hrp0084p2-547 | Puberty | ESPE2015

The Impact of Growth Hormone (GH) Therapy Combined with Estrogens on Blood Pressure (BP), Cardiac Left Ventricular (LV) Dimensions and Lipid Metabolism in Pubertal Girls with Turner’s Syndrome (TS)

Nagaeva Elena , Shiryaeva Tatiana , Volevodz Natalia , Chikulaeva Olga , Pankratova Maria , Gavrilova Anna , Peterkova Valentina

Background: The risk of hypertension is estimated to occur in 7–17% of children and adolescents with TS. Even girls with TS who are normotensive have been shown an abnormal circadian BP rhythm, increasing the risk of end-organ hypertensive damage.Objective and hypotheses: We performed this study to assess the effects of GH treatment combined with estrogens for short stature on LV dimensions, systemic BP and lipid metabolism in girls with TS without ...

hrp0092p3-184 | Multisystem Endocrine Disorders | ESPE2019

Eosinophilic Ascites: A Rare Complication of Autoimmune Polyendocrinopathy

Moudiou Tatiani , Tsikopoulos Georgios , Bisbinas Vasiliki , Giannopoulos Andreas , Karabouta Zacharoula

Introduction: Autoimmune polyendocrinopathy syndrome (APS) is an inherited rare autosomal recessive disorder caused by mutations of the AIRE (autoimmune regulator) gene with organ-specific autoimmune destruction of several, mostly endocrine. APS patients may develop autoimmune enteropathies and other intestinal dysfunctions.Aim: We describe a case of eosinophilic ascites in a nine-year-old girl with APS.<p c...

hrp0082lbp-d3-1002 | (1) | ESPE2014

Pseudoexon Activation in Nicotinamide Nucleotide Transhydrogenase in Two Siblings with Familial Glucocorticoid Deficiency

Chan Li , Novoselova Tatiana , Rath Shoshana , Carpenter Karen , Atkinson H , Dickinson Jan , Pachter Nick , Price G , Choong Cathy , Metherell Lou

Background: Two siblings of non-consanguineous parents presented with FGD, demonstrated by ACTH resistance with glucocorticoid but not mineralocorticoid deficiency. The proband presented at 21 months, unresponsive with hypoglycaemia (BGL 1.5 mmol/l). Endocrine evaluation subsequent to resuscitation indicated adrenal insufficiency with elevated ACTH. Hydrocortisone therapy was commenced. A sibling, 4 years younger than the proband had a short Synacthen test (SST) performed on d...

hrp0084p2-315 | DSD | ESPE2015

Chimerism in a Teenager with Ovotesticular Disorder of Sexual Development

Buzduga Mihaela , Meyrat Blaise , Typaldou Sofia Anna , Estremadoyro Vanina , Maestre Leonor Alamo , Dwyer Andrew , Pitteloud Nelly , Phan-Hug Franziska

Background: Chimerism is the phenomenon of two or more genetically distinct cell lines (originating from different zygotes) in the same individual. In situations when the sex of the fertilised eggs is disparate, it can lead to intersex phenotypes.Objective and hypotheses: We report a case of ovotesticular disorder of sexual development with chimerism resulting from a twin pregnancy (not involving assisted reproductive technologies).<p class="abstext"...

hrp0089p2-p296 | Multisystem Endocrine Disorders P2 | ESPE2018

The Impact of Military Conflict in the East of Ukraine on the Physical Development of Children and Adolescents

Turchina Svetlana , Kostenko Tatyana

Background: The negative effect of military conflicts on the health of the child population is a proven fact. The consequences of modern military conflicts for the physical development of children are practically not studied.The aim: Of the study is to assess the nature of the physical development of children affected by the military conflict in the East of Ukraine.Materials and methods: At the 179 girls and 128 boys aged 6–18...

hrp0095p1-203 | Adrenals and HPA Axis | ESPE2022

P450 oxireductase (POR) regulates blood brain (BBB) maturation by mediating retinoic acid (RA) metabolism in a model of the human BBB

Dor Zlotnik , Tatiana Rabinski , Aviv Halfon , Inbar Plascheks , Hadar Benyamini , Yuval Nevo , Orly Yahalom-Gershoni , Benyamin Rosental , Ayal Ben-Zvi , Gad Vatine , Eli Hershkovitz

Background: The blood-brain barrier (BBB) is a multicellular neurovascular unit (NVU) that allows selective passage of necessary molecules into the central nervous system (CNS) while limiting the entry of neurotoxins and most drugs. A cross talk with pericytes and neural cells mediates the acquisition of tight junctions (TJs) in brain microvascular endothelial cells (BMECs), which limit the paracellular passage of solutes, thereby regulating CNS homeostasis. H...

hrp0092p1-328 | Diabetes and Insulin (2) | ESPE2019

Creating a Neural Network Model Based on Glycemic Variability Indices to Predict the Degree of Compensation for Type 1 Diabetes

Koshmeleva Marina , Samoilova Juliya , Kobyakova Olga , Oleynik Oxana , Brazovskii Konstantin , Nazarenko Valeriya , Filippova Tatiyana , Podchinenova Dariya

Actuality: Standard methods for determining the compensation of the disease don't always reliably reflect the level of the glycemic control of the patient, which leads to decompensation diabetes and reduce the quality and duration of life for patients. Evaluation of glycemic variability indices allows the physicians to predict the risk of developing life-threatening conditions and compensate the diabetesAim: To condu...

hrp0086fc6.5 | Syndromes: Mechanisms and Management | ESPE2016

Pathogenic Copy Number Variants are Frequently Identified in Children with Short Stature of Unknown Etiology

Canton Ana , Homma Thais , Furuya Tatiane , Roela Rosimeire , Arnhold Ivo , Jorge Alexander

Background: The etiology of short stature is heterogeneous, often encompassing complex genetic disorders of difficult diagnosis. Analysis of chromosomic copy number variants (CNVs) has been demonstrating the important role of these genomic imbalances in population diversity and human disease.Objective and hypotheses: To analyze the frequency and describe novel submicroscopic chromosomal CNVs in a group of patients with short stature of unknown cause....

hrp0086p2-p541 | Fat Metabolism and Obesity P2 | ESPE2016

Non-Medicament Treatment of Severe Obese Children, Using the One-Year Courses

Zagrebaeva Olga , Solntsava Anzhalika , Yemelyantsava Tatsiana

Background: It is hard to treat severe obese children only with diet and physical activity, psychological interventions are need.Objective and hypotheses: To examine the differences between courses of non-medicament treatment of severe obese children.Method: We examined 32 pubertal severe obese children BMI 31.2±0.8 kg/m2, 13.5±0.3 years. The newel (in Belarus) course of non-medicament treatment of obesity (die...

hrp0092fc14.4 | GH and IGF4 | ESPE2019

Once-Weekly TransCon hGH vs. Daily hGH in Pediatric Growth Hormone Deficiency: The Phase 3 heiGHt Trial

Vlachopapadopoulou Elpis , Aghajanova Elena , Chertok Elena , Korpal-Szczyrska Maria , Giorgadze Elene , Kovalenko Tatiana , Maniatis Aristedes , Thornton Paul , Hofman Paul , Song Wenjie , Shu Aimee , Karpf David , Beckert Michael , Leff Jonathan

Background: TransCon hGH is a sustained-release prodrug in development as a long-acting GH for children with growth hormone deficiency (GHD). TransCon hGH consists of a parent drug, growth hormone (hGH; somatropin), that is transiently bound to a carrier via a TransCon linker. The carrier extends hGH circulation time in the body and fully active hGH is released over one week at physiologic pH and temperature. Unlike other molecules in development, TransCon hGH...