ESPE Abstracts

"Steroidogenic Factor-1" (SF-1); It is encoded by the NR5A1 gene in 9q 33.3 and regulates the transcription of genes involved in steroidogenesis. It is reported that 46 of the variants in this gene constitute 10-20% of XY sex development disorders (DSD). The patient admitted because of a swelling in the left groin at one month old. She was raised as female. Uterus was 12x2.5 mm in ultrasonography and the gonad in the inguinal region was evaluated as testis. She was P...

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-Objective: Nephropathy, retinopathy, neuropathy are long-term microvascular complications of diabetes. Glycated hemoglobin (HbA1c), used as a glycemic control indicator, have proven to be indicative in the development of microvascular complications. In this study, the contribution of HbA1c variability to complication development was evaluated.Method: Twenty one cases with type 1 diabetes mellitus (T1DM) who ...

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: 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: 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...