ESPE Abstracts

Background: Bilateral inferior petrosal sinus sampling (IPSS) is the gold standard for determining the source of hypercortisolism in ACTH-dependent Cushing's syndrome. Traditionally, IPSS is performed with CRH stimulation. Since CRH has been unavailable recently, intravenous desmopressin administration may be preferred during IPSS.Case Report: A 13-year-old boy presented with a weight gain of 10 kg and a decreased h...

Background: Familial Mediterranean Fever (FMF) is the most common hereditary periodic fever syndrome in Turkey. The effects of FMF on growth and puberty characteristics have yet to be investigated. This study aims to describe the features of children with FMF in terms of growth and puberty and compare them with healthy children.Methods: This retrospective study analyzed the clinical and laboratory records of 140 FMF-diag...

Background: Current Turkish growth reference charts based on anthropometric measurements of individuals with high socioeconomic status in Istanbul in 1989-2002 (TK2002) had shown an increase of mean adult height (1.4 and 2.7 cm in males and females) compared with 1978. Given recent improvements in nutrition, hygiene and access to preventive health services, we hypothesized that this positive secular trend may continue.Methods:</s...

Background: Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive, clinically and genetically heterogeneous, pleiotropic disease characterized by the immotile primary cilia, leading to an MC4R pathway impairment. In addition to syndromic features, patients present with hyperphagia, early-onset obesity, metabolic syndrome (MetS) and increased risk of type 2 diabetes. Here, we aimto describe metabolic features and MetS z-score in a group of rare BBS cases.<...

Background: P450 oxidoreductase (POR) deficiency is a rare cause of congenital adrenal hyperplasia (CAH) with a wide spectrum of clinical phenotypes including glucocorticoid deficiency, difference/disorder of sex development (DSD), skeletal malformations, and Antley-Bixler syndrome. We describe the clinical and molecular characteristics of a large cohort with POR deficiency with long-term data.Methods: The medical record...

Introduction: The frequency of solid and hematological malignancies has been reported to be higher in children with Turner syndrome than in the general population. Mycosis fungoides (MF) represent the most common type of cutaneous T-cell lymphoma, which is a low-grade lymphoproliferative disease. To the best of our knowledge, the coexistence of Turner syndrome and MF has not yet been reported. Here, we report a girl with Turner syndrome and MF.<p class="ab...

Background: Some obese children are metabolically healthy obese (MHO), while some are metabolically unhealthy obese (MUO) having dyslipidemia and/or insulin resistance which increase mortality and morbidity related to cardiovascular diseases during adulthood.Objective and hypotheses: This study is designed to assess factors affecting metabolic condition in obesity and compare clinical and laboratory findings between MHO and MUO children.<p class="abs...

Central hypothyroidism (CeH) is characterized by thyroid hormone deficiency due to impairment of pituitary TSH or hypothalamic TRH biosynthesis. CeH is often seen as a part of multiple pituitary hormone deficiencies, but it can also be seen as isolated. Diagnosis may be challenging. To date, some variants that can cause isolated CeH have been identified; although in a number of patients the cause has not been clarified. Recently, variants of the insulin receptor substrate 4 (<...

Introduction: Graves’ disease (GD) is the most common cause of the hyperthyroidism in children and adolescents. Patients may present with norological, ophtalmological, cardiovascular and psychiatric symptoms. The aim of this study is to present the sociodemographic data (age, gender, etc.), clinical findings, quality of life and psychiatric symptoms of the children diagnosed with Graves’ disease and compare these data with the control group matched...

Introduction: Central precocious puberty (CPP) occurs as a result of early activation of the hypothalamic-pituitary-gonadal axis. CPP. In recent years, especially after the COVID pandemic, presentations with signs of precocious puberty and cases requiring treatment have increased all over the world. Recent studies have showed that CPP patients are more likely to have social and psychiatric problems than their peers of the same age and gender. The aimof our stu...