ESPE Abstracts

Introduction: The annual incidence of Langerhans cell histiocytosis (LCH) is 5 per million in admission with a diagnosis of isolated central diabetes insipidus (CDI) in children under the age of 15. Here, the process leading to the diagnosis of LCH at presentation with isolated CDI, imaging findings, and the sellar erosion, which has not been previously reported in the literature, will be discussed.Case presentation: A 4-year-5-month-old...

Aim: This study aimed to compare the levels of appetite-regulating hormones (ghrelin, leptin, peptide-YY (PYY), neuropeptide-Y (NPY)) in girls with idiopathic central precocious puberty (ICPP) before treatment with prepubertal girls, and to evaluate changes in these hormone levels and body composition during leuprolide acetate (LA) treatment.Methods: This prospective, cross-sectional study included girls with ICPP, isola...

Introduction: Genetics, diet, and physical activity are just a few of the variables that determine child growth rates, but seasonal variations in these variables can also have an impact on growth patterns. Among kids aged four and five, we looked at the seasonality of changes in height, body weight, and BMI.Methods: This was a pilot study carried out in Palestine at a private school where psychological factors could be r...

Objective: Obesity is a multifactorial genetic disorder. Monogenic obesity, explaining 5-13% of early-onset cases, is often associated with hyperphagia and reduced energy expenditure. Syndromic obesity involves additional clinical features such as developmental delay, hypogonadism, and sensorial hearing deficits. This study aims to enhance the understanding and management of patients with syndromic obesity by evaluating their anthropometric, laboratory, and cl...

Background: Frasier syndrome (FS) is a rare inherited disease characterized by gonadal dysgenesis and progressive nephropathy, resulting from mutations in intron 9 splice donor site of the Wilms’ tumor suppressor gene 1 (WT1). It can be associated with 46,XY gonadal dysgenesis (female external genitalia with a 46,XY karyotype). Gonadoblastoma usually occurs in the second decade of life but can develop as early as 9 months of age in children with gonadal ...

İntroduction: Amiodarone, an iodine-rich antiarrhythmic agent, is associated with thyroid dysfunction in 15-20% of patients, potentially leading to amiodarone-induced thyrotoxicosis. The etiology of amiodarone-induced hyperthyroidism encompasses two distinct mechanisms: iodine-induced hyperthyroidism (Type 1) prevalent in patients with Graves' disease or nodular goiter, and destructive thyroiditis-induced hyperthyroidism (Type 2) observed in individu...

Context: There is a limited data from large cohorts regarding pubertal characteristics of children with classical 21-hydroxylase deficiency(21OHD).Objective: To explore the timing and tempo of puberty, and pubertal height gain(PHG) in children with 21OHD-CAH.Design: A multicenter observational, retrospective, longitudinal analysis.Patients: D...

Background: Androgens play a pivotal role in non-reproductive tissues, such as the kidney, heart, and liver, as well as the pancreas. Since the androgen receptor is expressed in pancreas and liver cells, this raises the possibility that excess testosterone results in insulin hypersecretion, and in fetuin-A, a protein produced in the liver. However, whether fetuin-A and insulin levels are affected by androgens in classic congenital adrenal hyperplasia (CAH) due...

Background: Osteogenesis imperfecta (OI) is a genetic disorder characterized by diffuse osteoporosis, recurrent fractures, and resulting deformities. Bruck syndrome (BS) is a rare autosomal recessive disease that manifests with many symptoms of OI. In addition to the deficiency of type I collagen in OI, congenital joint contractures also occur in BS. BS is caused by mutations of FKBP10 (BS type 1) and PLOD2 (BS type 2) genes encoding the chaperone-collagen com...

Objective: Endocrine disorders following acute lymphoblastic leukemia (ALL) treatment are notable in high-risk groups and those receiving high-dose chemotherapy due to bone marrow transplantation (BMT) or relapse. This study investigates endocrine effects after ALL treatment.Methods: The study included cases diagnosed with ALL during childhood between 1995 and 2020, treated with the BFM-1995 protocol, and followed for at...