ESPE Abstracts

Object: To raise the awareness of clinical manifestations about vasculitis-related moyamoya syndrome by summarizing the clinical characteristics of a girl with central precocious puberty, vasculitis-related moyamoya syndrome and reviewing the literature. Method: We carried on the review analysis to the patient with central precocious puberty, vasculitis-related moyamoya syndrome and reviewed the literature. Result: The bilateral breast development was the prim...

Objective: To summarize the diagnosis and treatment of a rare 46XY DSD cause: Denys-Drash syndrome.Methods: To summarize the clinical manifestations, laboratory tests, diagnosis and treatment of a rare 46XY DSD cause presenting with hemolytic uremic syndrome: Denys-Drash syndrome (WT1 mutation).Results: Female, 2 years and 4 months, were admitted to the hospital at 2018-11-7 becaus...

Objective: To highlight conversion of hypothyroidism to hyperthyroidism by case reported and literatures reviewed.Methods: Case report and literature review.Results: Two children diagnosed as Hashimoto’s thyroiditis with hypothyroidism and treated with levothyrocine primary. During the following, hyperthyroidism was noted even the stop the administration of levothyrocine. thyroid receptor antibody (TRAb) was positive during th...

Introduction: To investigate the protective effects of combined intervention with adenovirus vector mediated interleukin 10 (IL-10) and insulin-like growth factor 1 (IGF1) genes on islet β cells in nonobese diabetes (NOD) mice with type 1 diabetes mellitus (T1D) at early stage.Methods: Twenty-four female NOD mice at onset of diabetes and aged 17–20 weeks old were randomly divided into four groups. Mouse 1, 2 and 3 groups were intraperitoneally ...

Background: To evaluate potential function of visfatin in SW872 adipocytes under the conditions which produce insulin resistance by free fatty acids (FFAs). Then to explore the mechanism of visfatin on the level of signal molecules.Objective and hypotheses: To evaluate the effects of visfatin on the mRNA expressions of the insulin signal molecules including insulin receptor substrate 1 (IRS1), IRS2, and phosphatidylinositol 3 kinase (PI3K) on the states ...

Context: Data and studies based on exome sequencing for the genetic evaluation of short stature are limited, and more large-scale studies are warranted. Some factors increase the likelihood of a monogenic cause of short stature, including severe short stature (<–3 standard deviation scores) and small for gestational age (SGA) without catch-up growth. However, whether these factors can serve as predictors of molecular diagnosis remains unknown.<p c...

Objective: We report a case of a 5y3m patient who complained of breast development with "45, X Turner syndrome (TS) and HCG-secreting gonadoblastoma (Gb)" with Y chromosome mosaicism. Aim to understand the diagnosis of TS and improve the diagnosis and treatment of HCG-secreting tumors.Methods: The data of clinical diagnosis and treatment of this patient were summarized, and the literatures were reviewed.<p ...

Background: In Brazil, specially in the south, there is a high prevalence of p53 mutations – 1:300 compared to 1:5000-1:20000 incidence worldwide. (1) As a consequence, adrenocortical carcinoma as a cause of virilization in children is much more common in our practice.Clinical Case: M.P.O., a 32-month-old girl, was referred to our institution - Hospital de Clínicas de Porto Alegre - in May 2022 due to progre...

Background: In Brazil, specially in the south, there is a high prevalence of p53 mutations – 1:300 compared to 1:5000-1:20000 incidence worldwide. (1) As a consequence, adrenocortical carcinoma as a cause of virilization in children is much more common in our practice.Clinical Case: M.P.O., a 32-month-old girl, was referred to our institution - Hospital de Clínicas de Porto Alegre - in May 2022 due to progre...

Though most ophthalmologic emphasis has been stressed on the influence of retinopathy on the young diabetic community, lesser known is the complication of cataract, which has resulted in more than half of the blindness worldwide. This study attempts to stratify the epidemiology and risk factors of cataract in the type 1 diabetes mellitus (T1DM) population using data extracted from the National Health Insurance Research Database (NHIRD) in Taiwan.A two-st...