ESPE Abstracts

Background: Neurokinin B and kisspeptin appear to play main roles in puberty.Aims and objectives: The aim of the present study was to investigate the diagnostic role of kisspeptin and neurokinin B in central precocious puberty (CPP) and premature thelarche (PT).Methods: The girls who presented with breast development (between 5 and 8 years) were included in the study. All cases underwent bone age (BA) assesment. Basal serum FSH, LH...

Background: False-negative results can occur an extremely high level of substrate at the assay system. This is called the ‘high-dose hook effect’.Case presentation: 14 year-old female patient was referred with short stature, amenorea and hirsutism. Height, weight and blood pressure were 140.5 cm (SDS:−3.5), 43.4 kg (SDS:−1.6) and 120/80 mmHg. She had stage 1 Tanner breast, stage 5 pubic hair and hirsutism (mFG scale: 28) with androi...

Introduction: Increased cytokine release, impaired antioxidation and reactive oxygen species (ROS) have been shown in β-cells in pathogenesis of T1DM. Increased ROS leads to formation of covalent bonds between the sulfur atoms, leading to disulphide conversion. Displacement to disulphide form of this thiol/disulphide balance starts the oxidative damage. This study evaluates the thiol/disulphide balance in children with T1DM.Material...

Background: Childhood is a dynamic process with continuous growth and development. Growth charts are essential for the assessment of children’s health status. Standards previously established in children aged 6–18 years, according to percentile curves are used in Turkey.Objective and hypotheses: To determine the effect of different environmental factors on growth of children with the same genetic origin. We investigated the parameters of growth...

Background: Bronchiectasis is a result of recurrent pulmonary infections and chronic inflammation.Objective and hypotheses: Chronic inflammation may lead some endocrinological disorders. The consequences of the bronchiectasis on the endocrinological system and on the bone health in childhood were investigated in this study.Method: The medical records of the 64 children with bronchiectasis (32 females and 32 males) at the mean age o...

Background: Neonatal diabetes is a rare disease having usually a genetic origin. Defects in KCNJ11, ABCC8, INS, GCK, and PDX1 genes are more frequent and may lead non-transient, non-syndromic neonatal diabetes, whereas defects in PTF1A, FOXP3, EIF2AK3, GLIS3, RFX6, and NEUROD1 genes are very rare and may lead neonatal diabetes as a part of a syndrome.Objective and hypotheses: We present a patient with GLIS3 ge...

Background: Hypothyroidism is frequently associated with muscular disorders and sometimes with moderately elevated levels of muscle enzymes. On the other hand, neuromuscular manifestations are rarely the only symptoms/signs present. Kocher–Debré–Semelaigne syndrome is a myopathy of hypothyroidism in childhood characterized by muscular hypertrophy. Rhabdomyolysis due to hypothyroidism is very rare. A very high creatinine kinase level in the range seen with inflam...

Background: Boys with 21-hydroxylase deficiency (21-OHD) develop testicular adrenal rest tumors (TARTs) at a high percentage. TARTs may lead to testicular structure damage and infertility. Treatment consists of increasing the glucocorticoid dose to suppress ACTH or surgery when necessary.Objective and hypotheses: We present an adolescent with TART who was treated by testicular sparing surgery at the age of 11.Method: A 13 -year-old...

Background: An optimal vitamin D status is important for the growth and development of bones in children and adolescents. The prevalence of vitamin D deficiency is still high, even in low-latitude and industrialized countries, and vitamin D deficiency in childhood is reemerging as major public health issue.Objectives: To determine the frequencies of 25-hydroxyvitamin D (25(OH)D) deficiency and insufficiency in children and adolescents.<p class="abste...

Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder characterized by susceptibility to tumours including haemangioblastomas of retina and central nervous system, renal cell carcinoma and phaeochromocytomas. The disease is caused by mutations in the VHL tumour suppressor gene.Objective and hypotheses: We present an adolescent with VHL disease confirmed by genetic analysis which revealed the mutation p. A149P (PCC>GCC), which ...