ESPE Abstracts

Background: Published case reports and anecdotal experience suggest a positive effect of dexamphetamine on impetus and weight in patients with hypothalamic obesity.Objective and hypotheses: We aimed to observe these effects in our patients who are offered off-label treatment with dexamphetamine.Method: Between 2010 and 2013, patients starting dexamphetamine treatment were enrolled in a prospective observation study. BMI–SDS wa...

Growth response to daily GH treatment can be predicted using pre-treatment gene expression profiles.1 Once-weekly GH treatment potentially reduces the burden of daily injections2 and thus may be a major advancement in care for patients with GHD, vs standard, daily GH treatment. Here we investigate the prediction of first-year growth response based on pre-treatment blood transcriptome in children with GHD undergoing treatment with daily or once-weekly GH. ...

Background: For early identification of patients requiring adherence support, objective, real-time adherence data are needed. The easypod™ electromechanical injection device, in combination with the easypod™ connect ecosystem, electronically records and transmits, in real time, accurate records of the date, time and dose injected for patients receiving recombinant human growth hormone (r-hGH) to treat growth disorders. Healthcare professionals can us...

Introduction: Ellis Van Creveld syndrome (EVC) is a rare condition which is characterized with disproportionate short stature, postaxial polydactyly, and dysplastic nails and teeth. It is a rare autosomal recessive disorder due to mutations of EVC 1 and 2 genes located on chromosome 4p16. EVC syndrome is a chondroectodermal dysplasia. Congenital heart defects; especially atrial septal defect and single atrium occurs in 60% of affected individuals. Here we report a 5 year-old f...

Background: There is no agreement on the optimal treatment of children with vitamin D deficiency or insufficiency without obvious signs of rickets.Objective and hypotheses: To compare the efficacy and side effects of two different stoss therapy regimens (10 000 IU/kg and 300 000 IU vitamin D3) in children with vitamin D deficiency or insufficiency without rickets.Method: A total of ...

Background: DEND syndrome is characterized by developmental delay, epilepsy, and neonatal diabetes mellitus (NDM) due to mutations in KCNJ11 and ABCC8 genes. Intermediate DEND (iDEND) syndrome is a rare mild form with mild motor, speech or cognitive delay and an absence of epilepsy. Improvement in glycemic control and neurologic symptoms has been reported in three cases with iDEND syndrome.Objective and hypotheses: To present the result...

Background: Increased glycaemic variability (GV) (short-term fluctuations in blood glucose level) is associated with increased oxidative stress, vascular complications and mortality in diabetic and prediabetic patients.Objective and hypotheses: To investigate the relationship between GV and inflammatory markers in obese children with metabolic syndrome (MS) and insulin resistance (IR).Method: Fifty obese adolescents with insulin re...

Background: Subclinical hypothyroidism (SH) has an incidence of 3.2–22.2% in obese children. The etiology of increased prevalence of SH is still unclear in obese individuals.Objective and hypotheses: To investigate the relation of SH with iodine deficiency, serum leptin levels and metabolic parameters in obese children and adolescents.Method: One hundred and fifty nine obese and 54 healthy children and adolescents were include...

Background: GnRH agonists, leuprolide acetate (LA) and triptorelin acetate (TA), have been widely used in the treatment of central precocious puberty (CPP). But, a comparative data on the effectiveness of these two drugs for CPP treatment is very scarce.Objective: To compare the efficacies of TA and LA treatments in girls with idiopathic CPP.Patients and Methods: Sixty girls with rapidly progressive CPP treated with LA (n=...

Background: Swyer syndrome (46,XY pure gonadal dysgenesis) is a rare disorder, which is characterized by female phenotype, female internal genitalia and fibrotic and primitive gonads. Classically, breast development and menstruation are absent due to hypergonadotropic hypogonadism.Objective and hypotheses: To our knowledge, three cases of Swyer syndrome with spontaneous breast development have been reported so far. In these reports, breast development wa...