hrp0082p1-d1-231 | Thyroid | ESPE2014

The Association between rs4684677 T/A Polymorphism in Preproghrelin Gene And predisposition to Autoimmune Thyroid Diseases in Children*

Bosswski Artur , Moniuszko Anna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Jakubowska Ewa , Kretowski Adam

Background: Ghrelin and obestatin are two gastrointestinal peptides obtained by post-translational processing of a common precursor, preproghrelin. mRNA expression for preproghrelin was found in autoimmune thyroid diseases (AITDs) in previous studies. There are papers, where a role of preproghrelin polymorphism on various immunological diseases was determined, but nothing is known about its influence on the AITDs.Objective and hypotheses: The aim of our ...

hrp0082p3-d1-976 | Thyroid | ESPE2014

Adiposity and Pubertal Status Effects on Thyroid Function in Overweight Children and Adolescents

Giannakopoulos Aristeidis , Pervanidou Panagiota , Lazopoulou Natalia , Chrousos George , Kanaka-Gantenbein Christina

Background: In recent years, studies have consistently demonstrated higher TSH concentrations in overweight/obese children and adults compared with normal weight individuals, whereas the levels of thyroid hormones in peripheral blood remain within normal range. This euthyroid hyperthyrotropinemia on the background of a worldwide increase in childhood obesity raises the question of whether subjects with this elevated TSH should be treated.Objective and hy...

hrp0084fc13.2 | Thyroid | ESPE2015

Analysis of Chosen Polymorphisms rs2476601 A/G – PTPN22, rs1990760 C/T – IFIH1, rs179247 A/G – TSHR in Pathogenesis of Autoimmune Thyroid Diseases in Children

Goralczyk Aleksandra , Goscik Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Kretowski Adam , Bossowski Artur

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, the interferon induced helicase domain 1 (IFIH1) gene, the TSH receptor (TSH-R) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association...

hrp0084p1-86 | Growth Hormone | ESPE2015

The Growth Hormone Treatment Results in the Increase of Irisin Concentration in Plasma

Wikiera Beata , Pukajlo Katarzyna , Laczmanski Lukasz , Sloka Natalia , Basiak Aleksander , Noczynska Anna , Bolanowski Marek , Daroszewski Jacek

Background: Brown adipose tissue metabolism is of remarkable pathophysiological interest, because it could be a target for therapies for obesity and metabolic syndrome. Irisin (Ir), recently identified adipomyokine is essential in a white-to-brown fatty tissue transdifferentiation, and mediates some of the positive influences on metabolic disorders through increase of energy expenditure. The exact regulation of Ir secretion and action is unknown but positive associations of ci...

hrp0084p2-464 | Growth | ESPE2015

Infant with Phenotype Suggestive of Silver-Russell Syndrome and Study of Normal Methylation: Consider 12q14.3q15 Microdeletion Syndrome

Vargas Natalia , Galo Blanca Lidia , Campos Ariadna , Vendrell Teresa , Plaja Antonio , Yeste Diego

Background: The 12q14.3q15 microdeletion syndrome is a rare entity of which only 16 new cases have been described to date. The syndrome consists of the association of severe pre- and postnatal growth retardation, proportional short stature, psychomotor retardation and osteopoikilosis. The phenotypic appearance of these patients poses a differential diagnosis with Silver-Russell syndrome, among other entities.Clinical description: A 10-month-old boy was r...

hrp0084p2-481 | Growth | ESPE2015

Klinefelter Syndrome with Short Stature and Microcephaly: An Unusual Combination

Galo Blanca Lidia , Vargas Natalia , Clemente Maria , Vendrell Teresa , Plaja Alberto , Yeste Diego

Background: Patients with Klinefelter syndrome (SK) have a 47, XXY karyotype and tall stature as a result of overexpression of the SHOX gene. The case of a patient with peculiar phenotype, microcephaly, proportional short stature and 47, XXY karyotype with a deletion in band p11.3 of one X chromosome is presented.Clinical description: A 2-year, 4 month-old boy was referred for study of growth retardation. The product of a first gestation of 39 weeks of h...

hrp0084p2-561 | Thyroid | ESPE2015

Analysis of Chosen Polymorphisms rs5742909 C/T – CTLA4, rs7522061 C/T – FCRL3, rs7138803 A/G – FAIM2 in Pathogenesis of Autoimmune Thyroid Diseases in Children

Jakubowska Ewa , Goscik Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Kretowski Adam , Bossowski Artur

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, Fc receptor-like 3 (FCRL3) gene, Fas apoptotic inhibitory molecule 2 (FAIM2) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association of polymorphi...

hrp0094p1-66 | Diabetes B | ESPE2021

Mortality in children with monogenic diabetes

Globa Eugenia , Zelinska Natalia , Franco Elisa De , Houghton Jayne , Johnson Matthew , Ellard Sian ,

Background: In this study we investigated mortality in children with monogenic diabetes.Methods: Within the Ukrainian Pediatric Diabetes Register (UPDR) the number of children with type 1 diabetes mellitus (DM1) 0-17 y.o. in 2019 was 9860 (1 in 769), with DM2 - 36 (1 in 210,547) with neonatal DM (NDM) - 66 (1 in 115,000), with MODY - 40 cases (1 in 114,844). We used targeted next generation sequencing (tNGS) of all known...

hrp0094p2-364 | Pituitary, neuroendocrinology and puberty | ESPE2021

Congenital hypogonadotropic hypogonadism associated with X-linked ichthyosis due to X-chromosome microdeletion identified by chromosomal microarray

Kokoreva Kristina , Chugunov Igor , Kalinchenko Natalia , Latyshev Oleg , Samsonova Lyubov , Bezlepkina Olga ,

Objective: to assess diagnostic usefulness and accuracy of different tools in patients with Kallmann syndrome and ichthyosis due to X-chromosome microdeletion.Materials: сongenital hypogonadotropic hypogonadism due to KAL1 pathological variants manifest with micropenis, cryptorchidism, delay of puberty, and not associated with disorder of sex development. This condition can be associated with ichthyosis due to deletion of X chromosome region with genes KAL...

hrp0095p2-6 | Adrenals and HPA Axis | ESPE2022

High carrier frequency of a nonsense p.W230X variant in HSD3B2 gene among Ossetians

Makretskaya , Kalinchenko Natalia , Tebieva Inna , Ionova Sofya , Marakhonov Andrey , Tiulpakov Anatoly , Zinchenko Nina Rena

Background: Congenital adrenal hyperplasia (CAH) caused by 3ß-HSD deficiency is a rare form of congenital adrenal deficiency with an autosomal recessive type of inheritance. We have previously demonstrated that a single nucleotide variant NM_000198.3:c.690G>A (P.W230X) in the homozygous state is a frequent cause of CAH among the indigenous population of North Ossetia-Alania represented by Ossetians.Aims: To stud...