ESPE Abstracts

Background: Micropenis are the most common signs of incomplete masculinisation, but do not receive enough attention. The etiology is very complex, including endocrine factors, genetic factors and environmental endocrine disruptors.Objective and hypotheses: To explore 45 cases of micropenis children steroidogenesis factor 1 genetic abnormalities and to research the influence of the mutation on sex gland function.Method: 45 micropeni...

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: Hepatoblastoma is the most common malignant pediatric hepatic tumor virtually confined to infants and young children. Accompanied by raised levels of alpha fetoprotein (AFP)，rarely, the beta human chorionic gonadotropin (β hCG) levels may also be elevated, which can cause male peripheral precocious puberty (PPP).Objective: To report a case of HB presented with PPP with elevated serum AFP, β h...

Introduction: Cushing's syndrome(CS) is rare in the pediatric population, and the cause vary with age. Primary pigmented nodular adrenocortical disease (PPNAD) is one of the causes of CS, though it is a rare disorder. It has been proposed that in children with CS, PPNAD should be suspected. Here we report a young boy with CS due to PPNAD associated with a somatic mutation of the PRKACA.Case Presentation: The child w...

Objectives: To report a case of concomitance of diabetes mellitus, severe acanthosis nigricans, short stature in a 6-year boy.Methods: Retrospective review of medical records of a patient with diabetes, acanthosis nigricans and short stature followed at the Departments of Endocrinology and Metabolism, Children's Hospital of Fudan University. This rare case was undergoing whole exome sequencing....