ESPE Abstracts

Background: Age and gender are important factors in adjustment and psychological well-being in patients with chronic physical illness.Objective and hypotheses: To determine whether diabetes distress varies by age and/or gender in type 1 diabetic (T1D) patients.Method: Diabetes distress was compared in 255 adolescents and 283 young adults with T1D using Problem Areas in Diabetes Scale.Results: High diabetes di...

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 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...

Backround: Menstrual disorders are common among the adolescent girls. We examined the initial investigations performed in adolescents, presenting with frequent, heavy or painful periods. Although, usually abnormal uterine bleeding (AUB) in adolescent women is attributable to immaturity of the hypothalamic-pituitary-ovarian axis, underlying conditions such as coagulation disorders and anemia should always kept in mind. However, neither the laboratory nor the ultrasound investig...

Background: Abnormalities in glucose homeostasis are fairly common complications in thalassemia major (TM) patients. This study aimed at determining the incidence of diabetes mellitus (DM) and studying the potential factors responsible for secondary DM of TM patients.Objective and hypotheses: A total of 54 (33 male) transfusion-dependent TM patients were in the ‘TM group ’; 25 age- and gender-matched healthy children were recruited as the &#145...

Background: Genital surgery in disorders of sex development (DSD) has been an area of debate over the past 20 years. One can question and even defy the routine practice to surgically align genitalia to the sex of rearing, as early as possible. However, despite multitude of data showing detrimental effects to genital sensation and sexuality, few patients born with ambiguous genitalia have remained unoperated into adolescence.Objective and hypotheses: To a...

Background: Dopa-responsive dystonia is a genetic disease that rarely reported in domestic and foreign. Its clinical characteristics is so complex and diverse that it is easy to lead to misdiagnosis and delayed treatment. However, early diagnosis and timely and appropriate treatment can completely improve symptoms. Fortunately, now we can take advantage of gene sequencing to diagnose this rare disease.Objective and hypotheses: Understand the research pro...

Background: Adrenoleukodystrophy (ALD) is a genetic disease associated with demyelination of the CNS, adrenal insufficiency, and accumulation of very long-chain fatty acids in tissue and body fluids.Objective: To research the clinical features, laboratory tests, imaging examinations and treatment on children who suffer from X-linked ALD. Also aim at revealing the correlation between the severity of disease and level of very long chain fatty acids (VLCFAs...

Objective: To explore the status and the main influencing factors of peripheral nerve conduction dysfunction in Chinese children and adolescents with type 1 diabetes mellitus (T1DM).Methods: Nerve electrophysiological indicators including amplitude, latency and conduction velocity of median nerve, ulnar nerve, superficial peroneal nerve, sural nerve, common peroneal nerve and tibial nerve were collected, and the results ...

Objective: To analyze the clinical features and causative genes in children with undiagnosed short stature and study the causative genes in our hospital. Methods Clinical manifestations, laboratory test and whole exome sequencing (WES) results of children with undiagnosed short stature who visited pediatric endocrinology department of our hospital from January 2018 to August 2019 were analyzed retrospectively. Causative genes were classified and analyzed accor...