hrp0089p1-p052 | Diabetes & Insulin P1 | ESPE2018

Genetic Susceptibility to Type 1 Diabetes in Children: Analysis of Polymorphisms rs1990760 – IFIH1, rs20541 – IL13, rs231775 – CTLA 4

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

Background: Type 1 Diabetes is influenced by genetic and environmental factors. Cytotoxic T-lymphocyte antigen 4 (CTLA-4) gene polymorphism and The interferon induced helicase domain 1 (IFIH1) gene are known to be associated with T1DM, but have not been established in a Caucasian children population yet. The interleukin 13 (IL13) gene polymorphisms impact on the development of Type 1 DM in children has not been reported yet.Objective and hypotheses: To e...

hrp0097p2-70 | Fat, Metabolism and Obesity | ESPE2023

Association of osteoprotegerin and metabolic status in obese children.

Mikhno Hanna , Solntsava Anzhalika

Objective: determination of changes in metabolic status and osteoprotegerin (OPG) concentrations in obese children.Methods: We examined 220 children in the University Hospital (Minsk) from 2022 to 2023 yrs. Their anthropometric parameters (height, weight, body mass index (BMI)) were determined. Blood levels of OPG, insulin were determined. All children were divided into 2 groups: group 1 children with morbid obesity (MO)...

hrp0095p1-231 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

A Case Report of Vitamin D-Dependent Rickets Type 2A Without Alopecia

Karacan Küçükali Gülin , Güleray Lafcı Naz , Savaş Erdeve Şenay , Çetinkaya Semra

Introduction: Vitamin D-dependent rickets type 2A (VDDR2A) is a rare autosomal recessive disease that caused by mutations in the vitamin D receptor (VDR) gene. Hypocalcemia, high alkaline phosphatase, secondary hyperparathyroidism, high 1.25-OH vitamin D (1.25-OHD) levels despite normal 25-OH vitamin D (25-OHD) levels are diagnostic. The clinical signs are rickets, short stature, recurrent lung infections and total/subtotal alopecia. Here, we present a case of...

hrp0089fc15.6 | Growth and Syndromes | ESPE2018

Vosoritide for Children with Achondroplasia:a 30 Month Update from an Ongoing Phase 2 Clinical Trial

Irving Melita , Hoover-Fong Julie , Bacino Carlos , Charrow Joel , Cormier-Daire Valerie , Dickson Patti , Harmatz Paul , Labed Alice Huntsman , Jayaram Kala , Jeha George , Day Jonathan , Larimore Kevin , Phillips John , Savarirayan Ravi

Objectives: Achondroplasia (ACH), caused by a mutation in the fibroblast growth factor receptor 3 gene (FGFR3), leads to inhibition of endochondral bone growth. Vosoritide is a biological analogue of C-type natriuretic peptide (CNP), a potent stimulator of endochondral bone growth. A Phase 2, open-label, sequential cohort, dose-escalation study was conducted to evaluate the safety, tolerability, and efficacy of vosoritide for 24 months in children with ACH aged 5&#150...

hrp0089p3-p046 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

The Level of the Vitamin D and Bone Mineral Density in Children with Obesity

Mikhno Hanna , Solntsava Anzhalika , Vasilieva Natalia , Dashkevich Helena

Objective: To evaluate bone mineral density (BMD) and its relationship with vitamin D in children with obesity.Methods: We examined 110 children in the University Hospital (Minsk) from 2015 to 2018 yrs. Their anthropometric parameters (height, weight, body mass index (BMI)) were determined. Body composition with evaluating of mineral component were made by dual energy X-ray absorptiometry with the calculation of feet, hands, spine, ribs, hips BMD (g/cm<s...

hrp0097p1-303 | GH and IGFs | ESPE2023

Further analyses on the role of IGF-I in the diagnosis of GH deficiency (GHD) in children

Lussu Anna , Incandela Valeria , Guzzetti Chiara , Ibba Anastasia , Casula Letizia , Loche Sandro

Background: The diagnosis of GHD in children is based on auxological, biochemical, neuro-radiological, and genetic tests. Biochemical tests include evaluation of stimulated GH secretion and baseline IGF-1 determination. Although IGF-1 is the most reliable indicator of GH action, its value should always be interpreted in conjunction with other clinical and biochemical parameters. Since IGF-1 has good specificity (about 90%), but low sensitivity (about 70%), nor...

hrp0095p2-274 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Congenital hypogonadotropic hypogonadism caused by a novel mutation of GnRHR gene: a case report

Cristina Maggio Maria , Venezia Renato , Maria Di Blasio Anna , Corsello Giovanni

Hypogonadotropic hypogonadism is characterized by low levels of gonadotropins and delayed or absent sexual development. Most of the patients reach the diagnosis in late adolescence or in adulthood. A timely, appropriate diagnosis implicates a better clinical outcome and treatment timing. We describe the clinical case of a 15-year-old girl with primary amenorrhea. Stature and weight were in accordance with mid parental height; Tanner stage: PH2 B1. FSH, LH, oestradiol showed pr...

hrp0092p3-280 | Late Breaking Abstracts | ESPE2019

Short, but Daily and Controlled Physical Activity of Children with Obesity has a Positive Effect on The Irisin and Chemerin Levels

Wójcik Małgorzata , Kozioł-Kozakowska Agnieszka , Januś Dominika , Furtak Aleksandra , Starzyk Jerzy

Therapeutic interventions in obesity in addition to the weight loss, seek to improve the profile of cytokines. It is believed that physical activity, even in the absence of significant weight loss, may favorably increase the concentration of irisin and decrease the concentration of chemerin. The aim of the study was to compare the impact of a standard lifestyle intervention (SI) with an intense intervention (II) including controlled increase of daily physical ...

hrp0089lb-p10 | Late Breaking P1 | ESPE2018

The Influence of Oil-Soluble Iodinated Contrast Medium (Lipiodol) on Child’s Thyroid Function in Mice

Hongyo Tadashi , Namise Masahiro , Sawai Yukimitsu , Ishibashi Io , Kuchino Hirofumi , Seki Itsuki , Hirose Shota , Yamamura Kentaro , Ueda Yasuyuki

Introduction: Hysterosalpingography using oil-soluble iodinated contrast medium (ethiodized oil; Lipiodol) is a common examination for patients with infertility. Lipiodol remains in the body long after the examination, and there are some reports suggesting that Lipiodol induces thyroid dysfunction not only to the mother but also the fetus and the newborn. However, since there are no known mouse models of Lipiodol-induced thyroid dysfunction, we examined the influence of Lipiod...

hrp0082p3-d3-951 | Puberty and Neuroendocrinology (1) | ESPE2014

Impact of Different Doses of Bisphenol-A on the Puberty of Female Rats

Linqi Chen , Fan Yang , Meifang Jin

Objective: To observe vaginal opening day (VOD), hypothalamic kiss-1 gene and ovarian estrogen receptors (ER) gene expression level changes in neonatal rats exposure to different doses of bisphenol-A(BPA).Methods: Neonatal female SD rats were randomly divided into six groups: control group, vehicle group, 17β-estradiol group (17β-estradiol, E2,10 μg/kg per day), low-dose BPA group (25 μg/kg per day), medium-dose BPA group (50 μg/...