ESPE Abstracts

Introduction: Crooke’s cell adenoma (CCA) is an aggressive subtype of corticotroph adenoma, it is usually large, frequently invades surrounding tissues, and is resistant to both surgery and radiotherapy.Case Report: A 13-year-old girl, admitted with weight gain for more than 3 months. Her height was 147.5 cm (-1.5 SDS), weight 58.5 kg (1.1 SDS), BMI 26.89 kg/m2 (2 SDS) and blood pressure was 100/78mmHg. Her i physical exa...

Introduction: CPHD is characterized by impaired production of GH and one or more other pituitary hormones. Genetic defects causing CPHD typically result in insufficient anterior pituitary gland development.Aim: The aim of the study is to determine the genetic etiologies that lead tocombined hormone deficiencies. Todetermine phenotype genotype relationship with or without extra-pituitary anomalies.<...

Introduction: Diabetic ketoacidosis (DKA) is a life-threatening acute complication of type 1 diabetes mellitus (T1DM) and infection is the most common precipitating factor for DKA and is responsible for more than 50% of cases.Aim: We evaluated the frequency and severity of DKA in children with T1DM, before and during the coronavirus disease 2019 (COVID-19) outbreak, in order to identify its indirect effects on DKA incide...

Introduction: Idiopathic short stature(ISS) refers to children who are short because there is no identifiable defect in the growth hormone (GH)/insulin-like growth factor(IGF) axis and no other endocrine or genetic disorders. The genetic etiology of ISS in children was investigated in this study using targeted next-generation sequencing(NGS).Method: Eighty patients with short stature of unknown etiology were included in ...

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...

Keywords: Gender Dysphoria/ &Idot;ncongruence, child and adolescent, attitudes toward transgendered individualsObjective: To investigate physicians' knowledge and attitudes evaluating children and adolescents with gender dysphoria/incongruence (GD/GI) concerning care and treatment.Materials and Methods: A questionnaire targeting the knowledge and experiences of physicians and ...

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...

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...

Keywords: Non-syndromic obesity, single gene disorder, child.Objective: This study aimed to evaluate the clinical characteristics, molecular genetic analysis results, and obesity-related comorbidities of patients with non-syndromic monogenic obesityMaterials and Methods: The results of a targeted next-generation sequence analysis panel (Clinical Exome Solution v2 - SOPHiA GENETICS)...

Introduction: In cases of disorder of sex development (DSD), the change between the gender assigned at birth and the individual's chosen gender identity can occur especially after puberty.Aim: was to determine the relationship between genetic sex, gender assigned at birth and gender identity, and the importance of molecular diagnosis.Method:154patients older than 14years of ag...