ESPE Abstracts

Key words: growth hormone defificiency，growth hormone, height，bone ageObjective: To evaluate the height and bone age (BA) of prepubertal growth hormone deficiency (GHD) children in the first year after long-term growth hormone treatment.Methods: According to the degree of bone age lag before treatment，36 prepubertal GHD children were divided into two groups&#xF...

Objective: To report a family with MODY2 associated with GCK gene mutation and improve clinicians' understanding of this gene mutation.Methods: The clinical manifestations, laboratory examinations and genetic test results of a MODY2 family diagnosed and treated in our hospital were analyzed retrospectively, and the related literatures were reviewed.Results: The patient is a 6-...

Objectives: To present Chung-Jansen Syndrome or CHUJANS by a de novo variant in the pleckstrin homology domain-interacting protein (PHIP) gene and compare the clinical phenotype with previous case reports; ②To provide a novel genetic detection methods with whole-exome sequencing(WES) and whole genome sequencing(WGS) and Sanger sequencing for rare genetic diseases.Patients and methods: Following collecting clinical...

Objective: To report the clinical and gene mutation characteristics of a patient with lysine urinary protein intolerance (LPI) characterized by lupus nephritis, lupus encephalitis and extreme short stature, so as to improve understanding of the clinical characteristics of LPI caused by SLC7A7 gene mutation.Methods: The clinical manifestation, laboratory examination and gene test results of a child with LPI diagnosed and ...

Background: Insulin resistance in obesity and type 2 diabetes is associated with abnormalities in mitochondrial oxidative phosphorylation in skeletal muscle. Whether mitochondrial function changes in hepatocytes with hereditary insulin resistance is not clear. Type A Insulin Resistance Syndrome (TAIRS) is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone ins...

Objective: Thyroxine binding globulin (TBG) is the most important thyroid hormone transporter in humans and is encoded by the SERPINA7 gene located on chromosome Xq22.2. By analyzing the genes of TBG-deficient patients, we aim to find a new molecular basis for the possible etiology of the disease.Design and Methods: 10 groups of subjects were enrolled in the pediatric department of the First Affiliated Hospital of Zhejia...

Introduction: Complex and ordered intracellular signal pathways play a significant role in sex determination in mammals, mediating the balance of gonadal development. A major pathway involved in the regulation of the male development is mitogen-activated protein kinase (MAPK) signaling pathway. To date, mutations of MAP3K1 gene have been found to account for approximately 15%-20% of 46, XY gonadal dysgenesis (46, XY GD)....

Objective: To investigate the prevalence of hypogonadism in patients with β-Thalassemia Major (β-TM) and explore the risk factors.Method: 42 β-TM patients (≥= 10 years old) were investigated by questionnaire, physical examination and laboratory examination to evaluate their stages of puberty development and sex hormone level.And then,effects of age, the beginning age of chelation, iron overload, geno...

Objective: To establish INS-1 cell iron overload model, and study the effect on proliferation, insulin-secretion and oxidative stress change.Methods: INS-1 cells were cultured in either normal or high glucose medium. Both groups were treated with different concentrations of (5, 10, 20, 40, 80 μmol/l respectively) of ferric ammonium citrate (FAC). Number and state of the cells were detected by trypan blue staining. Labile iron pool (LIP) were calcula...

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...