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40th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Oral Communications

Oral Communications 1

ea0030oc1.1 | Oral Communications 1 | BSPED2012

Iodine status in UK pregnant women and implications for fetal brain development

Bath Sarah , Steer Colin , Golding Jean , Emmett Pauline , Rayman Margaret

Iodine deficiency was common in the UK until the 1960s and was eradicated mainly through the adventitious increase in milk-iodine concentration. Iodine sufficiency was subsequently assumed in the UK, until a recent national study revealed mild iodine deficiency in adolescent girls, giving cause for concern. Iodine, as a component of the thyroid hormones, is crucial for brain development, and particularly during gestation. This study aimed to evaluate the relationship between i...

ea0030oc1.2 | Oral Communications 1 | BSPED2012

Disease- and treatment-related factors implicated in late neuroendocrine morbidity after paediatric optic pathway gliomas: a preliminary multivariate analysis of 96 patients treated over 30 years

Gan Hoong Wei , Spoudeas Helen Alexandra

Introduction: Low-grade gliomas (LGGs) are the commonest benign childhood brain tumour and typically affect the optic tracts, chiasm and suprasellar diencephalon, thus potentially causing serious neuroendocrine deficits from tumour mass or treatment effects. In the absence of any major studies, we sought to comprehensively evaluate patient-, disease- and treatment-related risk factors for neuroendocrine morbidity in a large single-centre survivor cohort treated by varied, prim...

ea0030oc1.3 | Oral Communications 1 | BSPED2012

Potential novel insights into the control of the feto-placental unit by kisspeptin

Katugampola Harshini , Dunkel Leo , King Peter J , Achermann John A , Duncan Andrew J , Sankilampi Ulla , Storr Helen L

Introduction: Kisspeptin is the endogenous ligand for the G-protein coupled receptor-54 (GPR54 or KiSS1R). During human pregnancy, maternal levels of placental kisspeptin dramatically increase 7000-fold. The physiological significance of this is unknown. A potential target could be the fetal adrenal cortex (FAC), which undergoes rapid growth from 10 weeks gestation, predominantly of the inner fetal zone (FZ). The FZ expresses the steroidogenic enzymes needed for conversion of ...

ea0030oc1.4 | Oral Communications 1 | BSPED2012

Skeletal effects of hypothyroidism are mediated by thyroid hormone receptor α

Cheung Moira , Boyde Alan , Evans Holly , Bassett Duncan , Williams Graham

Childhood hypothyroidism results in delayed skeletal maturation and impaired growth. Thyroid hormones act via thyroid hormone receptors α (TRα) and TRβ which are tempo-spatially regulated. In the skeleton, TRα is the predominant receptor, thus we hypothesise that the skeletal effects of hypothyroidism are mediated by TRα. To investigate this we assessed the response of wild type (wt), TRα knockout (TRα0/0) and TRβ knockout (TR...

ea0030oc1.5 | Oral Communications 1 | BSPED2012

Ethnic differences in vascular growth factor levels in early life in relation to arterial stiffness in the Manchester heart and growth study

Khan Sophia , Anderson Simon , Whatmore Andrew , Pemberton Phillip , Vyas Avni , Cruikshank Kennedy , Clayton Peter

Cardiovascular risk factors are more prevalent in south Asian (SA) adults compared to White Europeans (WE), although the reasons for this are not fully known. Vascular growth factors (VGFs) are increasingly recognised to have various roles in arterial development, function and remodelling. We hypothesised that ethnic differences in VGFs in early life contribute to the later differences in CV risk. We further hypothesised that arterial stiffness, as a measure of large artery st...

ea0030oc1.6 | Oral Communications 1 | BSPED2012

A novel syndrome characterized by hypothalamic hormonal insufficiency, neonatal seizures, congenital abnormalities of the kidneys and urinary tract and obesity due to mutation in a gene regulating hypothalamic development

Webb Emma , Kelberman Dan , Mutair Angham Al , Andoniadou Cynthia , Bacchelli Chiara , Chanudet Estelle , Kleta Robert , Lescai F , Stupka E , Beales P , Sowden Jane , Martinez JP , Dattani Mehul

Introduction: Mutations affecting hypothalamic development in humans have been identified in genes that affect isolated domains of hypothalamic function leading to restricted phenotypes, such as obesity or hypogonadotrophic hypogonadism. We describe the first human cases of diabetes insipidus and combined pituitary hormone deficiency due to a mutation in a gene regulating hypothalamic development.Results: Six affected individuals from a highly consanguin...

ea0030oc1.7 | Oral Communications 1 | BSPED2012

Novel therapies herald novel diseases: The first paediatric case series of Graves' immune reconstitution disease

Sinha Akash , Abinun Mario , Cheetham Tim

Introduction: The use of haematopoietic stem cell transplantation (HSCT) as a curative therapy for life threatening immunodeficiency signalled a paradigm shift in clinical outcomes. However, a subset of patients may experience Thyroid Immune Reconstitution Inflammatory Syndrome (IRIS) following immune reconstitution. This is recognised in the adult population but has received little attention in the paediatric literature. We present, what we believe to be, the first case serie...

ea0030oc1.8 | Oral Communications 1 | BSPED2012

Loss-of-function mutations in IGSF1 cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement

Schoenmakers Nadia , Bak Beata , Sun Yu , van Trotsenburg Paul , Oostdijk Wilma , Voshol Peter , Persani Luca , Davis Timothy , le Tissier Paul , Gharavy Neda , Appelman-Dijkstra Natasha , Pereira Alberto , Dunnen Johan den , Breuning Martijn , Hennekam Raoul , Chatterjee V Krishna , Dattani Mehul , Bernard Daniel , Wit Jan-Maarten

Introduction: Congenital central hypothyroidism occurs either as isolated TSH deficiency or in conjunction with other pituitary hormone deficits. Undetected central hypothyroidism is associated with developmental delay in children and adverse cardiometabolic sequelae in adults. Hitherto, mutations in the TRH receptor (TRHR) or TSHβ subunit (TSHB) genes are the only known causes of isolated TSH deficiency.Methods: Using whole exome and candidate gene...