ESPE Abstracts

Background: In several studies it has been shown that BMI influences the timing of puberty, mostly in girls, but has not been a consistent finding in boys.Objective and hypotheses: To investigate the association between BMI and timing of pubertal onset in a population based sample of Turkish boys.Method: Data on growth and pubertal development were collected by biannual visits to six primary and secondary level schools in Istanbul ...

Background: Wolfram syndrome is an autosomal recessive disorder accompanied by diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Mutations in the WFS1 gene are determined in 90% of cases. We present the clinical features of three cases of Wolfram syndrome.Objective and hypotheses: Case 1: A 14-year-old girl presented with loss of vision. At the age of 3 years she had been diagnosed with type 1 diabetes mellitus with a bl...

Background: Precocious puberty has a complex and polygenic etiology. To describe genetic factors affecting onset and regulation of puberty and pathophysiology of precocious puberty, further studies are needed. Although, it is reported that ACTH receptor MC4R has impact on premature adrenarche, MC2R is expressed in the adrenal cortex and has a major role on the control of hypothalamo-pituitary-adrenal cortex. Melanocortin signaling system is reported to have l...

Background: Borderline precocious and normal-onset puberty can show slow or fast course. The fast development of pubertal signs can be resulted in decrease in final height (FH) via accelerated growth and bone maturation.Objective and hypotheses: To study the effectiveness of GnRHa in improving FH in girls with advanced bone age (BA) and decreased predicted height (PH) in borderline early or normal physiological puberty.Method: 135 ...

Background: 3-M syndrome is an autosomal recessive growth disorder characterised by severe pre- and post-natal growth retardation caused by mutations in CUL7, OBSL1 or CCDC8. Clinical characteristics include dysmorphic facial features and fleshy prominent heels with a variable degree of radiological abnormalities.Objective and hypotheses: Evaluation of four new patients from two different families. Cases:Family-1/Patients-1,2: Two ...

Background: Proopiomelanocortin (POMC) deficiency is characterized by severe, early-onset hyperphagic obesity and congenital adrenal insufficiency, the latter secondary to ACTH deficiency.Case: 3.5 years old female patient whose initial diagnosis was neurometabolic disease because of motor mental retardation, ataxia, and bilateral hyperintense lesions in the basal ganglia in magnetic resonance imaging, increased lactate-lipid peak in proton magnetic reso...

Background: VDDR-II, is an autosomal recessive disorder characterized by the early onset of rickets with hypocalcemia, secondary hyperparathyroidism and hypophosphatemia and is caused by mutations in the vitamin D receptor (VDR) gene.Objective and hypotheses: 2 years old Turkish girl first offspring of consanguineous parents admitted to the hospital for the evaluation of total alopecia and bilaterally genu varum deformity. She was born with normal pilosi...

Background: The most prominent clinical feature in patients with Turner syndrome (TS) is short stature.Objective and hypotheses: To assess the effect of GH and pubertal induction therapy on height gain in patients with TS.Method: 58 TS patients with a mean age of 18.9±7.2 years were documented retrospectively. Clinical findings, karyotype, impact of baseline age, dosage, baseline bone age, duration of the GH and pubertal induc...

Background: 46,XY DSD occurs as a result of testicular developmental disorders, defect in androgen synthesis or action. Nowadays, the diagnosis of DSD is quite costly and it takes a considerable amount of time due to lengthy hormonal and genetic analysis.Objective and hypotheses: The use of targeted next-generation sequencing of all known genes associated with 46 XY DSD for a fast molecular genetic diagnosis in patients in whom underlying defect of DSD w...

Aim: The purpose of this study was to assess whether pantoprazole could be a new treatment option in the therapy of children with obesity and insulin resistance.Methods: This study was conducted on 46 children and adolescents with exogenous obesity and insulin resistance. The patients were randomly chosen and divided into therapeutic groups of metformin, pantoprazole, and metformin plus pantoprazole.Results: There was no difference...