ESPE Abstracts

Background: Accurate and differential diagnosis of preococious puberty (PP) have some important challenges. Many parameters have used to diagnose pubertal diseases so far. However LH-RH stimulation test is considered as a gold standard procedure, ıt has some difficulties in practise.Objective: We aimed to set a newly proposed clinical and laboratory finding-based diagnostic scoring in the differential diagnosis of preoccious puberty and premature te...

Introduction: GnRH analogues common used in precocious puberty are highly effective agents. The drug dose and injection frequency should be designed for each case. However these agents are common well tolerated, some rare adverse effects may be occur. We present a case of frequent leuprolid acetate injections-related sterile abscess.Case: The case was 16-month-old boy. He had rapid growth, big penis, and excessive pubic hair. These symptoms have appeared...

Objective: There have no been studies enough about thyroid volumes of obese and adolescent children. In this study, we purposed comparing of thyroid volumes in respect of anthropometric, biochemical, metabolic parameters in following groups: Overweight, obese, morbid obese, and healthy children.Method: Two groups were compared: The first group consisted of 190 children whose BMIs are above the 85th percentile. The second group was 90 children with normal...

Autosomal dominant pseudohypoparathyroidism type-Ib is characterized by renal parathyroid hormone resistance, with resultant hypocalcemia and hyperphosphatemia. This disorder is associated with an isolated loss of methylation at GNAS exon A/B and most patients carry maternal microdeletions in the neighboring STX16 gene. The shortest deletion overlap is a 1.2-kb region spanning STX16 exon 4 and thought to harbor a cis-acting element regulating GNAS A/B methylation. However, abl...

Introduction: In cases of precocious puberty, an important factor in making treatment decisions is when adult height estimates based on bone age (BA) determination are behind midparental height. In Turkey, clinicians often use the Greulich Pyle (GP) atlas to determine BA, which can lead to significant differences between assessors. The aim of this study was to compare estimated adult height (EAH) calculations based on BA determined by the automated BoneXpert m...

Objective: Monosomy 18q and 10p duplications rare chromosomal disorders that are caused by deletion of a part of the long arm (q) of chromosome 18 and duplication of genetic material on the short arm (P) of chromosome 10 respectively. In both disorders the phenotype is highly variable and; includes short stature, developmental delay, hypotonia, and facial dysmorphic features. Also, genital abnormalities could occur in both disorders. Genital abnormalities (cry...

Objective: Vitamin deficient (VDD) rickets can manifest with skeletal (hypocalcemia, hypophosphatemia, elevated serum alkaline phosphatase and defective bone mineralization) and extra-skeletal findings. There are certain number of case reports and limited number of small scale studies reporting dilated cardiomyopathy due to VDD rickets.The aim of the present study is to evaluate the clinical, biochemical and echocardiographic features of...

Objective: The systemic form pseudohypoaldosteronism type 1 (PHA1) is an autosomal recessive disorder characterized with defective sodium transport in many organ systems including kidney, lungs, colon, sweat glands and salivary glands. Homozygous or compound heterozygous loss-of-function mutations in the genes encoding amiloride sensitive epithelial sodium channel (ENaC) account for genetic causes of systemic PHA1.Case 1: Male patient presented with vomi...

Background: Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia which needs a prompt diagnosis and relevant treatment to avoid brain damage. So far, mutations in 11 key genes are known to cause monogenic forms of HI.Objective and hypotheses: The aim of this study was to characterize the clinical and molecular features of Turkish congenital HI patients and analyze the genotype/phenotype correlations.M...

Introduction: The annual incidence of Langerhans cell histiocytosis (LCH) is 5 per million in admission with a diagnosis of isolated central diabetes insipidus (CDI) in children under the age of 15. Here, the process leading to the diagnosis of LCH at presentation with isolated CDI, imaging findings, and the sellar erosion, which has not been previously reported in the literature, will be discussed.Case presentation: A 4-year-5-month-old...