hrp0098p2-189 | Growth and Syndromes | ESPE2024

A child with cutaneous-skeletal hypophosphatemia syndrome caused by a mosaic HRAS mutation – outcome of treatment with anti-FGF23 antibody

Wu Jing , Cao Qiaoyu , Lu Wei , Sun Chengjun , Li Qiuyue , Ye Rong , Cheng Ruoqian , Luo Feihong , Li Ming

Cutaneous-skeletal hypophosphatemia syndrome (CSHS) is a rare inherited disorder that causes bone abnormalities due to hypophosphatemic rickets, which is a significant health comorbidity. Conventional therapy involving multiple daily oral doses of phosphate and calcitriol for CSHS rickets has limited effectiveness. We present the clinical features and therapeutic outcomes of the first Chinese child with bone fractures, a seizure history, and novel recurrent gastrointestinal ma...

hrp0097p1-378 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Infant with 45, XO DSD presented with Li Fraumeni syndrome, a case report from Kuwait.

Alfadhli Maryam , Alhenaidi Razan , Elshafie Reem , Alkandari Hessa , Alhomaidah Doha

Background: X-chromosome monosomy is the most common sex abnormality in females, with a higher prevalence of cancer than the general population. Virilizing adrenocortical tumors are rarely seen in patients with Turner’s Syndrome. There have been 2 reported cases of simultaneous TP53 mutations (Li Fraumeni’s syndrome) and Turner’s syndrome. Here we report first case with this rare association from Kuwait.Clinical...

hrp0089p1-p187 | Growth & Syndromes P1 | ESPE2018

A Novel Deadly Variant in the TP53 Gene Causing Li-Fraumeni Syndrome. The Importance of Clinical Awareness and the Contribution of Molecular Diagnosis in Active Prevention Within Families with Multiple Tumor Incidents at a Young Age

Bothou Christina , Spyridis Georgios P , Papantonatos Dionysios A , Stratakis Constantine A , Papadimitriou Dimitrios T

Background: Li-Fraumeni Syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in in the TP53 gene and high risk of a broad range of early-onset malignancies. The 70-77% of LFS associated tumors are: breast cancer, soft-tissue sarcoma, brain tumor, osteosarcoma and adrenocortical carcinoma. However, ovarian, pancreatic and gastrointestinal track tumors are also LFS-related. The patients with LFS are at risk for a second ...

hrp0092p1-326 | Diabetes and Insulin (2) | ESPE2019

Copy Number Variation (CNV) Sequencing Identifies a Novel Mutation of the Glucokinase Gene in Maturity-Onset Diabetes of the Young

Li Yan , Li Pin

Backgrounds: Maturity-onset diabetes of the young (MODY) is a cluster of early-onset, monogenic disorders which is inherited in autosomal dominant form. It is mainly caused by genetic defects in beta-cell, which results in beta-cell dysfunction. Till now, 14 MODY types specified by mutation in respective 14 genes with their etiologies are known. Among them, glucokinase (GCK) gene encodes glucokinase enzyme which plays a crucial role in the regulation of insuli...

hrp0097lb16 | Late Breaking | ESPE2023

Associations Between Serum Levels of Thyroid Function and Per- and Polyfluoroalkyl Compounds Concentrations in Central Precocious Puberty in Girls

Li Yan , Li Pin

Background: Exposure to per- and polyfluoroalkyl substances (PFASs) may interfere with thyroid function in the general population and disturb the timing of puberty onset.Objectives: We investigated the possible relationship between PFASs and thyroid hormone (THs) exposure in girls with central precocious puberty (CPP).Methods: In a prospective study initially established for assess...

hrp0089p3-p413 | Growth & Syndromes P3 | ESPE2018

Conversion of Hypothyroidism to Hyperthyroidism in Children

Ju Li

Objective: To highlight conversion of hypothyroidism to hyperthyroidism by case reported and literatures reviewed.Methods: Case report and literature review.Results: Two children diagnosed as Hashimoto’s thyroiditis with hypothyroidism and treated with levothyrocine primary. During the following, hyperthyroidism was noted even the stop the administration of levothyrocine. thyroid receptor antibody (TRAb) was positive during th...

hrp0084p2-246 | Diabetes | ESPE2015

Protective Effects of Combined Intervention with Adenovirus Vector Mediated IL-10 and IGF1 Genes on Endogenous Islet β Cells in Nonobese Diabetes Mice with Onset of Type 1 Diabetes Mellitus

Li Tang

Introduction: To investigate the protective effects of combined intervention with adenovirus vector mediated interleukin 10 (IL-10) and insulin-like growth factor 1 (IGF1) genes on islet β cells in nonobese diabetes (NOD) mice with type 1 diabetes mellitus (T1D) at early stage.Methods: Twenty-four female NOD mice at onset of diabetes and aged 17–20 weeks old were randomly divided into four groups. Mouse 1, 2 and 3 groups were intraperitoneally ...

hrp0084p2-368 | Fat | ESPE2015

Effect of Visfatin on Gene Expression of Insulin Signaling Molecules in SW872 Adipocytes

Ruizhen Li

Background: To evaluate potential function of visfatin in SW872 adipocytes under the conditions which produce insulin resistance by free fatty acids (FFAs). Then to explore the mechanism of visfatin on the level of signal molecules.Objective and hypotheses: To evaluate the effects of visfatin on the mRNA expressions of the insulin signal molecules including insulin receptor substrate 1 (IRS1), IRS2, and phosphatidylinositol 3 kinase (PI3K) on the states ...

hrp0094fc3.5 | Growth Disorders | ESPE2021

Clinical profiles and genetic spectra of 814 Chinese children with short stature

Li Xin ,

Context: Data and studies based on exome sequencing for the genetic evaluation of short stature are limited, and more large-scale studies are warranted. Some factors increase the likelihood of a monogenic cause of short stature, including severe short stature (<–3 standard deviation scores) and small for gestational age (SGA) without catch-up growth. However, whether these factors can serve as predictors of molecular diagnosis remains unknown.<p c...

hrp0098p1-257 | Growth and Syndromes 3 | ESPE2024

Molecular and phenotypic characteristics of chinese neurofibromatosis type 1 children

Li Zhiying

Background/Objectives: Neurofibromatosis 1 (NF1) is a dominantly inherited genetic disorder, caused by germline pathogenic variants in NF1 gene. The protein product of NF1 is neurofibromin, which acts as a tumor suppressor protein regulating the RAS signaling pathway. We describe the mutational spectrum and clinical presentation of NF1 children, which will aid the understanding of genotype-phenotype correlations.<strong...