ESPE Abstracts

Objective: Congenital Hyperinsulinism(CHI) is a clinically, genetically, and histologically heterogeneous disease. Turkey is a county with highly prevalent cases of severe CHI due to the high rate of consanguinity and recessively inherited KATP gene mutations. We herein evaluated the clinical characteristics, molecular genetic analysis, and follow-up of a large nationwide cohort of CHI from Turkey.Patients and method: Th...

Obesity is a common public health problem. Secondary complications are increasing with the increase in the prevalence of obesity. Studies on the effect of obesity on the urinary system in children continue and are limited. In this study, it was aimed to evaluate the relationship between childhood obesity and lower urinary tract dysfunction (LUTD) with metabolic and anthropometric measures. 400 obese children between 6 and 18 years of age who had a body mass index ≥95 per...

Autoimmune polyglandular syndrome (APS), on the other hand, is a cluster of endocrine disorders resulting from immune dysregulation, often accompanied by damage to non-endocrine organs. There are 2 types of APS: type 1 and type 2 (APS-1 and APS-2). Type 2 APS is characterized by the development of organ- and tissue-specific antibodies. In those with Addison's disease, antibodies to the 21-hydroxylase enzyme found in the adrenal cortex are present in more than 90% of patie...

A defect in one of the 5 enzymes related to the cortisol biosynthesis pathway (cholesterol side chain degradation enzyme, 3-beta-hydroxysteroid dehydrogenase, 17-hydroxylase, 21-hydroxylase and 11-hydroxylase) is responsible for the formation of KAH. Congenital Adrenal Hyperplasia (CAH) is seen in newborn babies with a frequency of 1/10,000-16,000. The most common 21 hydroxylase enzyme deficiency. 3-β-hydroxysteroid dehydrogenase (3βHSD) deficiency is a rare form of ...

Background: Obesity is characterized by insulin resistance of target tissues, such as skeletal muscle, adipose tissue and liver. Skeletal muscle tissue is responsible for approximately 75% of whole body insulin-stimulated glucose uptake. Previously, it has been shown that skeletal muscle strength is significantly associated with insulin resistance in type-2 diabetics and non-diabetics.Objective and hypotheses: To examine the relationship between insulin ...

Background: Steroid 5α-reductase catalyzes the conversion of testosterone into the more active androgen, dihydrotestosterone (DHT). In 46, XY patients with recessive mutations in steroid 5α-reductase type 2 enzyme (SRD5A2) gene, the degree of ambiguity ranges from isolated hypospadias to severe undermasculinization. SRD5A2 gene is located on chromosome 2 (p23 region) and is comprised of five exons and four introns.Objective and hypotheses: Mult...

Background: Although there is considerable literature dealing with the diagnosis, initial management and early complications of meningococcemia, data about late complications is scarce. Growth plates may be influenced permanently by ischemia leading to late orthopedic complications such as leg length discrepancy, angular deformity and distorted body proportion. We present a patient with disproportionate short stature due to late squeal of meningococcemia who was misdiagnosed a...

Background and Objective: Homozygous mutations in the “Centrosomal Protein-19 (CEP19)” gene are extremely rare causes of early-onset severe monogenic obesity. We, herein, report three siblings with CEP19 mutation.Case Presentation and Method: The index case was a 12-years-old female who presented with severe obesity (BMI:62.7kg/m2), metabolic syndrome and diabetic ketoacidosis. Her non-identical twin female s...

Background: Irisin is an adipomyokine secreted by many tissues. Because it has known relationships with the energy metabolism and exercise, its relationships with obesity and type 2 diabetes (T2D) are being focused on. Its relationship with type 1 diabetes (T1D) is unknown.Objective and hypotheses: In this study, the relationships between the serum irisin level and the metabolic control were investigated in adolescents with T1D.Met...

Objective: This study aims to reveal clinical, hormonal and ultrasound imaging features of patients treated with leuprolide acetate for diagnosis of precoccious puberty.Design: Retrospective analysis of patients with a diagnosis of central precoccious puberty and treated with leuprolide acetate between January 2008 and January 2013.Patients: 81 girls and two boys with early signs of puberty.Results: There was...