ESPE Abstracts

Background: It is known that PDX-1 gene mutation is related to neonatal diabetes, pancreas agenesis and intrauterine growth retardation. Here the aim was to present a novel defined mutation in PDX-1 gene in case born with IUGR, diagnosed with neonatal diabetes and in which exocrine pancreas deficiency and gallbladder agenesis were detected.Case presentation: Blood glucose was measured as 185 mg/dl in the first hour after birth and insulin infusion was gi...

Background: 17 hydroxylase deficiency is a rare form of congenital adrenal hyperplasia resulting from loss-of-function mutations involving the CYP17 gene. It is characterized by decreased production of glucocorticoids and sex steroids and increased synthesis of mineralocorticoid precursors.Objective and hypotheses: We aimed to identify genetic cause of lack of puberty in a girl and the cause of ambiguous genitalia in her sibling. Fourteen-year-o...

Background: X-linked lissencephaly with ambiguous genitalia (XLAG) syndrome which is a clinical spectrum of ARX mutations is presented with severe growth deficiency, abnormal genitalia and resistant seizures in neonatal period. We present a XLAG case which was formed due to a new ARX mutation and has an appearance of a huge interhemispheric cyst different from classic neuroradiological imagings.Case: The case which was diagnosed with prenatal hydrocephal...

45,X/47,XYY mosaicism is quite rare, and, like 45,X/46,XY, it can be associated with mixed gonadal dysgenesis, Turner syndrome or apparently normal male/female phenotype. An infant aged 16 days, born full-term via spontaneous vaginal delivery to a 32 year-old G1P1 woman. His pregnancy and perinatal period were both uncomplicated except for maternal long QT syndrome. There was third degree cousin consanguinity between the parents. There was no any virilizing drug use and no mat...

Background: Collodion babies (CBs) are an inherited group of diseases characterized clinically by diffuses severely dry and scaling skin. Patients are generally born prematurely and/or small for gestational age (SGA). Congenital hypothyroidism is seen together with various congenital anomalies, although the mechanism involved is still unclear.Objective and hypotheses: To identify endocrinological problems, and particularly those concerning growth, in 42 ...

Background: Hashimoto thyroiditis (HT) is part of the spectrum of autoimmune thyroid diseases and is characterized by the destruction of thyroid cells by various cell- and antibody-mediated immune processes.Objective and hypotheses: The aim of this study was to evaluate clinical and laboratory findings and determine the prevalence of celiac disease (CD) in children with HT.Method: A total of 80 patients with positive anti-thyroid a...

Background: Subclinical hypothyroidism (SH) is defined as an elevated serum concentration of TSH when serum free thyroxine (fT4) concentration is within its reference range. Impaired myocardial contractility in overt hypothyroidism and left ventricular (LV) diastolic dysfunction in adults with SH as well as beneficial effects of thyroid hormone replacement on systolic and diastolic functions in adults with SH has been documented, however the presence of similar alte...

Background: In blood, leptin is suggested to circulate both in the free form as well as bound to soluble leptin receptor (sLR) and possibly also to other as yet unidentified binding protein. However, the role of the sLR in the regulation of the physiological function of leptin is until now unclear.Objective and hypotheses: We aimed to investigate the relation of serum leptin and sLR levels with metabolic and anthropometric parameters in obese and healthy...

Background: Many clinicians are aware of the systemic complications of obesity, however there are few studies on the effect of the ocular manifestations of obesity. The ocular complications of obesity include diabetic retinopathy, high intraocular pressure, cataracts, macular degeneration, floppy lid syndrome, pseudotumor cerebri, and exophthalmos. All of these complications can have serious consequences to the individual’s ocular health and visual well-being.<p class...

Background: Polycystic ovary syndrome (PCOS) is characterized by ovulatory dysfunction and excess androgen secretion. Androgens may affect bone marrow cells via androgen receptor which expressed in the bone marrow. Also it is known that especially testosterone increases hemoglobin and hematocrit concentrations.Objective and hypotheses: Our aim in this study is to describe the relation between hyperandrogenism and complete blood count (CBC) parameters in ...