ESPE Abstracts

Objective and hypotheses: To evaluate the long-term efficacy of triptorelin 3.75 mg subcutaneously injection every 6 weeks on final height in girls with ICPP.Method: Forty females with ICPP received triptorelin 3.75 mg every 6 weeks subcutaneously injection and reached FAH were collected. These patients were divided into two groups. Group A: GnRHa alone, n=17; group B: triptorelin+rhGH, n=23. During the treatment, height, weight, annual...

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:<...

Background: Li-Fraumeni Syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in in the TP53 gene and high risk of a broad range of early-onset malignancies. The 70-77% of LFS associated tumors are: breast cancer, soft-tissue sarcoma, brain tumor, osteosarcoma and adrenocortical carcinoma. However, ovarian, pancreatic and gastrointestinal track tumors are also LFS-related. The patients with LFS are at risk for a second ...

Background: The current diagnostic criteria for Prader–Willi syndrome (PWS) although widely accepted, is challenging to be implemented in Chinese population.Objective and hypotheses: The present study collected PWS cases from 12 centres across China. By analysing the clinical manifestation during early infancy, we aimed to provide data for clinical characteristics, screening strategy and effect of GH treatment in Chinese PWS patients.<p class="a...

Background: Evidence of the association between vitamin D, insulin resistance and oral disposition index (oDI) in obese children and adolescents is limited.Objective and hypotheses: We investigated serum 25(OH)D levels in obese children and adolescents in Zhejiang, China, and determined the relationship between serum 25(OH)D and glucose metabolism.Method: A cross-sectional design was used. All together 348 obese and 445 non-obese c...

Objectives: We aimed to develop a non-invasive model for the detection of metabolic syndrome (MetS) in school children and adolescents.Methods: Participants were 7,330 children and adolescents aged 10–18 years attending schools in eight Chinese cities. Participants had anthropometry measured by research nurses and underwent fasting blood tests. MetS was defined as central obesity (waist-to-height ratio ≥0.46 f...

Introduction: The intellectual outcome in children with congenital hypothyroidism detected by neonatal screening is generally good. The aim of this study was to evaluate the intellectual outcome in patients with congenital hypothyroidism at childhood and to identify factors that may affect intellectual development.Methods: The intelligence quotient (IQ) of 126 patients with congenital hypothyroidism was evaluated at childhood using the Korean Wechsler In...

Backgrounds: Maturity-onset diabetes of the young (MODY) is a cluster of early-onset, monogenic disorders which is inherited in autosomal dominant form. It is mainly caused by genetic defects in beta-cell, which results in beta-cell dysfunction. Till now, 14 MODY types specified by mutation in respective 14 genes with their etiologies are known. Among them, glucokinase (GCK) gene encodes glucokinase enzyme which plays a crucial role in the regulation of insuli...

Background: Exposure to per- and polyfluoroalkyl substances (PFASs) may interfere with thyroid function in the general population and disturb the timing of puberty onset.Objectives: We investigated the possible relationship between PFASs and thyroid hormone (THs) exposure in girls with central precocious puberty (CPP).Methods: In a prospective study initially established for assess...

Introduction: Hypophosphatasia (HPP) is a rare autosomal recessive or dominant genetic disorder characterized by the abnormal development of bones and teeth and deficiency of tissue non-specific alkaline phosphatase activity. These abnormalities occur due to defective mineralization, the process by which bones and teeth take up minerals such as calcium and phosphorus. The specific symptoms can vary greatly from one person to another, sometimes even among membe...