ESPE Abstracts

Background: Thalassemia major is a hemoglobin disorder characterized by regular transfusion requirement. Despite the regular transfusions and advanced iron chelation protocols, endocrine complications have been reported as the frequent morbidities of the disease.Objective and hypotheses: The aim of the study was to i) investigate the prevalence of endocrine complications, ii) to examine the relationship between endocrine complications and metabolic param...

Background: Stiff-person syndrome (SPS) is a rare disorder which is characterized by muscle rigidity, spasm and cerebellar abnormalities. The etiology is not clarified yet. 80% of cases are caused by an autoantibody against GAD that inhibits synthesis of GABA. Other autoimmune diseases such as type 1 diabetes mellitus and thyroiditis are often associated.Aim: To underline the importance of considering SPS in differential diagnosis of patients with type 1...

Aim: The present study compared the administration of levothyroxine (LT4) before breakfast and bedtime in school children diagnosed with hypothyroidism and analyzed the effects of timing on thyroid functioning and patient satisfaction.Methods: A total of 163 children with hypothyroidism (125 females and 38 males) between 8 and 18 years of age and taking LT4 for at least three months were enrolled in the study. The timing of administration of the drug of ...

Aim: The objective of our study was to investigate the physical examination and laboratory findings in obese children with or without primary headaches.Methods: A total of 161 children, aged 8-18, with obesity (90 female and 71 male) and primary headache, admitted to pediatric endocrinology and pediatric neurology department between 2013 and 2018 were evaluated retrospectively. Participants were divided into subgroups as with tension headache and migrain...

Background: Inhaled corticosteroids (ICS) and montelukast are commonly prescribed drugs in asthma treatment. Several studies have investigated the adverse effects of ICS on growth and weight gain in children. However, the biosafety studies of montelukast are mostly focused on the neuropsychiatric side effects. The present study aimed at investigating the adverse effects of montelukast and ICS on anthropometric parameters in children.Methods: The present ...

Objective: Congenital Hyperinsulinism(CHI) is a clinically, genetically, and histologically heterogeneous disease. Turkey is a county with highly prevalent cases of severe CHI due to the high rate of consanguinity and recessively inherited KATP gene mutations. We herein evaluated the clinical characteristics, molecular genetic analysis, and follow-up of a large nationwide cohort of CHI from Turkey.Patients and method: Th...

Background: Hypotonia–Cystinuria syndrome (HCS), characterized by hypotonia at birth, poor feeding and growth retardation is an autosomal recessive disorder caused by homozygous microdeletions of PREPL and SCL3A genes. Increase in the urinary amino acids including cystine, lysine, arginine, and ornithine is the main laboratory finding.Objective and hypotheses: HCS was described in 17 patients so far and previous reports with favorable responses to G...

Background: HVDRR is characterised by hypocalcaemia, secondary hyperparathyroidism and severe early-onset rickets in infancy and is diagnosed easily especially associated with alopecia.Objective and hypotheses: Successful treatment requires reversal of hypocalcaemia and secondary hyperparathyroidism and is usually failed by high dose calcitriol but sometimes accomplished by administration of high doses calcium. Some patients need enteral or parenteral co...

Background: Aetiologic causes should be evaluated in patients with central diabetes insipidus. Inflammatory and malign diseases must be exclude.Objective and hypotheses: A 9-year-old girl suffered from polyuria and polydipsia was diagnosed CDI. Adenohypohysis height and infudibulum thickness were increased 8 and 9 mm respectively. Physical findings were consistent with Tanner stage 1, height SDS −0.48, and BMI 91 percentile. Tumor markers and adeno...

Objective: The aim of this study was to evaluate demographic characteristics; clinical, laboratory, imaging features; and response to treatment of boys who were followed up and treated with the diagnosis of central precocious puberty (CPP) in Turkiye.Materials and Methods: The study was planned as a multicenter, retrospective study. Cases with a diagnosis of CPP, whose follow-up data were available were included. Patient...