ESPE Abstracts

Background: Cardiovascular disease is one of the most prominent causes of mortality world widely. A key related factor of atherosclerotic cardiovascular disease is the presence of dyslipidemia. Together with elevated blood pressure, obesity, and diabetes mellitus, dyslipidemia is a component of metabolic syndrome and associated with an increasing incidence of coronary heart disease.Objective and hypotheses: The aim of this study was to investigate the co...

Background: Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessive diseases.Objective and hypotheses: To explore the characterization of ATP8B1, ABCB11 and ABCB4 gene mutational spectrum in children from South China.Method: By using PCR combined with direct DNA sequencing for 32 patients.Results: Six patients were diagnosed as PFIC.Conclusion: Six novel mutations...

Background: Vitamin D dependent rickets type 1A (VDDR1A) is a rare disease caused by CYP27B1 mutations which encodes vitamin D 1α-hydoxylase.Objective and hypotheses: Vitamin D dependent rickets type 1A features of three Chinese cases with CYP27B1 mutations and report the experience of medication for severe hypocalcaemia.Method: Summarise their clinical features analyse the CYP27B1 and vitamin D receptor (VDDR) mutations.<...

Background: Thyroid carcinoma is the most common endocrine malignancy and most common secondary malignancy for childhood cancer survivors. Radiation exposure has been clearly linked to risk. Thyroid nodules in children have a high risk for malignancy, whether arising spontaneously or after radiation. Reported incidence of thyroid carcinoma after radiation is 20 times the population risk, partly due to improved long-term childhood cancer survival and more active surveillance. D...

Background: The etiology of central precocious puberty (CPP) still remains unknown. The abnormal expression of Fat mass and obesity-associated (FTO)-mediated N6-methyladenosine (m6A) has been confirmed to play the crucial roles in CPP. This study aimed to explore the mechanism of FTO-mediated m6A modification of brain-derived neurotrophic factor (BDNF) on CPP with puberty onset.Methods: The qRT-PCR and immunofluorescence...

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...

Background: Triptorelin, a gonadotropin-releasing hormone (GnRH) agonist, is available as 1-, 3-, and 6-month formulation for treatment of central precocious puberty (CPP). The triptorelin 22.5mg as 6-month formulation, which has recently been approved for use in CPP and offers greater convenience to children by reducing the injection frequency, but related research is very limited. The aim of this study was to study on the impact of 6 month formulation on pre...

Background: Triptorelin, a gonadotropin-releasing hormone (GnRH) agonist, is available as 1-, 3-, and 6-month formulation for treatment of central precocious puberty (CPP). The triptorelin 22.5mg as 6-month formulation, which has recently been approved for use in CPP and offers greater convenience to children by reducing the injection frequency, but related research is very limited. The aim of this study was to study on the impact of 6 month formulation on pre...

1q21.1 recurrent microdeletion syndrome is a rare chromosomal disorder caused by a genetic abnormality of non-allelic homologous recombination in the sequence of flanking a copy number variation event during meiosis. The characteristic features of 1q21 microdeletion syndrome are dysmorphic facial appearances with microcephaly, and mild to moderate developmental delay of speech and motor, eye abnormality, short stature, skeletal malformation, and psychiatric and behavioral diso...

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...