ESPE Abstracts

Introduction: Heterozygous loss-of-function mutations in the glucokinase (GCK) gene cause MODY 2. Conversely, homozygous loss-of-function mutations in the same gene give rise to permanent neonatal diabetes mellitus (DM). Previously, two patients diagnosed with DM in adolescence and had homozygous GCK mutations were reported. Variants in these patients have been shown to exhibit inactivated kinetics that are indistinguishable from neonatal ons...

Introduction: Early-onset severe obesity (before five years of age) without intellectual deficit, dysmorphisms, or malformations raises the hypothesis of monogenic obesity. The leptin receptor (Lepr) pathway is essential for food intake regulation, energy expenditure, and body weight. Mutations in leptin and the Lepr have been shown to cause early-onset severe obesity in mice and humans.Objective: To report the clinical ...

Introduction: Proopiomelanocortin (POMC) deficiency is a rare disease characterized by central adrenal insufficiency, early-onset obesity, red hair, and impaired skin pigmentation. This disease is caused by mutations of POMC that is localized in 2p23.3. Here, we aimed to present a case with central adrenal insufficiency, red hair, and rapid weight gain and who was detected frameshift mutation in the POMC.Case</s...

Background: FSH stimulates ovarian follicle maturation and estradiol synthesis which is responsible for breast development. Age at pubertal onset varies substantially among healthy girls. Although more than half of the variation is heritable, only a small part has been attributed to specific genetic polymorphisms identified so far.Objective and Hypotheses: We assessed the effect on pubertal onset of three genetic polymorphisms affecting FSH action.<p...

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: 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 ...

Introduction: The world health organization has adopted diabetes as the most important health problem because of its increasing frequency and complications. Determination of changes in patient profile over the years due to type 1 diabetes (T1DM), the most common type of diabetes in childhood, is an important point in the follow up observation and treatment of diabetes.Aim: To determine the epidemiological and clinical characteristics of children and adol...

Introduction: Various types of mutations in GHRHR cause isolated growth hormone deficiency type 1B. Here, we report the clinical features associated with deletion of whole GHRHR gene for the first time.Case: A four-year–and-nine-month-old otherwise healthy girl was admitted due to short stature. She was born at term with a birthweight of 3750 gr. Her height velocity slowed down after 2 years of age. The mother (157.8 cm, −0.8...

Background: Recently, the first patients with resistance to thyroid hormone (RTHα) due to inactivating mutations in TRα1 have been identified. These patients are characterized by growth retardation, delayed bone development, mild cognitive defects, delayed motor development and abnormal thyroid function tests.Objective and hypotheses: We hypothesized that the phenotype of a TRα mutation depends on its location, e.g. if it is present only i...