hrp0098p3-117 | Fat, Metabolism and Obesity | ESPE2024

Correlation analysis between childhood obesity and adolescent development in Jiangxi Province

Yang Yu , Sun Yuan

Objective: To explore the relationship between overweight, obesity and development of children aged 3 ~ 18 years in Jiangxi Province From 2017 to 2020, a cross-sectional survey was conducted among 36,009 children aged 3-18 years in Jiangxi Province, and the possible influencing factors of obesity and precocious puberty were studied by single factor Logistic regression with SPSS 26.0 software According to the development of BMIS, the correlation between BMI and...

hrp0098p3-275 | Late Breaking | ESPE2024

Effects of gonadotropin-releasing hormone analogue (GnRHa) combined with recombinant growth hormone (rhGH) on growth of girls with central precocious puberty or early and fast puberty

Qiao Yu , Li Guimei

Background: Girls diagnosed with central precocious puberty (CPP) or early and fast puberty (EFP) tend to exhibit temporarily rapid acceleration in growth due to increased sex hormone production or exposure, leading to premature closure of the growth plate and a shorter final adult height (FAH). Rapid progression of the secondary sexual characteristics in children can also cause poor social adaptability, psychological stress, and emotional disorders. CPP/EFP c...

hrp0095rfc9.4 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Association of Birth Size, Dehydroepiandrosterone Sulfate and Cardiometabolic Risk Factors in Idiopathic Central Precocious Puberty Girls

Zhang Guijiao , Yu Huan , Yu Shengxu , Luo Xiaoping , Wu Wei

Background: Early timing of puberty is associated with worse cardiometabolic health in adulthood. Furthermore, birth weight (BW) is recognized to have implications for pubertal development and cardiometabolic risk factors. The study aimed to examine the independent association between birth size, dehydroepiandrosterone sulfate (DHEAS) and cardiometabolic risk factors in idiopathic central precocious puberty (ICPP) girls.Methods:<...

hrp0098p3-295 | Late Breaking | ESPE2024

Psychological evaluation in children and adolescents with diabetes mellitus

Ho Kim Seung , Yu Jeesuk

Background: Diabetes mellitus (DM) is a lifelong metabolic disorder requiring insulin injection or oral medication and lifestyle modification. Diabetic children may have psychological problems including depression, anxiety, and stress. The study was aim ed to screen the prevalence of psychologic abnormalities and to find the association of the psychological problems with the patients’ medical conditions.Subjects and Methods...

hrp0092rfc4.1 | Fat Metabolism and Obesity Session | ESPE2019

Expression of miRNAs in Circulating Exosomes Derived from Patients with NAFLD

zhang jianwei , hu lin , huang ke , fu junfen

Nonalcoholic fatty liver disease (NAFLD),which represents the leading cause of hepatic damage worldwide,is modulated by epigenetic factors, in particular microRNAs (miRNAs), which control at post-transcriptional level many complementary target mRNA. However, the evidence for this is inconsistent. The high stability and expression of circulating exosomal miRNAs may allow their use as candidate biomarkers. For the discovery phase,exosomes were isolated from the serum of patients...

hrp0092p3-154 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

NSD2 Mutation in a Family with a New Intellectual Disability and Short Stature Syndrome: a 7.5 Years Follow-Up

Hu Xuyun , WU Di , Li Yuchuan , Gong Chunxiu , Shen Yiping

Wolf-Hirschhorn syndrome is a genomic disorder caused by 4p16.3 deletion with facial dysmorphology, growth retardation, developmental/intellectual delay and seizures. After 165 kb critical region encompassing NSD2 was identified, most recently, three NSD2 loss of function variants was uncovered in patients with overlapping phenotype with Wolf-Hirschhorn syndrome. In our study, a NSD2 variant, c.1577dupG (p.Asn527fs*14) was identified in two patie...

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...

hrp0082p2-d2-603 | Thyroid (1) | ESPE2014

Euthyroid Sick Syndrome in Children with Diabetic Ketoacidosis

Hu Yanyan , Li Guimei , Wang Qian , Wang Zengmin , Wang Fengxue

Background: The correlation between free thyroid hormones and poor diabetic control in children with diabetic ketoacidosis (DKA) and the effects of thyroid hormone therapy on euthyroid sick syndrome (ESS) remain unclear.Objective and hypotheses: To investigate characteristics of ESS in children with DKA and the effects of thyroid hormone therapy on ESS. In children with DKA, free thyroid hormones may be associated with the severity of DKA and thyroid hor...

hrp0098p2-174 | Growth and Syndromes | ESPE2024

A Chinese case report of X-linked acrogigantism caused by Xq26.3 microduplication

Chen Jiahui , Qin Miao , Hu Xuyun , Li Yuchuan , Wu Di

Objective: To report the clinical characteristics, diagnosis, treatment and genetic analysis of a case of X-linked acrogigantism(X-LAG).Methods: The clinical information of a 4-year-old girl due to “growth acceleration for 2.5 years, breast overflow for 3 months, accompanied by intermittent convulsions twice” was retrospectively reported, and peripheral blood DNA was collected for whole exome sequencing and e...

hrp0089p3-p138 | Fat, Metabolism and Obesity P3 | ESPE2018

A Compound Heterozygote Mutation in a Chinese Patient Affected with Methylmalonic Acidemia

Yang Yu , Huang Hui , Yuan Yi

Objective: The aim of this study was to detect potential gene mutation of Methylmalonic acidemia (MAA) in a Chinese patient.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. A NGS panel include MUT,MMAA,MMAB,MMADHC and MCEE genes was identify the pathogenic mutation responsible for the MAA and verified by Sanger.Results: A...