ESPE Abstracts

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: The AVPR2 gene mutation usually cause nephrogenic diabetes insipidus. We report a patient who carried an active gene mutation of AVPR2 presenting persistent hyponatremia, which resembled to the syndrome of inappropriate antidiuretic hormone secretion (SIADH)Method: We describe a patient whose clinical and laboratory evaluation were consistent with hyponatremia, which hardly to be corrected to normal. After the...

Objective: To investigate the early predictors of serum IGF-1, DHEAS, AMH and BMP-6 in rapidly progressive puberty girls.Methods: 750 cases of central precocious puberty(CPP), early puberty(EP) and rapidly progressive puberty(RPP) in Children's hospital of Soochow university were recruited from August 2017 to December 2018. After follow-up six months to one year, 138 girls were divided into CPP(n=32), EP...

Prader-Willi syndrome (PWS) is a complex neurobehavioral disorder characterized by infantile significant hypotonia and feeding difficulties, followed by morbid obesity secondary to hyperphagia, short stature, functionally deficient gonads, intellectual disabilities and behavioral problems. It is caused by lack of expression of imprinting genes on the paternally inherited chromosome 15q11.2-q13 region. The genetic mechanism responsible for Prader-Willi syndrome can rarely be in...

Objective: To investigate the clinical and molecular characteristics of a girl with 17α hydroxylase/17,20-lyase deficiency, of which, onset was as rhabdomyolysis and hypokalemia. And then we identified the functional consequences of two novel CYP17A1 mutations.Materials and Methods: A 11 years old girl, 46,XX karyotypes, presented with rhabdomyolysis, hypokalemia and hypertension. She had elevated levels of plasma adrenocorticotropic hormone, serum ...

Background: Now in many causes of precocious puberty, thinking of environmental endocrine disruptors (EDCs) is one of the causes. Bisphenol A (BPA), as a kind of environmental endocrine disruptors, can interfere with normal endocrine activities. But up to now, there is few reports of the influence of BPA in premature thelarche (PT) of below 2 years girls.Objective and hypotheses: To investigate the association between BPA and premature thelarche in 6 mon...

Background: It is now widely accepted that chemical pollutants in the environment can interfere with the endocrine system. The impact of endocrine disrupting chemicals on puberty disorders is concerned. bisphenol-A (BPA) has been measured in fetal plasma. There are different toxic effects with different doses of BPA.Objective and hypotheses: To observe vaginal opening day (VOD) hypothalamic kiss-1 gene and ovarian estrogen receptors (ER) gene expression ...

Background: Metformin is the only oral antihyperglycaemic agent (AHA) approved for use in youths with type 2 diabetes mellitus (T2DM). It may also be used to treat other conditions such as hyperinsulinaemia, pre-diabetes, and polycystic ovarian syndrome (PCOS). Therefore, an assessment of the prevalence of T2DM in the paediatric population based on the utilisations for metformin may overestimate the burden of the disease. However, metformin utilisation patterns in youths remai...

Background: Since metformin (MET), approved for treatment of type 2 diabetes (T2D), is the most commonly used oral anti-hyperglycaemic agent in youths MET prescriptions (Rx) could be used as a proxy for T2D burden in these populations. However, the extent of off-label use of MET in paediatrics is not well studied.Objective and hypotheses: Estimate the annual prevalence of ≥1 MET Rx among youths and calculate proportions with concomitant diagnoses o...

Background: Studies about the genetics of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) in Chinese children are less.Objective and hypotheses: Study the genotypes of Chinese probands with salt-wasting form of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CAH) and performed pedigree-based linkage analysis.Method: We have performed genetic-testing (Method...