ESPE Abstracts

Background: Euthyroid sick syndrome (ESS), also known as non-thyroidal illness or low T3 syndrome, is defined as low T3, low/normal T4 and inability of rise in TSH due to extrathyroidal diseases. Any condition resulting stress such as infectious diseases, sepsis, metabolic disorders and severe malnutrition can associate to ESS. Patients presented with type 1 diabetes mellitus (T1DM) are usually being screened for other autoimmune diseases inclu...

Background and objective: The first and rate-limiting step of steroidogenesis is the conversion of cholesterol to pregnanolone which is catalyzed by the P450scc side chain cleavage enzyme (encoded by CYP11A1 gene-SCC). Homozygous recessive mutations of the CYP11A1 gene cause a global steroid hormone deficiency thereby disorders of sexual development in 46, XY individuals with a variable phenotype depending on the mutation characteristics. About 60 cases of SCC...

Background: Metformin is a well-known biguanide approved for treatment of Type2 Diabetes. Metformin is not considered as an anti-obesity drug despite its common off-label use. Currently, there are no data regarding the profile of metformin related gastrointestinal side effects (MRGSE) in obese adolescents.Aim: To identify the frequency and time course of MRGSE in obese adolescents and assess the presence of any associati...

Background: Hereditary hypophosphatemia (HH), is a rare condition related to decreased renal tubular phosphate reabsorption. Although X-linked hypophosphatemia (PHEX mutation) is the most frequent cause of HH, recent advances in the next-generation sequencing (NGS) techniques enable the identification of various genetic etiologies. Our study aims to determine the molecular etiology of patients with hypophosphatemia and to identify new candidate genes....

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...

BMP4, a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily, is involved in the embryonic development of various organ and tissues including the cranio-facial structures, olfactory placode, pituitary, eyes, heart, and kidneys. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. BMP4 plays an important role in the embryonic development of the GnRH neurons ...

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: Vitamin D Dependent Rickets Type IA (VDDR-IA) is the most common type of VDDR and caused by mutations in CYP27B1. Here, we aimed to analyze the genotypic and phenotypic features of our VDDR-IA patients.Materials and Methods: The patients with a clinical diagnosis of VDDR-IA were enrolled and analyzed for CYP27B1 gene mutations.Results: 12 (5 males) pat...

The stimulants that the mother is exposed during pregnancy may affect the baby in the future. Electromagnetic field exposure is an important external stimulus that we are subject to. In addition to the interaction of the earth and the sun with the magnetic field of man; nowadays the intensive use of electrical appliances, computers, mobile phones and internet, how electromagnetic field exposure may affect future generations will only occur in the continuation of our generation...