ESPE Abstracts

Background: Nutritional rickets continues to be an important health care problem. Its incidence has decreased in our country following the free vitamin D distribution that started in 2005 but it continues to stay on the agenda as a preventable disorder.Aim: Our aim was to evaluate patients diagnosed with nutritional rickets following the vitamin D supplementation program.Method: We evaluated patients diagnosed with nutritional rick...

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...

Introduction: The production of ischemia-modified albumin (IMA) is associated with the production of reactive oxygen species modifying the metal-binding sites of albumin. IMA is considered a non-specific early biomarker in the evaluation of oxidative stress status. Cortisol is known to trigger anti-inflammatory actions through genomic and non-genomic pathways that eventually lead to decreased production of cytokines, chemokines, and inducible nitric oxide synt...

Introduction: ‘Receptor tyrosine kinase-like orphan receptor 2 (ROR2)’ is a transmembrane protein tyrosine kinase encoded by the ROR2 gene. Pathogenic mutations in ROR2 are involved in two diseases: biallelic loss-of-function mutations in Robinow syndrome and monoallelic gain-of-function mutations in brachydactyly type B1. Recently, monoallelic loss-of-function mutations in ROR2 have been reported as a cause of isolated short stature. Here we repor...

Introduction: Silver-Russell syndrome (SRS) is a rare, well-defined genetic disease characterized by intrauterine and postnatal growth retardation, short stature, triangular face, relative macrocephaly and body asymmetry. The most common molecular pathologies are loss of methylation (50%) of the imprinting center in the p15.5 region of the paternal 11th chromosome and maternal uniparental disomy of the 7th chromosome (5-10%). The IGF2 (insulin-like growth fact...

Introduction: Interstitial deletions on the long arm of the 12th chromosome are rare and often occur de novo. These deletions have been found to be associated with mental retardation, developmental delay, growth retardation and various congenital anomalies in different studies. In studies up to date, it has been determined all interstitial 12q deletions are clustered between five regions on this chromosome (HMGA2, GRIP1, LEMD3, MSRB3, and TMBIM4). Low birth we...

Introduction: Primrose syndrome was defined in 1982. It is characterized by characteristic facial appearance, macrocephaly, global developmental delay, intellectualdisability and calcification in the outer ear. It occurs with loss-of-function mutations in the ZBTB20-gene. This gene is a transcriptional gene suppressor regulator and is effective on neurogenesis, glucose homeostasis, and postnatal growth. Here, a case with Primrose syndrome will be presented.</p...

Objective: AMH decreases by 30% in the first two years following puberty. Although it is known that AMH is associated with FSH and LH, the AMH response to rapid changes in GnRH is not known clearly in puberty. It has been shown that AMH levels in central precocious puberty (CPP) are lower than in premature thelarche (PT), but the levels of AMH in peripheral precocious puberty (PPP) have not been evaluated. The aim of this study was to evaluate the basal an...

Background: Prohormone convertase is an enzyme that converts many biologically inactive prohormones into biologically active peptides. Its deficiency is characterized by deficiency of variable levels in all the hormone systems. In relation to this, postprandial hypoglycemia has been reported but, a case of prohormone convertase deficiency presenting with a diagnosis Type 2 diabetes mellitus has not been previously reported.Case p...

Introduction: DICER1 syndrome is a pleotropic, autosomal dominant familial genetic tumor predisposition syndrome. DICER1 somatic + germ-line mutations (double hit hypothesis); cystic nephroma; pleuropulmonerblastoma, ovarian sex cord-stromal tumors, multinodular goitre (MNG) are associated with many conditions such as differentiated thyroid cancer, pituitary blastoma. We presented three cases, two of whom were siblings, who had been consulted because of no...