ESPE Abstracts

Background: Noonan syndrome (NS) is a common autosomal dominant/recessive disorder. No large-scale study has been conducted on NS in China, which is the most populous country in the world.Methods: Next-generation sequencing (NGS) was used to identify pathogenic variants in patients that exhibited NS-related phenotypes. We assessed the facial features and clinical manifestations of patients with pathogenic or likely patho...

Introduction: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the Fas apoptotic inhibitory molecule 2 (FAIM2) gene, the high-affinity alpha subunit (CD25) of the interleukin-2 receptor (IL-2RA) gene, the cytotoxic T cell antigen 4 (CTLA-4) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective: To estimate...

Background: Anorexia nervosa (AN) is a good biological model of chronic malnutrition. Although some reports according to the gastrointestinal disturbances in response to starvation have been published so far, the exocrine function of pancreas in patients with AN has not been studied thoroughly, yet. There is also no data on the effect of hormonal changes in AN on it. Therefore, the aim of this study is: 1) Evaluation of pancreatic exocrine function in patients with anorexia ne...

Background: The bone mass deficit in pediatric Crohn’s disease (CD) is associated with low total body lean mass and suppression of bone turnover.Objective and hypotheses: We examined at diagnosis whether the sarcopenia is associated with leg muscle hypofunction, changes in tibia muscle–bone indices as well as overt bone strength loss (vertebral fractures, VF).Method: 70% children with CD were studied within 2 weeks of dia...

Background: Isolated Growth Hormone Deficiency (IGHD) is usually associated with a delayed bone age. A genetic cause for IGHD is more frequently found in patients with familial cases and/or consanguineous parents.Objective and hypotheses: To diagnose the genetic cause of IGHD and clarify the unusual clinical presentation of advanced bone age in one patient born to consanguineous parents.Method: Sanger sequencing of GH1, <e...

Central precocious puberty (CPP) is one of the most common pediatric endocrine diseases with an ever increasing incidence. CPP is associated with the loss of final adult height, early menarche, psychological problems and an increased risk of developing diseases in later adulthood such as female reproductive system tumors. The gonadotropin-releasing hormone stimulation test (GnRHST) is the gold standard for the diagnosis of CPP. However, the test is costly and time consuming to...

Background: The gold standard for CPP diagnosis is gonadotropin releasing hormone stimulation test (GnRHST). However, this test is expensive, invasive and inconvenient for screening. Some recent studies have demonstrated that the FMV urinary luteinizing hormone (U-LH) has a strong correlation with LH peak value and serum basal LH, and a high consistency with Tanner staging results, but due to the lack of large-sample, multicenter clinical research data, a form...

Background: Although differences in pubertal timing alters frequency of indicators of attained stature at the extremes, its magnitude is unknown across ethnic groups of US youths.Methods: We performed analyses of anthropometry and Tanner staging data of 3206 cross-sectional national sample of youths ages 8–18y (53% male (n=1606), 72% Non-Hispanic White (NHW), 9% Mexican American (MA) and 19% Non-Hispanic Black (NHB). Specialized Tanner-stag...

Introduction: Congenital adrenal hyperplasia (CAH) is a lifelong condition associated with long term medical and psychosocial issues, which can adversely affect Quality of Life (QoL). There is paucity of high-grade evidence on health-related QoL in children and adolescents with CAH, with available studies being limited by small study samples. We conducted a systematic-review(SR) and meta-analysis(MA) to assess factors associated with health-related QoL among c...

Background: GH deficiency (GHD) rarely reveals at birth. Pregnancy is proceeding normally. The size and weight are generally normal and the birth occurs at terms. In some cases, neonatal markers and other pituitary deficits are present and allow early diagnosis.Objective and hypotheses: Report neonatal characteristics of GHD.Method: 107 children GHD were followed. The interrogation noted the progress of pregnancy, childbirth, weigh...