ESPE Abstracts

Objective: To determine the clinical features and frequency of endocrinological problems in Down syndrome patients.Materials and Methods: We retrospectively evaluated the hospital records and patient files of 59 patients with Down syndrome. The study included patients with Down's syndrome between 0 and 17 years old whose diagnosis was cytogenetically proven.Results: 28 patient...

Objective: To evaluate the correlation of GNAS gene mutation in clinically diagnosed pseudohypoparathyroidism patients and to examine accompanying hormonal abnormalities and phenotypic features.Materials and Methods: Our study group consisted of 6 patients who were followed and treated with the diagnosis of pseudohypoparathyroidism in our clinic. Calcium (Ca), phosphorus (P), and parathyroid hormone (PTH) levels were eva...

Objective: Studies contain evidence that anemia in diabetic patients may lead to the development of microvascular and macrovascular complications by causing hypoxia and oxidative stress in peripheral tissues. In this study, we aimed to determine the frequency and risk factors of anemia in children with type 1 DM.Material and Methods: The study group included 82 children with Type 1 DM aged between 1 and 18 years with dis...

Objective: Our goal was to identify the etiological distribution of our hypoglycemia-diagnosed patients, who presented to pediatric clinics with a variety of symptoms.Materials and Methods: We conducted the study by retrospectively examining recoded data from patients who applied to pediatric emergency services, pediatric outpatient clinics, pediatric metabolism, and endocrinology outpatient clinics between 2015 and 2021...

Objective: Our goal is to determine the impact of bullying on the general physical and emotional health (anxiety and depression) of children with short stature.Method: From September 2020 to December 2020, we conducted a prospective cross-sectional and descriptive study, comparing children aged between 8 and 18 years diagnosed with short stature at a tertiary care Education and Research Hospital, a pediatric endocrinolog...

Background: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disease and characterized by early-onset diabetes, spondyloepiphyseal dysplasia, short stature, osteopenia, acute liver failure, and neurological deficit. It results from mutation in a gene of the eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3).Objective and hypotheses: We report two WRS patients diagnosed in infantile period.Me...

Background: Early tooth loss could be the consequence of the local or systemic diseases. We present an odontohypophosphatasia case with otosomal dominant mutation in ALPL gene.Objective and hypotheses: We report a case with odontohypophosphatasia and his family investigation.Method: Three-years-old boy admitted to our pediatric endocrinology clinic with toothloss without any other dental or gingival disease. His serum levels calciu...

Context: Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regarding their clinical presentation and diagnosis is limited.Objective: To gain further insight into the diagnosis of a large cohort of 46,XX individuals with duplications upstream ...

Background: Pheochromocytomas and paragangliomas (PPGLs) are rare pediatric neuroendocrine tumors. Data on the diagnosis, treatment and follow-up of PPGL in children are limited and lack standardization. Furthermore, variations in access to diagnostic and therapeutic resources across centers contribute to inconsistencies in clinical management.Aim: To identify variations in the clinical management of paediatric PPGL with...

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...