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...

Object&idot;ves: In congenital primary hypothyroidism, the effect of treatment on thyroid volume is not known. In this study, the change in thyroid volume according to etiology and its effect on treatment discontinuation rates in the treatment of congenital primary hypothyroidism were investigated.Mater&idot;als and Methods: The clinical features and thyroid ultrasonography findings at the time of diagnosis and at the ag...

Background: Pituitary gland imaging is conventionally done after the diagnosis of growth hormone (GH) deficiency was established, to ascertain the cause of GH deficiency.Objective and hypotheses: We aimed to determine the differantial diagnostic value of pituitary volume (PV) on GH deficiency, and effect of PV on responses to GH therapy.Method: This retrospective study was conducted on 102 growth hormone deficient (GHD) patients (5...

Background: Biomarkers other than microalbuminuria are needed to detect early kidney injury in adolescents with type 1 diabetes.Objective and hypotheses: We aimed to determine diabetic nephropathy in normoalbuminuric and normotensive diabetic adolescents with biomarkers related different segments of the glomeruli (podocalyxin, nephrin and liver type fatty acid binding protein (L-FABP)), and to assess the relationship among these biomarkers and glomerular...

Introduction: GLIS3 is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein that maps to chromosome 9p24.3-p23. Mutations in GLIS3 have been reported in association with Neonatal diabetes mellitus and hypothyroidism syndrome. We aimed to present a case of congenital diabetes mellitus congenital hypothyroidism associated with a newly identified mutation in the GLIS-3 gene.Case Report: A se...

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....

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: 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: Peripheral precocious puberty (GnRH independed): precocious development of secondary sexual characteristics may also be caused by mechanisms that do not involve activation of pulsatile GnRH secretion. Familial male-limited precocious puberty, also known testotoxicosis is a rare dominant form of gonadotropin independent precocity caused by constitutively activating mutations of the human LH choriogonadotropin receptor (LHCGR). If do not treat with appropriate drugs ...

Background: Although thyroid nodules are rare in children compared to adults, the risk of malignacy is higher. Thyroid fine-needle aspiration (FNA) is a reliable diagnostic method used in the prediction of malignancy in the evaluation of thyroid nodules together with clinical and ultrasonographic findings.Objective and hypotheses: To compare clinical, ultrasonographic, cytological and histopathological findings in patients who underwent FNA.<p class=...