ESPE Abstracts

Resistance to thyroid hormone (RTH) is a rare genetic disease caused by reduced tissue sensitivity to thyroid hormone. The hallmark of RTH is elevated serum levels of thyroid hormone with unsuppressed thyrotropin (TSH). The most common form of RTH results from minor defects in the ligand-binding domain of the TRb gene, resulting in impaired T3-induced transcriptional activity. This study aimed to characterize clinical and genetic features of THD suspected cases in our clinic. ...

Background: The aim of this study is to determine menstruating girls’ sectional characteristics and the frequency of the menstrual problems.Method: The study was done in randomly selected primary, junior and high schools at Kayseri Province between December 2014–March 2015. After obtaining the permits adolescent girls in 9–18 age groups were included in the study. Following preliminary information, informed consent forms and questionnaires...

Type 1 diabetes mellitus (TIDM) is a very familiar chronic disease among pediatric endocrinologists. It is known that chronic diseases can affect their growth velocity and final height. The aim of the study is to determine how TIDM affects children's growth velocity during the childhood period.Material-Method: This cohort study used data from patients with TIDM participating in our clinic for the last 13 years. The patient had other...

Background: Metabolic syndrome (MS) is increasingly reported in obese children. So far, MS evaluations were performed for children at the age of 10 and over.Objective and hypotheses: Our aim is to evaluate the prevalence of MS and insulin resistance (IR) in obese children between 3 and 9 years old according to modifying National Cholesterol Education Program Adult Treatment Panel-III (NCEP-III) and International Diabetes Federation (IDF) criteria.<p ...

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: In the pediatric age group, the incidence of the adrenocortical cancer (ACC) is 0.2%. The effective treatment is surgical resection. The only medical option is mitotane but it has negative effects on steroidogenesis. The difficulty in the management of mitotane therapy is discussed in this case.Case report: An 1110/12 years-old boy was referred with A 5 cm diameter solid-hypoecoic mass observed by sonography in the left surrenal ...

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: Luteinizing hormone stimulating hormone (LHRH) test is the gold standard test in the diagnosis of puberty precocıous (PP). The basal levels of FSH (follicular stimulating hormone) and LH (luteinizing hormone) cannot be always reliable.Objective and hypotheses: To investigate the relation between the LHRH test and basal levels of FSH and LH.Method: Girls with puberty started before the age 8 are investigated. Eighty...

Background: Chanarin–Dorfman syndrome is a rare autosomal recessively inherited neutral lipid disorder which is characterized by congenital ichthyosis and multiple system involvement. It is diagnosed by visualization of lipid vacuoles in neutrophiles (Jordon anomaly) in suspicious cases. This syndrome can be associated with type 2 diabetes.Aim: We wished to remind this very rare disease in differential diagnosis of ichthyosis associating with diabet...