ESPE Abstracts

Background: There are controversial results among the results of various studies evaluating diagnostic utility of kisspeptin, NKB, AMH, and INHB for demonstrating activation of hypothalamic-pituitary-gonadal axis in girls with CPP.Aim: To evaluate these 4 neuropeptides in the same individuals who presented with early pubertal signs and their validity in the diagnosis and differential diagnosis of CPP.<p class="abstex...

Background: It is known that obese children are at higher risk in terms of cardiovascular diseases when compared with normal weight children. Recent studies emphasizes on the fact that there is a relation between TSH and several cardiovascular risk factors in obese children.Objective and hypotheses: The aim of the study is to investigate the relation between cardiometabolic risk factors and thyroid function tests in obese children....

Background: It has been reported that 25–75% of patients with diagnosis of growth hormone deficiency (GHD) may show normal growth hormone (GH) responses in repeated stimulation tests after completion of treatment. Retests are typically conducted following completion of growth phase. In a small number of studies retests are conducted during early stages of GH therapy. Accuracy of early retesting to exclude GHD can be evaluated by adult heights of those wh...

Background and Aim: Priming with sex steroids before growth hormone (GH) stimulation tests is considered to increase the specificity of the GH stimulation tests, however, its use in the diagnosis of growth hormone deficiency (GHD) is still controversial. Purpose of this study is to analyze efficacy of sex steroid priming in the diagnosis of GHD.Methods: The study comprised 115 peripubertal boys who were diagnosed with is...

Introduction: Congenital disorder of glycosylation type-1a is a multi-system disease involving neurological, gastrointestinal, ophthalmologic, cardiac or endocrine systems. In addition to hypothyroidism and hypergonadotropic hypogonadism, rare occurrences of hyperinsulinemic hypoglycemia in CDG patients have been reported. In the present report, we describe a patient diagnosed with CDG type-1a accompanied by hyperinsulinemic hypoglycemia, and whose responsive to diazoxide....

Introduction: Organic lesion underlying central precocious puberty (CPP) is common in boys, and rare in girls. We aimed to compare the etiological distribution of organic causes according to gender, and define the clinical-laboratory characteristics that predict an organic cause to CPP.Subject and methods: Medical records of 260 girls and 120 boys with CPP were reviewed retrospectively to analyze the clinical, laboratory characteristics, radiological fin...

Background: Reevaluation of children diagnosed as GH deficiency (GHD) showed 25–75% of cases had normal GH responses in retests after cessation of therapy. Low reproducibility and high intra-individual variability of the tests are the important problems in diagnosis. Repeat evaluation during treatment may help detect cases with normal GH status earlier.Objective and hypotheses: We repeated stimulation tests following the first year of GH treatment t...

Background: There are two main problems that should be solved when encountering adrenal incidentaloma. The first of these is to decide whether the adrenal mass is benign or malignant and the second is to determine whether the mass is hormonally active or not.Objective and hypotheses: We aimed to focus on the approach to adrenal masses in childhood.Method: A case of phaeochromocytoma, which was diagnosed as incidentaloma is presente...

Background: GnRHa therapy is shown to be beneficial in increasing final height when started before 6 years of age in girls with idiopathic CPP(iCPP). However controversial data exist in improvement of final height whose pubertal signs appear after age of 6.Aim: To investigate effect of age of onset of GnRHa therapy on final height n girls with iCPP, and to evaluate factors affecting height gain.<st...

Spondyloocular syndrome (OMIM 605822) is an autosomal recessive disorder characterized by skeletal complaints (osteoporosis, platyspondyly, multiple bone fractures), hearing loss and ocular symptoms (cataracts, retinal detachment). XYLT2 gene (OMIM 608125) mutation encoding xylosyltransferase II enzyme which is responsible from the first step of proteoglycan assembly is responsible for the pathogenesis. Phenotypical variability is associated with varying genetic expre...