hrp0082fc11.2 | Pituitary | ESPE2014

Novel SOX2 Mutation: Identification of New Molecular Mechanisms of SOX2 Action and Interactions

Alatzoglou Kyriaki S. , Andoniadou Cynthia L. , Kelberman Daniel , Kim Hyoong-Goo , Botse-Baidoo Edward , Pedersen-White Jennifer , Layman Lawrence , Martinez-Barbera Juan Pedro , Dattani Mehul T.

Background: SOX2 is an early developmental transcription factor implicated in pituitary development; heterozygous SOX2 mutations have been reported in patients with a severe ocular phenotype and hypogonadotrophic hypogonadism (HH) with/without associated abnormalities. SOX2 physically interacts with β-catenin, a member of the Wnt-signalling pathway, via its carboxyl-terminus and it represses in vitroβ-catenin mediated activation.<p class="abstex...

hrp0082fc13.1 | Thyroid | ESPE2014

Massive Sequencing of Thyroidal Genes Reveals Unexpected Polygenic Defects in Dyshormonogenic Hypothyroidism

Iglesias A , Garcia M , Ventura P , Pozo J , Clemente M , Audi L , Corripio R , Garikano K , Polak M , del Pozo A , Visser T J , Moreno J C

Background: Dyshormonogenic hypothyroidism is classically a monogenic disease with recessive inheritance. Thyroid dysgenesis showed a multigenic origin in a mouse model of double-heterozygous deletions of Nkx2.1/Pax8 transcription factor genes, suggesting a possible polygenic nature of certain cases of human hypothyroidism.Objective and Hypotheses: To investigate genetic traits of polygenic involvement in dyshormonogenic hypothyroidism,...

hrp0082p1-d2-38 | Bone | ESPE2014

Increased Rates of Infantile Hypercalcaemia Following Guidelines for Antenatal Vitamin D3 Supplementation

Amato Lisa A , Neville Kristen A , Hameed Shihab , Quek Wei Shern , Verge Charles F , Woodhead Helen J , White Chris P , Horvath Andrea Rita , Walker Jan L

Background: Consultations for infantile hypercalcaemia have increased at Sydney Children’s Hospital since guidelines for vitamin D3 supplementation during pregnancy were introduced in 2006. Recent nationwide shortages of low-calcium formula (LCF) suggest this problem may be widespread.Aim: To determine if infantile hypercalcaemia is occurring more commonly, identify potential aetiologies and clinical significance.Me...

hrp0082p2-d1-512 | Pituitary | ESPE2014

Clinical Phenotype and Complications, Endocrinopathies and Neuroimaging Findings in a Case Series of Sod

Maris I , Howard C , Bogue C , Morrissey R , Gregory L C , O'Connell S M , Dattani M T , O'Riordan S M P

Background: Septo-optic dysplasia (SOD) is a highly heterogeneous condition with a variable phenotype, defined as two or more features of the classical triad: i) optic nerve hypoplasia, ii) midline brain defects, and iii) pituitary hormone abnormalities.Objective and hypotheses: To describe the clinical, endocrine, and neuroimaging features in eight children with SOD.Method: Eight (six males) consecutive patients, diagnosed with SO...

hrp0082p2-d1-586 | Thyroid | ESPE2014

Thyroid Function and Autoimmunity and Their Relation to Weight Status in Healthy Children and Adolescents

Garcia-Garcia Emilio , Galera-Martinez Rafael , Garcia-Escobar Iciar , Oliva-Perez Patricia , Gomez-Llorente Jose L. , Momblan Jeronimo , Vazquez-Lopez Maria A. , Perales Antonio Bonillo

Background: The interrelationships between body weight and thyroid status are complex. Serum TSH is typically increased in obese compared with lean individuals. Several mechanisms leading to hyperthyrotropinemia have been hypothesized.Objective and hypotheses: To compare thyroid function and autoimmunity in normal, overweight and obese healthy children and adolescents in our population. To analyse any metabolic risk factor related to hyperthyrotropinemia...

hrp0082p3-d3-846 | Growth (2) | ESPE2014

Design and Recruitment of a Longitudinal Cohort Study of Growth and Puberty in Russian Boys

Sergeyev Oleg , Lam Thuy , Williams Paige L , Burns Jane S , Korrick Susan A , Hauser Russ , Revich Boris , Dikov Yury , Sergeyeva Lyubov , Lee Mary M

Introduction: There are few longitudinal male cohort studies with serial assessments of growth and puberty.Objective: To describe the design and implementation of a longitudinal cohort study of Russian boys evaluated annually for growth, development and puberty.Design/methods: We assembled a multi-disciplinary team of U.S. and Russian researchers to design and conduct a longitudinal boys’ cohort study in Chapaevsk, Russia with...

hrp0084p2-256 | Diabetes | ESPE2015

Exposure to Phthalates and Phenols in Relation to Gestational Blood Glucose Homeostasis

Fisher Benjamin G. , Frederiksen Hanne , Andersson Anna-Maria , Juul Anders , Thankamony Ajay , Ong Ken K. , Dunger David B. , Hughes Ieuan A. , Acerini Carlo L.

Background: Endocrine disrupting chemicals (EDCs), such as phthalates and bisphenol A (BPA), have been associated with insulin resistance (IR) and type 2 diabetes (T2D) in non-pregnant adults. By contrast, recent pilot studies of pregnant women found negative associations between phthalates and blood glucose, and a lack of association with BPA. No studies have examined gestational IR or secretion in relation to EDC exposure.Objective: To confirm these re...

hrp0084p3-987 | Gonads | ESPE2015

From Prepuberty to Adulthood: Semen Quality and Its Predictors in a Prospective Cohort Study of Russian Young Men

Sergeyev Oleg , Minguez-Alarcon Lidia , Hauser Russ , Williams Paige L , Burns Jane S , Korrick Susan A , Dikov Yury , Smigulina Liudmila , Revich Boris , Lee Mary M

Background: We are not aware of other longitudinal cohort studies of boys with annual assessments of pubertal development and long term follow-up to adulthood to evaluate semen quality.Objective: To describe semen quality and investigate its predictors in a longitudinal cohort study of Russian boys followed from prepuberty until adulthood.Design and methods: From 2003 to 2005, 516 prepubertal 8–9-year-old boys were enrolled (8...

hrp0084lbp-1257 | Late Breaking Posters | ESPE2015

Prepubertal and Pubertal Predictors of Semen Quality in a Prospective Cohort Study of Russian Young Men: Focus on Endocrine-Disrupting Chemicals

Sergeyev Oleg , Minguez-Alarcon Lidia , Hauser Russ , Williams Paige L , Burns Jane S , Korrick Susan A , Dikov Yury , Smigulina Liudmila , Revich Boris , Lee Mary M

Background: We are not aware of other longitudinal cohort studies of boys with prepubertal assessment of exposure to endocrine-disrupting chemicals (EDCs) and annual long term follow-up of growth and puberty to evaluate semen quality.Objective: To describe semen quality and explore associations of prepubertal serum concentrations of organochlorine compounds and pubertal measures with semen parameters in an ongoing longitudinal cohort study of Russian boy...

hrp0084lbp-1267 | Late Breaking Posters | ESPE2015

Safety and Efficacy of Long-Acting GH (VRS-317) in Children with GHD: Effects of Dose Change in the Second Treatment Year

Bright George , Moore Wayne V , Nguyen Huong Jil , Kletter Gad B , Miller Bradley S , Fechner Patricia Y , Ng David , Humphriss Eric , Cleland Jeffrey L

Background: VRS-317, a novel fusion protein of rhGH exhibiting delayed clearance, serum half-life generally >100 h, and potential for once monthly dosing, was previously evaluated in a 6-month phase 1b/2a study of weekly, twice monthly or monthly dosing (5.0 mg/kg per month) in prepubertal GHD children (n=64).Objective and hypotheses: We evaluated whether increased VRS-317 dose from 12 to 18 months can offset the decrease in height velocitie...