Bas V , Eren E , Yuca S , Demir K , Cetinkaya S , Kirby G A , Morgan N V , Forman J R , Tarim O , Bober E , Cesur Y , Kendall M , Hogler W , Barrett T G , Maher E R

Introduction: Non-syndromic autosomal recessively inherited non-goitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB, and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG.Design: Since consanguinity in individuals with a presumptive genetic condition is often an indicator of an autosomal recessive inherita...

ea0024oc2.7 | Oral Communications 2 (Brief Communications) | BSPED2010

Wide range of eye abnormalities in patients with hypopituitarism: is this showing a novel genetic aetiology?

Alatzoglou K S , Kelberman D , Spadoni E , Gaston-Massuet C , Woods K , Natarajan A , Maghnie M , Bitner-Glinzicz M , Dattani M T

Background and Aim: The development of the pituitary gland is closely linked to this of the eyes and forebrain, as they all originate from the same embryonic origin, the anterior neural ridge. The constellation of symptoms leading to septo-optic dysplasia (SOD) is well established; other ophthalmic signs may be under-reported. The aim of the study was to define if patients with hypopituitarism present with eye abnormalities, which are distinct from optic nerve hypoplasia (ONH)...

ea0024oc2.8 | Oral Communications 2 (Brief Communications) | BSPED2010

Radio-iodine therapy for autoimmune hyperthyroidism. A two centre, retrospective evaluation of practice and outcomes

Wnuk W , Balan K K , Cheetham T D , Acerini C L

Radio-iodine (I131) (RI) is regarded as an effective therapy for patients with autoimmune hyperthyroidism (AH). Treatment protocols and outcomes are well defined in adult endocrinology practice but not for children and adolescents where RI is now considered a safe therapy option after relapse following anti-thyroid drugs (ATD). We retrospectively evaluated the use of RI in 36 patients (6M) with AH from 2 regional units located in the North and East of England. Data ...