ESPE Abstracts

Background: Glucose is the main energy source for the brain’s cells. Glucose transporter 1 (GLUT1), encoded by the SLC2A1 gene, is a membrane protein that plays an essential role in the transport of glucose across the blood-brain barrier. A mutation in GLUT1, so-called GLUT1 deficiency syndrome (GLUT1 DS; OMIM #606777), results in low levels of glucose in the cerebrospinal fluid despite normoglycaemia. GLUT1 deficiency causes a series of symptoms that ma...

Background: The risk of pancreatitis increases when triglyceride levels rise above 1 000 mg/dl. This requires particular attention in subjects with type 2 diabetes, which is accompanied by elevated triglyceride levels in one in every two patients. Apheresis, a treatment option in pancreatitis developing secondary to hypertriglyceridemia, is expensive and not available in every centre. Another option, heparin administration, may result in rebound hypertriglyceridaemia. Thirdly,...

Objective: There have been very few studies, with contradictory results, on the serum trace elements in children and adolescents presenting with diabetic ketosis and diabetic ketoacidosis due to type-1 diabetes mellitus. The objective of this longitudinal controlled study was to determine serum trace element status including selenium (Se), zinc (Zn), copper (Cu), manganese (Mn), chrome (Cr), and cobalt (Co) in type-1 diabetic children and adolescents presenting with diabetic k...

Background: Kallmann syndrome (KS), the prototype of anosmic idiopathic hypogonadotropic hypogonadism (IHH), is charecterized with HH acompanied by anosmia, absence or hypoplasia of olfactory bulbus due to defective morphogenesis. Mutations in 10 genes have been reported to cause KS while can clarify the underlying molecular defect in about 30–50% of IHH/KS cases. Beside, PROK2 gene mutations are extremely rare cause of KS. Herein, we present KS due to a homozygo...

Background: Premature adrenarche (PA) is defined as the appearance of pubic and/or axillary hair in girls younger than 8 years old and caused by the rise in adrenal androgen production including dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulfate (DHEAS), and androstenedione (A4). DHEAS≥40 µg/dL is accepted as the biochemical marker of adrenarche. However, adrenals also produce 11-oxygenated C19 androgens such as 11β-hydroxyandrostene...

Introduction: Childhood hypophysitis (CH) is an extremely rare entity that has difficulties in definition and displays a wide variety of symptomatology. The volume and shape of pituitary gland may increase in physiological periods such as puberty and pregnancy, it may also change in various neuroendocrine and psychiatric diseases. It is important to distinguish physiological changes observed in the pituitary, especially in puberty, from hypophysitis.F...

Background: Mutations in CHD7 cause a rare multi-organ system disorder, CHARGE syndrome (CS). Genital hypoplasia has been described in 60-80% of reported cases because of idiopathic hypogonadotropic hypogonadism (IHH), which is a result of inadequate GnRH secretion in the hypothalamus. Correspondingly, IHH and anosmia are expected in cases with CHD7 mutation. However, due to the phenotypic spectrum of CHD7, mutations have also be...

Background: Liquid chromatography-mass spectrometry (LC-MS) based panels of steroid hormones and their precursors offer a distinct pattern of steroid metabolome for various disorders of adrenal and gonadal steroidogenesis. However, it may not be easy to handle this high throughput data rapidly in clinical setting which requires expert opinion for correct interpretations. Analytical results of steroid panelling can be allied to automated review systems to simpl...

Aim: In this study, we investigated whether there was a relationship between prolactin hormone (PRL), whose excess levels lead to infertility, and expression of Kisspeptin (Kiss1), Neurokinin (Tac2) and their respective Receptors.Material and Methods: In our study, 12-16 weeks old 40 female Wistar Albino rats were classified into three groups; control group (n=10), physiological saline (SF) (n=1...

Background: The variable presence of adrenal insufficiency (AI) due to hypocortisolemia (HC) in patients with thalassemia is well established; however, the prevalence of adrenocortical hypofunction (ACH) in the zona glomerulosa and zona reticularis of the adrenal cortex is unknown.Objective and hypotheses: To establish the prevalence of ACH, we examined the cortisol response to 1 μg- and 250 μg- ACTH tests, plasma aldosterone (A)/plasma renin a...