ESPE Abstracts

Introduction: Childhood obesity has been associated with many physical and mental health problems.A significant relationship has been reported between psychiatric disorders, especially attention deficit hyperactivity disorder(ADHD) in obese patients due to the melanocortin 4 receptor(MC4R) gene variant, and it has been claimed that these two conditions may share common molecular pathways. However, studies on this subject are quite insufficient.<p class="ab...

Introduction: The most common cause of elevated TSH is iodine deficiency, and other common causes are drug use, systemic diseases, and underlying genetic conditions.Objective: We aimed to investigate molecular genetic etiology, genotype-phenotype relationships and the follow-up data in cases with elevated TSH initiated on L-thyroxine treatmentMethods: We retrospectively evaluated c...

Introduction: CAH is a common clinical condition with treatment and follow-up challenges. As a result, the adult height of the cases is known to be affected. We aimed to assess the growth and pubertal development of CAH patients and the factors that influence final height.Method: Between 1980-2022, 41 patients diagnosed with CAH were observed at our clinic. Only cases that attained the final height were retrospectively a...

Introduction: Langerhans cell histiocytosis (LCH) is a rare disease that the clinical presentation can vary from the involvement of a single region to widespread multiorgan involvement. The most common central nervous system infiltration is observed in the hypothalamic-pituitary region, which frequently leads to central diabetes insipidus (CD&Idot;) and occasionally to anterior pituitary hormone deficiencies. There is limited data on endocrinological findings,...

Introduction: Small-for-gestational-age (SGA) children frequently face challenges in achieving expected growth, with 10% experiencing growth failure and subsequently seeking pediatric endocrinologists for short stature. However, the determinants of growth hormone therapy response in SGA remain unclearObjective and Method: This study examines the three-year response to growth hormone (GH) therapy and factors affecting gro...

Introduction: Disorders of sex development (DSD) constitute a group of congenital conditions that affect urogenital differentiation and are associated with chromosomal, gonadal and phenotypic sex abnormalities.Objective: To evaluate clinical and genetic features of childhood DSD cases.Materials and Methods: DSD patients followed up between the years of 1981-2018 were evaluated in t...

Background: GnRH neurons originate outside the CNS in the olfactory placode and migrate into the central nervous system, becoming integral components of the hypothalamic-pituitary–gonadal axis (HPG).Objective and hypotheses: We hypothesize that gene(s), whose products are important for pubertal development can be identified via autozygosity mapping together with whole exome sequencing in patients with idiopathic hypogonadotrophic hypogonadism (IHH)/...

Background: What initiates pubertal process in humans and other mammals has remained elusive.Objective and hypotheses: We hypothesize that gene(s), whose products trigger the GnRH pulse generator to restart ticking at the usual time of puberty, can be identified via autozygosity mapping together with whole exome sequencing in patients with idiopathic hypogonadotrophic hypogonadism (IHH).Method: We studied a cohort IHH cases. Functi...

Introduction: MODY; is a rare type of diabetes that occurs clinically and genetically due to a single heterogeneous gene defect. To date, 14 different genes have been identified. In order to develop a holistic genetic diagnosis approach to monogenic DM, it is aimed to investigate molecular genetic diagnosis and responsible candidate genes with targeted new generation sequence analysis and whole exome sequencing (WES) method.Metho...

Keywords: Syndromic Obesity, Child, GeneticsObjective: Syndromic obesity is accompanied by dysmorphic findings, motor and mental retardation, and organ anomalies. In this study, we aimed to evaluate the patients who were followed up with a diagnosis of syndromic obesity in our clinic.Materials and Methods: Demographic, clinical, and biochemical data of the patients followed up betwee...