ESPE Abstracts

Objectives: Anti-Müllerian hormone (AMH) is produced by Sertoli cells in the testicles and granulosa cells in the ovaries. Increased abdominal adipose tissue initiates metabolic and endocrine disorders and predisposes to polycystic ovary syndrome. AMH is used as a marker in PCOS. A decrease in AMH levels has been reported in adults with obesity and increased central adiposity. The purpose of this study was to assess the serum AMH level and related factors...

Entry: Rickets is a generalized metabolic bone disease manifested by the abnormal increase in osteoid tissue, defective mineralization and deformation of the epiphyseal plate, which occurs as a result of vitamin D and mineral deficiency before epiphysial fusion occurs in adolescence. Although rickets is mostly seen due to vitamin D deficiency, it can rarely be seen in vitamin D metabolism disorders and diseases that cause phosphorus loss. Clinical findings suc...

Introduction: Studies show that onset of puberty in girls is occurring at increasingly younger ages. Environmental endocrine disruptors are implicated in the etiology of early puberty. Polychlorobiphenyls (PCBs) are one of the endocrine disruptor with proven estrogenic effects.Aim: To investigate the effect of PCBs on premature puberty in girls.Materials-Methods: The study group was selected from girls aged 2–8 years with a di...

Background: ATP-binding cassette transporter A1 (ABCA1) mediates the transport of cholesterol and phospholipids from cells to lipid-poor apolipoproteins. It has been demonstrated that the ABCA1 gene C69T single nucleotide polymorphism (SNP; TT genotype) is associated with lower HDL cholesterol and higher triglycerides (TG) levels. The relation of this polymorphism with type 2 diabetes mellitus has also been shown.Objective and hypotheses: As dys...

Introduction: Family history is observed in approximately 10% of the cases with type 1 diabetes mellitus (T1DM). The most important gene that determines susceptibility is the human leukocyte antigen complex (HLA) on chromosome 6. In HLA genes; specific combinations of alleles at DR3, DR4, DRB1, DQA1 and DQB1 locus either predispose or protective for T1DM. In this study, we aimed to investigate the molecular genetic etiology by whole exome sequence (WES) analys...

Introduction: Crooke’s cell adenoma (CCA) is an aggressive subtype of corticotroph adenoma, it is usually large, frequently invades surrounding tissues, and is resistant to both surgery and radiotherapy.Case Report: A 13-year-old girl, admitted with weight gain for more than 3 months. Her height was 147.5 cm (-1.5 SDS), weight 58.5 kg (1.1 SDS), BMI 26.89 kg/m2 (2 SDS) and blood pressure was 100/78mmHg. Her i physical exa...

Introduction: Lipodystrophies are heterogeneous group of disorders; characterized by congenital or acquired loss of fat tissue. These disorders can causes severe metabolic complications during childhood. Case: 10.5 years old girl admitted to our clinic due to pigmented lesions on her body. She was investigated due to sclerotic lesions on her legs when she was 8 years old and was diagnosed as scleroderma and methotrexate was initiated. On physical examination weight was 47 kg (...

Introduction: Premature ovarian failure (POF) is defined as ovarian failure developing before the age of 40. The etiology of genetic POF is quite heterogeneous and can be due to genetic, autoimmune, environmental, viral infections or iatrogenic causes.Objective: The aim of this study is to investigate the molecular genetic causes of non-syndromic POF cases with the gene panel based on next generation sequence analysis an...

Introduction: The etiology of hyperandrogenism is diverse and diagnosis is based on history, clinical findings, reliable measurement of steroid hormones and genetic analyzes. In the electrochemiluminescence immunoassay (ECLIA) method, the presence of various endogenous compounds and the use of certain pharmaceutical agents may cause interference in results, on the other hand liquid chromatography-mass spectrometry (LC-MS/MS) method allows measurement of 17 adr...

Introduction: Diabetic ketoacidosis (DKA) is a life-threatening acute complication of type 1 diabetes mellitus (T1DM) and infection is the most common precipitating factor for DKA and is responsible for more than 50% of cases.Aim: We evaluated the frequency and severity of DKA in children with T1DM, before and during the coronavirus disease 2019 (COVID-19) outbreak, in order to identify its indirect effects on DKA incide...