ESPE Abstracts

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...

Background: Sitosterolemia (STSL) is an extremely rare genetic disease. Xanthomas as the first symptom is frequently misinterpreted as familial hypercholesterolemia (FH) in children. Inappropriate treatment may deteriorate the condition.Objectives: The goal of this study was to summarize the clinical characteristics of children with STSL who had xanthomas as their first symptom and to provide clues for early clinical dia...

Objective: This study aimed to investigate the therapeutic effects of recombinant human GH (rhGH) combined with low-dose stanozolol on the growth and final adult height (FAH) of girls with Turner syndrome (TS).Method: A total of 47 girls with TS were treated with rhGH (47.6–52.4 μg/kg per day) and low-dose stanozolol (20–35 μg/kg per day), starting at a mean age of 12.57±1.96 year. The control group consisted of 26 girls with TS,...

Background: Aromatase inhibitors (AIS) can block the conversion of androgens to estrogens, thus can be used to delay bone maturation in males, however, the effect on improvement of final adult height (FAH) is still controversial.Objective and hypotheses: A prospective study was performed to evaluate the effect of letrozole used on the FAH in males with idiopathic short stature (ISS).Method: 55 boys with ISS and had entered puberty ...

Context: Clinical experience is limited regarding the efficacy of different depot Leuprolide acetate (dLA) treatment protocols in girls with central precocious puberty (CPP).Aim: To compare the 3.75 mg/4 weeks versus 11.25 mg/12 weeks ıntramuscular injection of dLA in suppressing gonadotropins and pubertal development.Subjects and Methods: In a prospective study, 92 girls wit...

Context: Intravenous Gonadotropin-Releasing-Hormone (GnRH) stimulation test has a central role in evaluating gonadotropic activation in the diagnosis and monitorization of the treatment in patients with central precocious puberty (CPP). However, this test is invasive, laborious, costly and availability of GnRH preparation is limited in some countries.Objective: To evaluate the utility of the LH level measured 40-minutes ...

Type 1 diabetes mellitus is autoimmune T cells mediated destruction of β-cells. Mesenchymal stem cells (MSCs) are considered a promising treatment for T1DM due to the strong immunosuppressive and regenerative capacity. However, the comprehensive mechanism is still unclear. Our previous study indicated that the transforming growth factor beta-induced gene (TGFBI) is highly expressed in human umbilical cord derived mesenchymal stem cells (hUC-MSCs), which is also implicated...

Background: MAS is a rare disorder, this syndrome is classically characterized by a triad of physical signs: cafe-au-lait skin pigmentation(SP), fibrous bone dysplasia(FD), peripheral precocious puberty(PPP). In children, the most frequent initial presentation of MAS is PPP. MAS is caused by postzygotic activating mutations at the R201 codon of the GNAS gene, leading to a state of somatic mosaicium. In MAS patients, the frequency of mutations is expected to be...

Case: A 7-year-old female revealed short bowed femurs and humeri with old fractures and bowed tibias and fibulas. Her height was 97cm and weight was 11kg. Her younger sister had the same phenotype as same as her mother. The Trio WES test showed that they all inherited from their mother's COL1A2 gene mutation (c.928G>A; p.G328S) and diagnosed Osteogenesis Imperfecta, type IV. Unfortunately, the 7-year-old girl also presents coarse face, short neck, limi...

Central precocious puberty (CPP) is the endocrine disorder triggering by many factors those can activate the hypothalamic-pituitary-gonadal axis early which controlled GnRH secretion. However, the mechanism of CPP has not been elucidated. The study of patients with familial CPP helped understanding the complex physiological processes. Recently, loss-of-function mutations in human Makorin ring finger protein 3 (MKRN3) were found to contribute to over 30% of cases of familial CP...