ESPE Abstracts

Purpose: We aimed to determine the frequency and distribution of intracranial pathologies in patients over 8 years of age by evaluating MRI images of patients diagnosed with early puberty-rapidly progressive.Materials and Methods: The study comprised 118 female patients diagnosed with precocious puberty (PP) and rapidly progressive early puberty (RPEP). The onset of puberty in girls before the age of 8 years is defined a...

Background: The inactivating mutations of CYP24A1 (OMIM*126065) were first identified in idiopathic infantile hypercalcemia (IH) and named IH-type1 (IH1). However, biallelic mutations were later associated with hypercalcemia at various ages. In our study, we aimed to present the clinical and laboratory findings of our patients who presented with hypercalcemia and were found to have a mutation in CYP24A1.Methods and Resul...

Introduction: Phosphatase and tensin homolog (PTEN) is a tumor suppressor gene involved in the PI3K/AKT/mTOR pathway. Mutations in the PTEN gene are known to cause PTEN Hamartoma Tumor Syndrome (PHTS), an autosomal dominant disorder. This syndrome is characterized by proliferative lesions in various tissues, including the thyroid gland, breast, gastrointestinal system, kidneys, and endometrium. We present a patient who initially presented with a breast mass an...

Objective: Cystic fibrosis (CF) associated diabetes (CFRD) is a common comorbid condition in individuals with CF and its prevalence increases with age. There are reports in children aged 10 years and younger. The aimof this study was to estimate insulin resistance by HOMA-IR (Homeostatic Model Assessment) with oral glucose tolerance test (OGTT) data and Matsuda index to test glucose metabolism in relation to Matsuda insulin secretion in children with CF.<p...

Background: Resistance to thyroid hormone β (RTHβ) is a rare disorder characterized by a fairly heterogeneous clinical presentation due to varying degrees of tissue response to thyroid hormone. The study aim ed to evaluate the clinical, laboratory features, and genotype-phenotype relationship of Turkish patients with RTHβ.Patients and Methods: Patients who underwent a THRβ gene analysis betwe...

Introduction: Rathke's cleft cyst (RCC) is a non-neoplastic epithelial lesion of the sellar or suprasellar region. Although most RCC cases are asymptomatic, they can present with headache, visual defects, and endocrine dysfunction. We present a case diagnosed with a giant RCC postoperatively, characterized by short stature and multiple pituitary hormone deficiencies.Case: A 15-year-old male, who came with complaints...

Background: Familial Hypercholesterolemia (FH) increases the risk of atherosclerosis, leading to early cardiovascular disease (CVD) and death at a younger age. Therefore, this study aims to describe the clinical characteristics of FH patients, assess the outcome of adopting reverse cascade screening, and describe the complications and rate of mortality in FH cases followed at our center.Methods & Materials: This is a...

Background: Caregivers of patients with Bardet Biedl syndrome (BBS) face substantial burden from highly prevalent features of the disease, namely hyperphagia, or uncontrollable hunger, and obesity. However, the burden experienced by caregivers of individuals with BBS is not well characterized.Methods: A multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to quantify the burden experien...

Background: Hyperphagia, or pathologic insatiable hunger, and early-onset obesity are prevalent clinical features of Bardet-Biedl syndrome (BBS), a rare genetic disorder. While hyperphagia and obesity have broad impacts on individuals with BBS and their caregivers, the extent of this burden is not well characterized.Methods: This multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to q...

Introduction: Because of the associations and links between abnormal placental weight and both fetal and maternal disorders, it is important to have the national normal standard for placental weight as a normality reference.Aims: To find out the national placental weight standards for babies born between 37th and 43rd weeks of gestation in all groups of males and females babies born AGA, SGA, and LGA.<p class="abstex...