hrp0092p2-8 | Adrenals and HPA Axis | ESPE2019

Novel TBX19 Mutation as Cause of Hypoglicemia in Two Siblings

Castagna Andrea , Bottero Arianna , Ruggiero Jessica , Viola Anna , Perrotti Chiara , Oprandi Daniela , Rossi Stefano , Badolato Raffaele , Cutrì Maria Rosa , Mingotti Chiara , Grazzani Livia , Buzi Fabio , Pilotta Alba

We describe a female neonate born from consanguineous parents who presented at birth with respiratory distress and severe hypoglycemia. At six months of age, the child was admitted to the Intensive care Unit because of two critical episodes characterized by fever and loss of consciousness. Child condition were critical and suggestive of sepsis, but blood tests showed severe hypoglycemia (19 mg/dl), hyponatremia (Na 132 mmol/l), compensated metabolic acidosis and increased infl...

hrp0089p1-p098 | Fat, Metabolism and Obesity P1 | ESPE2018

Placental Fatty Acid Profile, DNA Methylation and Adverse Metabolic Outcomes in the Offspring at School Age

Bassols Judit , Xargay-Torrent Silvia , Mas-Pares Berta , Lizarraga-Mollinedo Esther , Prats-Puig Anna , Bonmati Alexandra , Martinez-Calcerrada Jose-Maria , Zegher Francis de , Ibanez Lourdes , Lopez-Bermejo Abel

Background: The placenta plays a key role in regulating fatty acid (FA) transport from maternal to fetal circulation. An unfavourable FA profile in the placenta, reflecting an inadequate nutritional status during pregnancy, may cause changes in placental DNA methylation and negatively affect fetal growth and metabolic health of the offspring.Objectives: We aimed to study the association of an unfavourable placental FA profile with placental DNA methylati...

hrp0089p1-p223 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Sex-Differences in Reproductive Hormones During Mini-Puberty in Infants with Normal and Disordered Sex Development

Johannsen Trine Holm , Main Katharina M , Ljubicic Marie Lindhardt , Jensen Tina Kold , Andersen Helle Raun , Andersen Marianne Skovsager , Petersen Jorgen Holm , Andersson Anna-Maria , Juul Anders

Context: The early activation of the hypothalamic-pituitary-gonadal axis during infancy can be used in the evaluation of infants suspected of disorders of sex development (DSD). However, few data exists on sex-specific reference ranges for these hormones during early life.Objective: To evaluate sex-differences in reproductive hormone concentrations in serum from healthy infants in order to define sex-specific cut-off values and to apply these in infants ...

hrp0086rfc10.2 | Perinatal Endocrinology | ESPE2016

Dysregulation of Placental Mirna in Maternal Obesity is Associated with Pre-and Post-Natal Growth

Bassols Judit , Carreras-Badosa Gemma , Bonmati Alexandra , Ortega Francisco-Jose , Mercader Josep-Maria , Prats-Puig Anna , deZegher Francis , Ibanez Lourdes , Fernandez-Real Jose-Manuel , Lopez-Bermejo Abel

Background: Human placenta exhibits a specific miRNA expression pattern. Some of these miRNAs are dysregulated in pregnancy disorders like preeclampsia and intrauterine growth restriction (IUGR), and are potential biomarkers for these pathologies. No studies have been performed in maternal obesity.Objective and hypotheses: (1) Define the placental miRNA profile in pregnant women with: a) pre-pregnancy (preOB) or gestational obesity (gestOB), b) gestation...

hrp0086p1-p614 | Growth P1 | ESPE2016

Serum α-Klotho Levels are not Informative for the Evaluation of GH Secretion in Short Children

Elsedfy Heba , Meazza Cristina , Radetti Giorgio , Khalaf Randa I. , Pagani Sara , Sessa Nicodemo , Albertini Riccardo , De Stefano Anna Maria , Navarra Antonella , Lupi Fiorenzo , El Kholy Mohamed , Bozzola Mauro

Background: α-klotho is a transmembrane protein which can be cleaved and act as a circulating hormone. Since low α-klotho levels were found in organic GH deficiency (GHD) and high levels in acromegaly, an interaction between α-klotho, GH and linear growth has been suggested.Objective and hypotheses: We investigated the role of α-klotho protein as a reliable marker of GH secretion in short children and the factors influencing its secre...

hrp0082p2-d1-366 | Fat Metabolism & Obesity | ESPE2014

Uric Acid and Risk for Atherosclerotic Disease Early in Life

Bassols Judit , Martinez-Calcerrada Jose-Maria , Prats-Puig Anna , Carreras-Badosa Gemma , Diaz-Roldan Ferran , Osiniri Ines , Riera-Perez Elena , de Zegher Francis , Ibanez Lourdes , Lopez-Bermejo Abel

Background: Increased uric acid is an independent risk factor for cardiovascular disease in obese adults and adolescents. The relationship between uric acid and atherosclerotic risk early in life is unknown.Objective and hypotheses: We investigated whether uric acid relates to carotid intima–media thickness (cIMT), a marker of preclinical atherosclerosis, in a rather large sample of school-age children and investigated the interaction of obesity sta...

hrp0082p2-d3-495 | Endocrine Oncology | ESPE2014

Early Occurrence of Graves’ Disease After Severe Hypothyroidism in Boy Irradiated for Hodgkin’s Disease

Cantelmi Grazia , Grandone Anna , Luongo Caterina , Affinita Maria Carmela , Micillo Flora , Ficociello Carmine , Indolfi Paolo , Casale Fiorina , Miraglia del Giudice Emanuele , Perrone Laura

Background: Thyroid dysfunction is a well-known endocrine complication after cervical irradiation for Hodgkin’s lymphoma (HL). The most common are primary hypothyroidism (20–30%), central hypothyroidism, transient thyroiditis and thyroid cancer. Graves’ disease (GD) is less frequent (5%).Objective and hypotheses: We describe a boy, already diagnosed with thyroiditis, who developed GD during follow-up for severe hypothyroidism following rad...

hrp0084fc8.1 | Obesity - Basic | ESPE2015

DLK1 Expression in Adipose Tissue Following Fetal Growth Restriction: Relation to Visceral Fat Expansion and Catch-Up Growth in Wistar Rats

Carreras-Badosa Gemma , Remesar Xavier , Prats-Puig Anna , Diaz-Roldan Ferran , Platero-Gutierrez Estibaliz , Martinez-Calcerrada Jose-Maria , de Zegher Francis , Ibanez Lourdes , Bassols Judit , Lopez-Bermejo Abel

Background: DLK1 (PREF1) is a key inhibitor of adipogenesis and adipocyte differentiation. Adipose tissue expansion depends on adequate adipocyte differentiation. However, whether lower DLK1 expression facilitates adipose tissue expansion following fetal growth restriction is so far unknown.Objective and hypotheses: To study the expression of DLK1 in the adipose tissue of prenatally growth-restricted rats and its relat...

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...

hrp0084p3-722 | Diabetes | ESPE2015

Social Risk Assessment in Children with Diabetes Mellitus to Plan Medical and Social Care

Karpushkina Anna , Peterkova Valentina , Vartapetova Natalia , Dedyukina Elena , Philimonova Alla , Mikhailova Evgenia , Malievsky Oleg , Samoylova Yulia , Bashnina Elena , Khramova Elena , Shvabsky Oleg , Pankratova Maria , Starovoitov Mikhail

Background: According to the World Health Organization, the social determinants of health, the conditions in which people are born, grow, live and work – significantly influences on health. The CAF Foundation, the Endocrinology Scientific Center and the Institute for Family Health under the Alfa-Endo Program studied prevalence of some social determinants in families of children with type 1 diabetes mellitus.Objective and hypotheses: Investigate soci...