ESPE Abstracts

Introduction: Studies show that onset of puberty in girls is occurring at increasingly younger ages. Environmental endocrine disruptors are implicated in the etiology of early puberty. Polychlorobiphenyls (PCBs) are one of the endocrine disruptor with proven estrogenic effects.Aim: To investigate the effect of PCBs on premature puberty in girls.Materials-Methods: The study group was selected from girls aged 2–8 years with a di...

Background: The melanocortin-4-receptor gene (MC4R) is a key regulator of energy homeostasis, food intake and body weight which has intensively been analyzed in molecular genetic obesity research. MC4R dysfunction in humans causes hyperphagia, impaired satiety and obesity.Objective and hypotheses: To identify MC4R mutations prevelance in Turkish obese children and adolescents.Method: Ninenty three pediatric and adolescent patients ...

Background: Hereditary hypophosphatemic rickets with hypercalciuria(HHRH; OMIM: 241530) is a rare autosomal recessive disorder,which is the result of loss-of-function mutations in the sodium-phosphate-cotransporter NPT2c.This disorder is characterized by renal phosphate(Pi) wasting,hypercalciuria,increased 1,25 (OH)2-D levels and decreased parathormone(PTH) levels.Here we report the clinical features of two siblings with HHRH,confirmed with molecula...

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: 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 ...

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...

Background: Compliance of patients on GH treatment is very important for the success of the treatment. In a multıcentre study done in Turkey we had shown that compliance decreased at the end of 1st year of treatment which had an adverse effect on growth rate and IGF1 levels.Objective and hypotheses: To evaluate whether doing regular questionnaire to patients on GH has an effect on compliance at long term.Method: A questionnair...

Background: The 45,X/46,XY mosaicism represents a wide spectrum of phenotypes, from phenotypically normal females to males and varying degrees of genital ambiguity. Growth seems to be impaired in these patients. It is associated with increased risk of germ cell tumours.Aim: To evaluate growth, gonadal function and tumour risk in a large group of children with 45,X/46,XY mosaicism in a single tertiary centre.<p class=...