ESPE Abstracts

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...

Introduction: Type 1 Diabetes Mellitus (T1DM) is a chronic disease in children and adolescents.There are studies showing that quality of life is affected in T1DM. In our study, we aimed to evaluate the effect of diabetes knowledge levels on quality of life and metabolic status.Methods: Patients aged >10 years who were diagnosed with diabetes mellitus in our clinic and who were given diabetes education and who had reg...

A 13-year-old patient was admitted due to delayed puberty. Ovary and uterus had not seen in USG and MRI. On physical examination; body weight: 57 kg (79 P), height 157.7 cm (45P), BMI: 22.9 (83P), TA: 120/80 mmHg. The patient was externally in female appearance and there was no puberty development. Labia minora was seen. The urethral and vaginal openings were in the vestibulum and bilateral gonads could not be palpated in the inguinal canal. Mother and father was cousin. Fathe...

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: The variable presence of adrenal insufficiency (AI) due to hypocortisolemia (HC) in patients with thalassemia is well established; however, the prevalence of adrenocortical hypofunction (ACH) in the zona glomerulosa and zona reticularis of the adrenal cortex is unknown.Objective and hypotheses: To establish the prevalence of ACH, we examined the cortisol response to 1 μg- and 250 μg- ACTH tests, plasma aldosterone (A)/plasma renin a...

Background: Pancreas transcription factor-1 alpha (PTF1A), encoded by the PTF1A gene, is a beta helix loop(bHLH) protein which involved in the development of the pancreas and cerebellar neurogenesis. Although mutations of PTF1A cause permanent neonatal diabetes(PNDM), pancreas agenesis and cerebellar agenesis, PTF1A enhancer mutations reported causing PNDM and isolated pancreas agenesis. In the present study, we evaluate the phenotyp...

Background: Thyroid cancer is a very rare malignancy of childhood. Approximately they account for 1.5% of all cancers before 15 years of age. In our country, this rate is %0.4 before 20 years of age.Aims and objectives: To analyses the clinical features and treatment results of children with thyroid malignancy in Turkey.Methods: In this multicentric and retrospective study the demographic and clinical characteristics of 124 childre...

Background: Lipodystrophy syndromes comprise a large group of extremely rare diseases characterized by loss or dysfunction of adipose tissue. Due to their extreme rarity and variability, research in the field of lipodystrophy is difficult for single centres warranting larger co-operations.Methods: Therefore, the European Consortium of Lipodystrophies decided to found an international registry in 2016. This registry is ba...

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...