hrp0094p2-184 | Fat, metabolism and obesity | ESPE2021

Assessment of DRD2 dopamine receptor gene rs6277 in pediatric obesity: a case-control study

Machado Pinto Renata , Alves Nygell S , Fortes Jakeline S , Monteiro Rubia V , Minasi Lysa B , da Cruz Aparecido Divino ,

Introduction: Obesity is a multifactorial disease resulting from an interplay between genetics and the environment. Metabolic, nutritional, psychosocial, and lifestyle factors participate, promoting various degrees of overweight or obesity. Pediatric obesity increases after infancy and is higher in early adulthood, showing a heritability of up to 85%. Genetic variants associated with BMI in children can exert their effects by affecting eating behavior, as is t...

hrp0097fc7.1 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

Polygenic scores for testosterone and SHBG are associated with hormone levels in male infants

Siegfried Busch Alexander , Lindhardt Ljubicic Marie , N. Upners Emmie , B. Fischer Margit , P Hagen Casper , Juul Anders

Background: The male Hypothalamic-Pituitary-Gonadal (HPG) axis undergoes a transient activity phase during the first months of life with surging serum concentrations of reproductive hormones. Theoretically, the hormonal surge could represent a passive postnatal feedback to the withdrawal from the high sex steroid levels in pregnancy. However, we believe that minipuberty rather represents an active, tightly genetically-regulated biological process. We therefore...

hrp0097rfc7.4 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

Serum steroid metabolome dynamics during infancy: a prospective, longitudinal cohort of healthy boys

Siegfried Busch Alexander , Lindhardt Ljubicic Mariee , N. Upners Emmie , B. Fischer Margit , P. Hagen Casper , Frederiksen Hanne , Juul Anders

Background: The circulating steroid metabolome in boys undergoes significant changes during infancy reflecting functional and structural rearrangements of the adrenal glands as well as the transient activity of the hypothalamic–pituitary–gonadal axis, also called minipuberty. Studies investigating the serum steroid metabolome dynamics during infancy in a longitudinal manner are however sparse.Objective: We ai...

hrp0097p1-270 | Fat, Metabolism and Obesity | ESPE2023

MC4R deficiency in a portuguese pediatric cohort study

C Mendes Ariana , Pereira Janet , Mirante Alice , M Saraiva Jorge , R. Soares Ana , B. Sousa Sérgio , Rosmaninho-Salgado Joana

Background: Melanocortin 4 receptor (MC4R) deficiency is the commonest monogenic form of non-syndromic obesity. MC4R is a seven transmembrane G-protein coupled receptor implicated in central regulation of body weight. The loss-of-function mutations in MC4R gene will contribute to early-onset obesity associated with hyperinsulinemia, hyperphagia and “binge eating”. We aim to determine the prevalence of MC4R variants in a Pediatrics...

hrp0098p2-291 | Thyroid | ESPE2024

A case of papillary thyroid cancer in a boy with an aggravated heredity for medullary thyroid cancer

B Bricheva Ella , V Nagaeva Elena , M Abdulkhabirova Fatima , M Lapshina Anastasiya , A Mikheenkov Alexander , N Brovin Dmitry , V Bondarenko Ekaterina

Background: Thyroid cancer (TC) caused by germline mutations most often manifests in childhood. Hereditary forms of TC are divided into two groups: non-medullary and medullary thyroid cancer (MTC). A mutation in RET gene can be detected in about 95% of patients with MTC. If a mutation in RET gene is found, prophylactic thyroidectomy is recommended.Aim: To demonstrate the importance of molecular genetic ...

hrp0094yi1.1 | Young Investigators | ESPE2021

Identification of novel genetic causes of familial central precocious puberty

Avbelj Stefanija Magdalena , Kovač Jernej , Gat-Yablonski Galia , Novak Eva , Hovnik Tinka , Toromanović Alma , Stipančič Gordana , Milenković Tatjana , Vuković Rade , Todorović Slađana , Jančevska Aleksandra , Zdravković Vera , Jesič Maja , Stanković Sandra , Phillip Moshe , Battelino Tadej , de Vries Liat

Introduction: The major genetic cause of CPP is the paternally inherited Makorin RING-finger protein 3 (MKRN3) deficiency. Rare patients carry variants in kisspeptin and its receptor and DLK1.Objectives: To identify genetic causes of CPP.Population and methods: MKRN3 Sanger sequencing was performed in 56 unrelated subjects (12 familial non-maternal, 44 sporadic (6 boys)), whole-ge...

hrp0092rfc8.2 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Investigation of Imprinting Alterations in MKRN3 and DLK1 in a Cohort of Girls with Central Precocious Puberty Through Specific DNA Methylation Analysis

Canton Ana , Steunou Virginie , Brito Vinicius , Laure Sobrier Marie , Montenegro Luciana , Bessa Danielle , Mendonca Berenice B , Netchine Irène , Latronico Ana Claudia

Background: Loss of imprinting has been implicated in the pathogenesis of several human diseases. Monogenic causes of central precocious puberty (CPP) were identified in families with loss-of-function mutations in two paternally expressed imprinted genes: Makorin zinc finger 3 (MKRN3) and Delta-like 1 homolog (DLK1). The role of imprinting defects in CPP has not been described so far.Objective: To inves...

hrp0092rfc14.5 | Adrenals and HP Axis | ESPE2019

Bioactive IGF-I Concentration Compared to Total IGF-I Concentration Before and After 1 Year of High-Dose Growth Hormone in Short Children Born Small for Gestational Age - North European SGA Study (NESGAS)

Beck Jensen Rikke , Gersel Wegmann Mathilde , Thankamony Ajay , Roche Edna , Hoey Hilary , Kirk Jeremy , Ivarsson Sten-A. , Söder Olle , Frystyk Jan , Dunger David B. , Juul Anders

Background: Children born small for gestational age (SGA) exhibit wide variations in the activity of growth hormone (GH)/insulin–like growth factor–I (IGF-I) axis and this heterogeneity may result in supra physiological concentrations of IGF-I during GH treatment. The long-term effects of elevated IGF-I levels has been a matter of concern. We explored the variations in total IGF-I and bioactive IGF-I and the associations with growth and glucose metab...

hrp0092p1-285 | Thyroid (1) | ESPE2019

Evaluation of Thyroid Function Tests in Children with Chronic Liver Diseases

Ön S.Sebnem , Acar Sezer , Demir Korcan , Abaci Ayhan , Öztürk Yesim , Çelik Sinem Kahveci , Böber Ece

Backgrounds/Aims: Studies related to changes in thyroid hormone metabolism in the course of chronic liver diseases have been conducted mostly in adults. In this study, we aimed to investigate the thyroid dysfunction in childhood chronic liver diseases.Methods: Between 2005 and 2018, 960 chronic liver disease patient file that followed in our gastroenterology department are reviewed. Among all study subjects, 107 (53 fema...

hrp0092p2-284 | Thyroid | ESPE2019

Papillary Thyroid Cancer Associated with Hyperthyroidism

Acar Sezer , Paketçi Ahu , Demir Korcan , Ates Oguz , Özer Erdener , Özdogan Özhan , Böber Ece , Abaci Ayhan

Introduction: The most common causes of hyperthyroidism in the pediatric age group are autoimmune conditions (Graves' disease or Hashitoxicosis). Hyperfunctioning thyroid carcinomas are rarely reported. In this case report, we present a 17-year-old girl who was diagnosed with papillary thyroid carcinoma upon testing for hyperthyroidism.Case: A 17-year-old girl had presented to another center with a 1-month history of...