ESPE Abstracts

Introduction: Nonadherence to insulin therapy is a significant problem worldwide, which is associated with poor health outcomes among patients with type 1 diabetes (T1D). It is important to identify the risk factors related to nonadherence to target those at higher risk of diabetic complications. In Singapore, there is a knowledge gap in understanding the risk factors for insulin nonadherence in paediatric patients with T1D.Objectives: To assess the prev...

Background: Maturity-onset diabetes of the young, type 2 (MODY2), caused by mutations in the glucokinase (GCK) gene is rare in a Chinese population.Objective and hypotheses: We report three Chinese families with MODY2 and sequenced the GCK gene to find novo mutation.Method: Three unrelated Chinese families with MODY2 and pedigrees were investigated. In Family 1, the proband was a 7-year-old girl with impaired fasting glucose (IFG) ...

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 ...

Background: The pathogenesis of central precocious puberty (CPP) is complex, and exposure to environmental endocrine disruptors leading to CPP deserves attention. Poly- and perfluoroalkyl substances (PFASs) can interfere with sexual development, but there are few reports of their effects on sexual hormones and other hormones in CPP girls.Objective: To explore the levels of PFASs in CPP girls and healthy control girls age...

Objective: To enhance the detection, management and monitoring of Chinese children afflicted with sitosterolemia by examining the physical characteristics and genetic makeup of pediatric patients.Methods: In this group, 26 children were diagnosed with sitosterolemia, 24 of whom underwent genetic analysis. Patient family medical history, physical symptoms, tests for liver function, lipid levels, standard blood tests, phyt...

Background: McCune-Albright Syndrome(MAS）includes fibrous dysplasia(FD), cafe-au-lait spots and gonadotropin-independent precocious puberty(PP). Adenohypophyseal hyperfunction syndromes is uncommon but may be potentially severe complication.Objective: To report a girl who has been confirmed McCune-Albright syndrome and has been found pituitary adenoma during follow-up.Methods:</stron...

Background: Precocious puberty is common in boys occasionally in girls with beta human chorionic gonadotropin (β-hCG)-secreting intracranial tumors, and is reported to be peripheral precocious puberty exclusively.Object: To described a girl with intracranial β-hCG-secreting germ cell tumor（GCT） who presented with central precocious puberty（CPP）.Method:<...

This study was aimed to analyze the clinical and genetic characteristics of primary hypoparathyroidism in children from five medical centers in China. We performed a multicenter retrospective analysis of 74 patients diagnosed with pediatric primary hypoparathyroidism from 2014 to 2023 recruited in five medical centers across China. Data of basic information and clinical tests were extracted from patients’ records. WES, MLPA and CMA were utilized to identify the genetic c...

Somapacitan is currently the only long-acting GH approved by FDA, PDMA and EMA to treat GH deficiency (GHD) in both children and adults. Similar efficacy, safety, and tolerability in children with GHD was demonstrated for somapacitan (0.16 mg/kg/week) compared to daily GH (0.034 mg/kg/day) in the global phase 3 REAL4 study, which was conducted in 20 countries within Asia (excluding China), Europe, and North America. Efficacy and safety of somapacitan in Chinese children with G...