hrp0095p1-598 | Thyroid | ESPE2022

Retrospective analysis and literature review of five cases of thyroid hormone resistance syndrome caused by THRB gene mutation

Zhang Lidan , Zhang Caiping , Chen Xiaoyan , Ye Lei , Lu Wenli , Dong Zhiya , Wang Wei , Ma Xiaoyu , Xiao Yuan

Objective: To summarize the clinical characteristics, genetics and follow-up data of five children with thyroid hormone resistance syndrome (RTH) and review the related literatures.Methods: The clinical data of the five children diagnosed with RTH in our hospital from 2018 to 2020 were retrospectively analyzed. Next-generation sequencing of the candidate genes related to thyroid diseases was performed using the blood col...

hrp0095p2-233 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Central precocious puberty in a girl with vasculitis-related moyamoya syndrome

Xie Dandan , Chen Qiuli , Ma Huamei , Jiang Bo , Li Yanhong , Zhang Jun , Guo Song , Zheng Rujiang , Chen Zhixin

Object: To raise the awareness of clinical manifestations about vasculitis-related moyamoya syndrome by summarizing the clinical characteristics of a girl with central precocious puberty, vasculitis-related moyamoya syndrome and reviewing the literature. Method: We carried on the review analysis to the patient with central precocious puberty, vasculitis-related moyamoya syndrome and reviewed the literature. Result: The bilateral breast development was the prim...

hrp0092p1-150 | Thyroid | ESPE2019

Acquired Von Willebrand's Syndrome Caused by Primary Hypothyroidism in a 5-Year-Old Girl

Flot Claire , Edouard Thomas , Tauber Maïthé , Oliver Isabelle , Claeyssens Segolene , Savagner Frederique , Caron Philippe

Background: Acquired Von Willebrand's syndrome (aVWS) associated with hypothyroidism is rare in children and more often diagnosed during the peripubertal period in the context of Hashimoto's thyroiditis.Case presentation: A 5-year-old girl was referred to the paediatric haematology unit for rectal bleeding, anaemia, and prolonged activated partial thromboplastin time. Her developmental and learning skills were no...

hrp0092p2-81 | Diabetes and Insulin | ESPE2019

A de novo Pathogenic Heterozygous Mutation of the Insulin Receptor gene in a Patient with type A Insulin Resistance Syndrome

Sun Manqing , Wang Wei , Lu Wenli , Zhang Lidan , Dong Zhiya , Xiao Yuan , Ma Xiaoyu , Ni Jihong , Wang Defen

Background: Defects of the insulin receptor gene (INSR) can cause genetic syndromes associated with a wide diverse range of congenital insulin resistance from milder insulin-resistant diabetes mellitus (Type A insulin resistance syndrome, TAIRS) to leprechaunism (Donahue syndrome). Clinical features in TAIRS vary due to the severity of damage in INSR, precise diagnosis is challenging.Materials and Methods</stron...

hrp0092p3-241 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

46XY, DSD with Hemolytic Uremic Syndrome as the Primary Manifestation——Denys–Drash Syndrome Caused by WT1 Gene Mutation

zhang jun , guo song , chen qiuli , ma huamei , li yanhong , chen hongshan , du minlian , cheng cheng , ye minyi

Objective: To summarize the diagnosis and treatment of a rare 46XY DSD cause: Denys-Drash syndrome.Methods: To summarize the clinical manifestations, laboratory tests, diagnosis and treatment of a rare 46XY DSD cause presenting with hemolytic uremic syndrome: Denys-Drash syndrome (WT1 mutation).Results: Female, 2 years and 4 months, were admitted to the hospital at 2018-11-7 becaus...

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 ...

hrp0089p1-p059 | Diabetes &amp; Insulin P1 | ESPE2018

Impact of Diabetes During Pregnancy in Women Affected with GCK-MODY on Neonatal Health Outcome

Brandt Agnieszka , Wołoszyn-Durkiewicz Anna , Buraczewska Marta , Kopacz-Petranyuk Katarzyna , Myśliwiec Małgorzata

Introduction: Gestational diabetes is one of the most common medical disorders and may cause numerous maternal and fetal complications. It constitutes one of the most frequent pregnancy health problems and may cause wide range of complications such as: preterm births, congenital defects, sacral agenesis, hypertrophic cardiomyopathy, metabolic changes and macrosomia in neonates. Therefore, early detection and implementation of guideline-based screening tests, are crucial. One o...

hrp0089p2-p391 | Thyroid P2 | ESPE2018

Application of Elastography in Assesment of Different Benign Thyroid Lesions in Children and Adolescents

Borysewicz-Sańczyk Hanna , Dzięcioł Janusz , Sawicka Beata , Florczykowska Patrycja , Przychodzen Małgorzata , Bossowski Artur

Introduction: Elastography is a noninvasive imaging technique based on estimation of the tissue flexibility. There are two methods of elastography: Static Elastography and Shear Wave Elastography. Scale of deformation under pressure is presented as a colourful map – elastogram, where red colour signify soft tissues, green colour signify middle tough tissues and blue colour signify tough tissues. Analysis of elastograms enable us to present results as ROI1/ROI2 index. In a...

hrp0082p2-d3-610 | Turner Syndrome | ESPE2014

Therapeutic Effects of GH Combined with Low-Dose Stanozolol on Growth Velocity and Final Height of Girls with Turner Syndrome

Chen Hong-Shan , Du Min-Lian , Li Yan-Hong , Xiong Hui , Ma Hua-Mei , Chen Qiu-Li

Objective: This study aimed to investigate the therapeutic effects of recombinant human GH (rhGH) combined with low-dose stanozolol on the growth and final adult height (FAH) of girls with Turner syndrome (TS).Method: A total of 47 girls with TS were treated with rhGH (47.6–52.4 μg/kg per day) and low-dose stanozolol (20–35 μg/kg per day), starting at a mean age of 12.57±1.96 year. The control group consisted of 26 girls with TS,...

hrp0084p2-455 | Growth | ESPE2015

Effect of Aromatase Inhibitor Treatment During Adolescence on the Final Adult Height in Males with Idiopathic Short Stature

Yan-hong Li , Min-lian Du , Hua-mei Ma , Hong-shan Chen , Qiu-li Chen , Jun Zhang

Background: Aromatase inhibitors (AIS) can block the conversion of androgens to estrogens, thus can be used to delay bone maturation in males, however, the effect on improvement of final adult height (FAH) is still controversial.Objective and hypotheses: A prospective study was performed to evaluate the effect of letrozole used on the FAH in males with idiopathic short stature (ISS).Method: 55 boys with ISS and had entered puberty ...