ESPE Abstracts

Background: Loss of imprinting has been implicated in the pathogenesis of several human diseases. Monogenic causes of central precocious puberty (CPP) were identified in families with loss-of-function mutations in two paternally expressed imprinted genes: Makorin zinc finger 3 (MKRN3) and Delta-like 1 homolog (DLK1). The role of imprinting defects in CPP has not been described so far.Objective: To inves...

Background: Children born small for gestational age (SGA) exhibit wide variations in the activity of growth hormone (GH)/insulin–like growth factor–I (IGF-I) axis and this heterogeneity may result in supra physiological concentrations of IGF-I during GH treatment. The long-term effects of elevated IGF-I levels has been a matter of concern. We explored the variations in total IGF-I and bioactive IGF-I and the associations with growth and glucose metab...

Background: Using ultrasound to examine the glandular breast tissue is a promising method for staging pubertal breast development. However, breast ultrasound for this purpose has not been explored in a large sample of healthy girls in different developmental stages, and normative data have been unavailable.Objective: To present novel pubertal references for breast ultrasound stages, Tanner breast (B) and pubic hair (PH) ...

Backgrounds/Aims: Studies related to changes in thyroid hormone metabolism in the course of chronic liver diseases have been conducted mostly in adults. In this study, we aimed to investigate the thyroid dysfunction in childhood chronic liver diseases.Methods: Between 2005 and 2018, 960 chronic liver disease patient file that followed in our gastroenterology department are reviewed. Among all study subjects, 107 (53 fema...

Introduction: The most common causes of hyperthyroidism in the pediatric age group are autoimmune conditions (Graves' disease or Hashitoxicosis). Hyperfunctioning thyroid carcinomas are rarely reported. In this case report, we present a 17-year-old girl who was diagnosed with papillary thyroid carcinoma upon testing for hyperthyroidism.Case: A 17-year-old girl had presented to another center with a 1-month history of...

Introduction: Mutations in FGFR1, which is involved in formation and migration of neurons responsible for the production of gonadotropin-releasing hormones, may either cause isolated hypogonadotropic hypogonadism (HH) or Kallmann syndrome (KS). In addition, FGFR1mutations were reported in 2.7% of the cases with multiple pituitary hormone deficiency.Case: A 16-year-old male was referred to our clinic...

Introduction: Graves' disease is the most common cause of hyperthyroidism in children and adolescents, characterized by development of stimulant antibodies against thyrotropin (TSH) receptors. Environmental and genetic factors are thought to be responsible in triggering autoimmunity.Materials and Methods: Twenty-nine cases, with Graves' disease diagnosed in Pediatric Endocrinology clinic between January 1999 and ...

Background: The Low dose dexamethasone suppression test (LDDST) is an important investigation for suspected Cushing’s Syndrome (CS). The traditional definition of normal suppression of serum cortisol to ≤50 nmol/l during the LDDST (0.5 mg 6 hrly × 48 h) comes from a time when biochemical autoanalysers did not routinely detect very low values. Previous studies reported 5.1–8.3% of patients with Cushing’s Disease (CD) suppressed to <50 nmol/l at 48 ...

Objective: Type 1 diabetes in childhood is associated with an increased risk of psychiatric morbidities. We investigated predictors and diabetes outcomes in a pediatric population with psychiatric comorbidities.Research Design and Methods: Nationwide pediatric registerbased study. Data from the Danish national childhood diabetes register (DanDiabKids) and The National Patient Register were collected (1996–2015) for this population-based study. We us...

Background: Severe early-onset obesity (SEOO) in children is more frequently observed in subjects with genetic disorders of which those of leptin pathway can be analyzed biochemically and genetically.Objectives: The aim of the study was to investigate anthropometrics and leptin parameters, specifically searching for bio-inactive leptin, in children with SEOO.Methods: Study cohort includes children ...