hrp0098p3-341 | Late Breaking | ESPE2024

Characteristics and influencing factors of postoperative glucose and lipid metabolism in children with craniopharyngioma

Dilong Wang , Liang Liyang

Previous studies have found that the incidence of postoperative metabolic diseases (such as obesity, cardiovascular diseases and diabetes) in patients with craniopharyngioma (CP) is high, which seriously affects the long-term quality of life of patients. At present, few data on postoperative glucose and lipid metabolism in patients with CP, and the results of different studies are heterogeneous. The purpose of this study is to monitor the glucose and lipid metabolism indexes a...

hrp0092t11 | Top 20 Poster | ESPE2019

Droplet Digital PCR Techniques to Detect R201 Mutations in the Mccune-Albright Syndrome

Lu Wenli , Xie Yiwen , Wang Junqi , Wang Wei

Background: MAS is a rare disorder, this syndrome is classically characterized by a triad of physical signs: cafe-au-lait skin pigmentation(SP), fibrous bone dysplasia(FD), peripheral precocious puberty(PPP). In children, the most frequent initial presentation of MAS is PPP. MAS is caused by postzygotic activating mutations at the R201 codon of the GNAS gene, leading to a state of somatic mosaicium. In MAS patients, the frequency of mutations is expected to be...

hrp0089p2-p336 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

A Novel Mutation in 5’; Untranslation Region of Makorin Ring Finger 3 Gene Associated with the Familial Precocious Puberty

Lu Wenli , Wang Junqi , Li Chuanyin , Hu Ronggui , Wang Wei

Central precocious puberty (CPP) is the endocrine disorder triggering by many factors those can activate the hypothalamic-pituitary-gonadal axis early which controlled GnRH secretion. However, the mechanism of CPP has not been elucidated. The study of patients with familial CPP helped understanding the complex physiological processes. Recently, loss-of-function mutations in human Makorin ring finger protein 3 (MKRN3) were found to contribute to over 30% of cases of familial CP...

hrp0094p1-156 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Molecular and phenotypic profile of Alstrom syndrome in Chinese patients:results from a Chinese cohort

Zhang Qianwen , Ding Yu , Wang Yirou , Wang Xiumin , Fu Lijun ,

Introduction: Alstrom syndrome, inherited in autosomal-recessive manner, is a complex multi-system disease including obesity, sensorineural hearing loss, retinal dystrophy, cardiomyopathy, type 2 diabetes mellitus, and multiple organ fibrosis. ALMS1 is the defective protein of Alstrom syndrome. The protein is located in the basal body of the primary cilia and involved in ciliary function. Large cohorts of Alstrom syndrome lack around the world, especially in E...

hrp0098rfc2.5 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Prediction of residual growth potential in adolescent boys by linear regression modeling based on the radiomics features extracted by knee DR images and clinical characteristics

Xu Xueqiong , Chen Yao , Wang Yirou , Wang Xiumin

Objective: To investigate the feasibility of constructing a linear regression model to predict the remaining growth potential of adolescent boys based on the radiomics features of knee DR images and clinical characteristics.Methods: Twenty-four adolescent boys with normal growth and whose knee epiphyses had not yet closed were included in the study of anterior posterio DR images of the knee and the height at the time of ...

hrp0095p2-184 | Growth and Syndromes | ESPE2022

Clinical characteristics and genetic analysis of BLM gene mutation with Bloom syndrome without facial erythema changes

Huang Hui , Yang Yu , Shuai Xia , Xiong Xiangyu , Chen Ka

Objective: To retrospectively analyze the clinical data, laboratory examination, gene test results, diagnosis and treatment of a case of small gestational age, short stature and microcephaly in the department of Endocrinology, Genetics and Metabolism of Jiangxi Children's Hospital.Methods: The detailed clinical symptoms and family history of the children and their families were evaluated. 2ml peripheral blood of the...

hrp0095p2-268 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Case Report:Clinical and genetic features of 46, XY DSD caused by a mutation in DHX37 gene

Yang Yu , Huang Hui , Wu Tieniu , Yang Li

The DHX37 gene has been identified to cause 46, XY disorders of sex development (DSD), yet there are no reports in China. Here, we report a Chinese pediatric case of 46, XY DSD identified by Whole-exome sequencing which carried a heterozygous missense mutation c.2020 C > T (P.R674 W) in DHX37 gene (NM _ 032656) inherited from the mother. Gonadal pathology showed that the left gonad was structured with a vas deferens and epididymal duct, and the right gonad had vas deferens,...

hrp0092p2-294 | Thyroid | ESPE2019

A New Case of Thyroid Hormone Resistance α Caused by a Mutation of THRA/TRa1

Chen Linqi , Sun Hui , Chen Xiuli , Chen Ting

The action of Thyroid hormone (T3) is mediated by the binding to nuclear receptors (TRa1, TRα1/2), which are ligand dependent transcription factors, encoded by the THRA and THRB genes. THRA germline mutations cause a rare genetic disease called resistance to thyroid hormone α (RTHα) first reported in 2012 . Only 20 missense and frameshift mutations have been reported to date, From this small group of patients, and analysis of animal models, it emerges that the d...

hrp0089p2-p089 | Diabetes & Insulin P2 | ESPE2018

A Curious Case of Persistent Lactic Acidosis in a Child with Diabetic Ketoacidosis

Sng Andrew , Ng Nicholas , Hui-Lin Chin , Lim Yvonne

Summary: An 11 year old girl with poorly controlled type 1 diabetes mellitus (T1DM) presented with persistent lactic acidosis and transaminitis despite resolution of diabetic ketoacidosis (DKA), subsequently confirmed histologically to have glycogen hepatopathy (GH). This case describes a rare but known complication of poorly controlled DM and offers some novel insights in the management of GH.Clinical case: The patient had a history of poor compliance t...

hrp0086p1-p230 | Diabetes P1 | ESPE2016

Growth and Glucose Metabolism after Allogenic Bone Marrow Transplantation for Thalassemia Major

Lao Wenqin , Liang Liyang , Meng Zhe , Ou Hui , Hou Lele

Background: Growth failure and abnormal plasma glucose level are common in patients with thalassemia major (TM), which are usually due to iron overload after repeated blood transfusion. Patients after successful bone marrow transplantation (BMT) will be free from further blood transfusion and thus spared from complications of iron overload. This study aimed at determining the incidence of abnormal glucose level in TM patients and studying the height difference between the TM p...