ESPE Abstracts

Bardet-Biedl syndrome (BBS) is a rare and multisystemic disorder characterized by rod-cone dystrophy, post-axial polydactyly, learning difficulties, renal abnormalities, obesity and hypogonadism. The disorder is genetically heterogeneous. To date, 21 genes present on different chromosomes have been mapped. The most common genes are BBS1 (locus 11q13) and BBS10 (locus 12q21.2). We aimed to report two family with five affected children with typical clinical features of Bardet-Bi...

Objective: To determine the prevalence of metabolic syndrome (MetS) and the clinical utility of fat mass percentage (%fat) and estimated glucose disposal rate (eGDR) for predicting MetS in children and adolescents with type 1 diabetes (T1D).Method: We conducted a descriptive, cross sectional study including T1D patients between 8–18 years of age. Modified criteria of IDF, WHO and NCEP were used to determine the prevalence of MetS. eGDR, a validated ...

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: Severe hypertriglyceridemia (HTG) is a very rare complication of childhood diabetic ketoacidosis (DKA). The exact mecanism is unclear but transient insulin deficiency may cause a decrease in the activity of lipoprotein lipase. We report a case of girl with DKA and HTG.Case report: A 14-year-old girl, previously healthy and nonobese, presented with DKA following two months malaise, two weeks of polyuria and polydipsia. She was found to have DK...

Background: No large study comparing efficiency of prednisolone, alendronate and pamidronate has been conducted so far in children with hypercalcemia due to vitamin D intoxication.Objective and hypotheses: To perform a multicentre, retrospective study assessing clinical characteristics and treatment results.Method: A standard questionnaire was uploaded to an online national database system (www.favorsci.org) to collect data of chil...

Background: Perrault syndrome (PS) is a rare autosomal recessive condition characterized by sensorineural deafness and gonadal dysgenesis in females. The most commonly reported additional manifestations are neurologycal, including mental retardation, cerebellar hypoplasia, and neuropathy.Objective and hypotheses: Although sensorineural hearing impairment and ovarian dysgenesis are the cardinal signs of PS in females, PS is a genetically and clinically he...

Introduction: Short stature is a common manifestation of Noonan syndrome (NS). GH deficiency, GH insensitivity, and neurosecretory dysfunction have been reported in the literature. The optimal GH treatment for NS is still controversial. In this study, we aimed to evaluate the growth characteristics in addition to clinical features of NS, and the growth response to GH treatment by using a nationwide registration system.Material and methods: Children and a...

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: Vitamin D deficiency (VDD) is common in the general pediatric population of the world. Some studies reported that low vitamin D levels with an increased risk of diabetes.Objective and hypotheses: VDD can be more common in children with type 1A diabetes (DM1A) than those with type 1B diabetes (DM1B). To evaluate 25OHD levels in children with newly diagnosed DM1A and DM1B patients and investigate any relation with clinical and laboratory data a...

Background: Intrathyroidal ectopic thymic tissue is one of the rarest congenital abnormalities. Ectopic thymus tissue can be detected in various locations from the mouth or the base of the skull to the superior mediasteneum. We report here three cases of intrathyroidal ectopic thymus tissue who presented as thyroid nodules in different ages.Cases: Case 1: a 10-year-old girl had a guatr and her thyroid function tests were normal. Thyroid US showed a hypoe...