hrp0089rfc3.5 | Diabetes and Insulin 1 | ESPE2018

Recent Secular Change in Pre- and Postnatal Growth and Adiposity in Infants of Mothers with Gestational Diabetes

Olga Laurentya , Prentice Philippa , Hughes Ieuan , Acerini Carlo , Ong Ken , Dunger David

Objective: Typically, infants born to mothers with gestational diabetes mellitus (IOGDM) have greater risks for macrosomia, later obesity and metabolic diseases. However, we have noticed that birth weights of IOGDM have reduced over the last decade even with uniform application of the International Association of Diabetes and Pregnancy Study Group’s (IADPSG) consensus definition. We therefore compared infancy growth outcomes from two IOGDM cohorts born during non-overlapp...

hrp0086fc10.5 | Perinatal Endocrinology | ESPE2016

Effects of Developmental Bisphenol A Exposure on Spermatozoal microRNA Expression

Fisher Benjamin , Sandovici Ionel , Braukmann Fabian , Frederiksen Hanne , Constancia Miguel , Miska Eric , Acerini Carlo

Background: Bisphenol A (BPA), a ubiquitous endocrine-disrupting chemical, has been shown to exert transgenerational effects on adiposity, metabolism, and reproductive outcomes in rodents, indicating epigenetic inheritance. Recent studies of other environmental insults (stress and high-fat diet) have demonstrated a mechanistic role for spermatozoal microRNAs in the transgenerational transmission of acquired paternal traits.Objective and hypotheses: To as...

hrp0082p1-d3-127 | Fat Metabolism & Obesity (2) | ESPE2014

Infancy Lipidomic Analyses and Associations with Early Nutrition and Growth

Prentice Philippa , Koulman Albert , Matthews Lee , Acerini Carlo , Ong Ken , Dunger David

Background: Links between early life exposures and long-term health outcomes may in part be due to nutritional programming, and suggested benefits of breast feeding during infancy include reduced risk of obesity and metabolic disease. Mechanisms remain unexplained but potential differences in lipid exposures during infancy may be involved.Objective and hypotheses: To explore the effects of breast- or formula-feeding on lipidomic profiles we used recently...

hrp0082p1-d1-240 | Thyroid | ESPE2014

A Novel Mutation in the TITF1 Gene in a Child with Benign Hereditary Chorea

Patianna Viviana Dora , Predieri Barbara , Garavelli Livia , Fusco Carlo , Madeo Simona Filomena , Bruzzi Patrizia , Iughetti Lorenzo

Introduction: Benign hereditary chorea (BHC) is a rare, autosomal dominant disorder, described as a non-progressive chorea of early onset. BHC can present as single neurologic disorder (13%), brain and thyroid disease (30%) or ‘brain–lung–thyroid syndrome’ with congenital hypothyroidism and neonatal respiratory distress syndrome (50%).Case Report: 18 months old infant was admitted to the Endocrinology Outpatient Clinic with motor dela...

hrp0082p2-d1-572 | Sex Development | ESPE2014

Anogenital Distance, Penis Growth, and Masculine Behaviour Evidence for Independent Neurobehavioral Effects of Foetal Versus Postnatal Androgen Exposure in Boys

Pasterski Vickie , Acerini Carlo , Dunger David , Ong Ken , Hughes Ieuan , Thankamony Ajay , Hines Melissa

Background: Associations between foetal androgen deficiency and variations in anogenital distance (AGD) suggest that AGD is a reliable indicator of foetal androgen exposure. Similarly, variation in postnatal penis growth associated with variations in testosterone show penis growth to be a potential biomarker of early postnatal androgen exposure. Though variation in early androgen exposure is also hypothesized to underlie neurobehavioral masculinisation, until now, no reports h...

hrp0082p3-d2-833 | Growth (1) | ESPE2014

GH Treatment in 50 Child with Short Stature: Lebanese Experience

Nader Elie Abi , Melki Imad , Akatcherian Carlo , Gerbaka Bernard , Khallouf-Callas Eliane

Background: GH treatment in childhood is proven to increase adult final height in many indications. In Lebanon, no other study was done to evaluate the response to GH treatment.Objective and hypotheses: Identify the prevalence of each indication and evaluate the annual response to treatment based on growth velocity, bone age (BA), bone age on height age (BA/HA) and bone age on chronological age (BA/CA).Method: The population is 50 ...

hrp0086p2-p943 | Thyroid P2 | ESPE2016

Thyrotoxic Periodic Paralysis, an Under-Recognized Condition

Nip Siu Ying , Di Blasi Carolina

Background: Thyrotoxic periodic paralysis (TPP) is a rare clinical manifestation of hyperthyroidism, commonly seen in Asian males. Patients often present with sudden onset muscle weakness associated with severe hypokalemia.Case presentation: A 16-year-old Filipino male presented with acute onset bilateral lower extremities weakness. He woke up at night but was unable to move his legs. He denied any recent viral infections, ingestion of canned food or his...

hrp0082p1-d2-155 | Growth (1) | ESPE2014

Clinical Characteristics and Imprinting Analysis of Chinese Silver Russell Syndrome

Wu Di , Gong Chunxiu , Zhao Yang

Background: Silver Russell syndrome (SRS) is an imprinting defect disease.Objective: To study clinical characteristics and imprinting defects in Chinese children with SRS.Methods: Forty-nine SRS cases were studied retrospectively. Out of these 49 cases, 36 were available to be detected chromosome 11p15 imprinting defects and 21 cases were detected uniparental disomy of maternal chromosome 7 (UPD(7) mat).Resul...

hrp0084p3-792 | DSD | ESPE2015

Physical Assessment and Growth Curve of 46, XY Disorders of Sex Development Children Who Aged 0–16-Years-Old

Wu Di , Gong Chunxiu , Chen Hui

Background: The growth pattern of normal children was inappropriately used to evaluate those who with DSD.Objective: To understand growth and development of the 46, XY disorders of sex development (DSD) children, drawing height, weight and BMI curve of children with 46, XY DSD at the age of 0–16.Method: The registration database was used in this study. Non- CAH 0-16 years old 46, XY DSDs were collected. Growth curves were fitt...

hrp0084p2-425 | GH & IGF | ESPE2015

Comparison of Baseline Parameters and Response to GH Treatment in 125 Children with Short Stature with Eight Different Diagnosis

Ioimo Irene , Mussa Alessandro , Vannelli Silvia , Feyles Francesca , Einaudi Silvia , Matarazzo Patrizia

Background: Response to rhGH treatment is variable among GH deficiency (GHD), GH insensitivity and several intermediate conditions.Aims and objectives: To compare baseline parameters and response to rhGH treatment in eight diagnostic categories of patients with short stature.Methods: We selected 125 prepubertal children presenting at least 2 years of rhGH treatment (mean 5.29 years, range 2–15.6 years), hormonal and clinic par...