ESPE Abstracts

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...

Objective: To accumulate the information in the long-term studies of the variation of the limb segments length and proportion in the process of growth and development of children, we have measured and summarized the average level of limb segments length for the children and adolescents in the main urban area of Chongqing, calculated the ratios of limb segments length to height and extremities-trunk ratio, body proportions, and analyze their age trends.Me...

Objective: To research the the relationship between secular trends of puberty development and obesity in child and adolescent in area of southwest China.Methods: Selected respectively 4010 childs and adolescents aged between 6 and 17 years in April 2003 to May 2005, and 1387 childs and adolescents aged between 6 and 18 years in December 2013 to November 2015 in China Chongqing area.Height, weight and the breast, pubic hair development of girls, and the t...

Purpose: This study aimed to profile children diagnosed with hypercalcemia of different etiologies at a single center.Method: We retrospectively reviewed 13 children diagnosed with hypercalcemia of different etiologies.Results: We describe 13 pediatric cases, aged 4 months to 12 years old (median age: 8 months), diagnosed from 2018 to 2021. Six males and seven females were included...

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...

Background: 3-Ketothiolase deficiency (3KTD) is an inherited error of metabolism affecting isoleucine catabolism and ketone body utilization. This disorder is clinically characterized by intermittent ketoacidotic episodes with no clinical symptoms.Objective and hypotheses: To research the gene mutation of 3 acetoacetyl-CoA thiolase in non-diabetic ketoacidosis and provide a basis for diagnosis of 3KTD.To reveal the role of 3 acetoacetyl-CoA thiolase in i...

Background: It remains unclear whether specimen repeated freeze-thaw cycles can influence urinary lutenising hormone (LH) and follicular stimulating hormone (FSH) assayed by immunochemiluminometric assays (ICMA).Objective and hypotheses: To investigate the effect of specimen repeated freeze-thaw cycles on urinary LH and FSH determined by ICMA.Method: The first morning-voided urine was collected and divided two parts. One part was s...

Purpose: Childhood obesity epidemic leads an interest of pre-stage of hypertension; higher/elevated blood pressure (BP) status which BP numbers are lower than the criteria for diagnosing hypertension. In 2017, the clinical practice guidelines for pediatric BP management were published separately by Endocrine Society (ES) and American Academy of Pediatrics (AAP). The aims of this study are to evaluate the prevalence of elevated blood pressure (EBP) including hy...

Background: Permanent neonatal diabetes mellitus (PNDM) is a rare form of monogenic diabetes with onset less than 6 months of age. Together, activating mutations in KCNJ11 and ABCC8 genes, that encode the Kir6.2 andsulfonylurea receptor 1 (SUR1) subunits, respectively, account for nearly 50% of PNDM cases.Case report: We present a case reported a child diagnosed with PNDM resulting from a new mutation in the insulin (INS) gene, leading to severe hypergly...

Objective: To explore the clinical manifestations and genetic characteristics of 10 patients with ACAN variants presented as short stature, and analyze the efficacy of recombinant human growth hormone (rhGH) and/or combined with gonadotropin-releasing hormone agonist (GnRHa) in some patients with premature thelarche.Methods: We reviewed clinical data of 10 patients with ACAN variants. Genetic testing was performed on pro...