ESPE Abstracts

Introduction: Primary ovarian insufficiency (POI) is a condition characterized by amenorrhea with elevated FSH and LH levels as a result of ovarian dysfunction. Ovarian failure is a very rare condition in pediatric population. Genetic syndromes (Turner, Fragile X syndrome) or malignancy treatment are the main reasons. The minichromosome maintenance complex component 8 (MCM8) gene is responsible for the repair of DNA double-strand breaks;MCM8 is a rare cause of...

Objective: The primary aimof this study was to determine the normal values of thyroid gland size measured by ultrasonography (US) in healthy term newborn infants. The secondary objective was to compare the measurements made with handheld and standard US devices.Materials and Methods: Healthy newborn infants aged 0-30 days were included in the study. Thyroid size was measured twice: first between days 1-2 and again betwee...

Keywords: children, primary osteoporosis, next-generation sequencingBackground: Primary osteoporosis (POP) is a rare bone fragility disorder of childhood and is mainly related to osteogenesis imperfecta (OI). However, patients without clinical OI features with recurrent long bone and/or vertebral fractures who comply with the osteoporosis criteria are considered to have non-OI POP. Diagnosis and classification of non-OI ...

Introduction: 5-Hydroxymethylfurfural (HMF) is formed when sugars like glucose and fructose are heated in the presence of amino acids. HMF is naturally present in many foods and we are exposed to HMF in daily life. There are conflicting data on potential genotoxic, mutagenic, carcinogenic, DNA-damaging, organotoxic and enzyme inhibitory effects of HMF and its metabolites. We aimed to investigate toxic effects of HMF on reproductive system in peripubertal rats....

Background: Maturity-Onset Diabetes of the Young (MODY) is a rare monogenic form of diabetes that result in β-cell dysfunction. MODY accounts for 2–5% of all diabetes cases. We presented here a family with MODY2 caused by a novel heterozygous p.L164I (c.490 C>A) mutation of the GCK gene.Case: A 15,5-year-old girl was admitted to our department because of fasting hyperglycemia. She had no polyuria, polydipsia and weight loss...

Background: Intratubular Large Cell Hyalinizing Sertoli Cell Neoplasia (ITLCHSCN) resulting from Sertoli cells of the testis are mainly reported in young adults and these are rarely seen in childhood.Objective and hypotheses: In this case report, an eight-and-a-half-year old case presenting with complaint of bilateral gynecomastia since two years, showing no endocrine abnormality in laboratory during 2-years of follow-up, determined to have progression i...

Background: Macro TSH is a high molecule weighed complex with low bioactivity that is comprised of TSH and anti-TSH antibodies. Potentiality of macro TSH should be kept in mind in clinically euthyroid and asymptomatic patients with normal free T4 and T3 levels and relatively high TSH levels. Diagnosis of macro TSH is suspected if polyethylene glycol (PEG) precipitable TSH exceeds %75 and confirmed if high molecule weighed TSH is shown with gel filtration ...

Background: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by reduced sensitivity of target tissues to thyroid hormone.Objective and hypotheses: We describe the clinical, biochemical data and mutation analysis of two patients and their families with (RTH).Method: We conducted clinical studies and genetic analysis of these two patients and their families.Results: First patient refer...

Background: Attention-deficit hyperactivity disorder (ADHD) is one of the most common psychiatric problems of adolescent and childhood. Methylphenidate is a psychostimulant drug in use of attention-deficit hyperactivity treatment as a first choice modality.Objective and hypotheses: The aim of this study is to evaluate the levels of leptin, ghrelin and nesfatin-1 in relation to slowdown in growth and poor appetite.Method: Total of 8...

Background: Turner syndrome (TS) is associated with increased arterial stiffness. To date, factors associated with the ontogeny of Turner arteriopathy remain unclear.Objective and hypotheses: To assess the associations of vascular biomarkers and the somatotrophic axis with arterial stiffness indices, and left heart size, in normotensive ‘dipper’ TS.Method: Sixty-one patients with uncomplicated normotentensive &#1...