ESPE Abstracts

Introduction: In cases of congenital and acquired hypothyroidism, there can be a development of resistance to Levothyroxine (LT4) over time. The cause of this clinical picture is unknown and often improves later in life. However, in some cases or receptor expression disorders, it may be necessary to add T3 to the treatment to overcome this condition.Aim: This study aims to determine the characteristics of cases where per...

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...

Purpose: Peripheral precocious puberty is a variant of puberty in which gender characters emerge independent of the hypothalamo-pituitary axis. It may occur with ovarian-testicular-adrenal pathologies, hCG-secreting tumors, Mc. Cune Albright Syndrome, or an endocrine disruptor that may be a source of exogenous estrogen. In premature menarche, which is the other variant of early puberty, prepubertal uterine bleeding is observed independently of other findings o...

Introduction: The impact of COVID-19 on the thyroid axis is still unclear. The most recent studies have presented contradictory findings. Theoretically, both direct toxic effects and indirect inflammatory responses can influence thyroid functions. A limited number of studies conducted in pediatric patients have revealed cases of hypothyroidism, hyperthyroidism, and nonthyroidal illness syndrome occurring during the COVID-19 infection.<st...

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...

Introduction: The SLC34A1 gene encodes the NaPi-IIa cotransporter, which plays an important role in phosphate reabsorption in the kidney proximal tubule. Inactivating mutations of this gene cause nephrolithiasis and osteoporosis, together with clinical pictures such as hypophosphatemic rickets type 1, Fanconi renotubular syndrome type 2, and infantile hypercalcemia type 2.Case: A 40-day-old male patient presented with me...

Introduction: Aggrecan, a chondroitin sulfate proteoglycan encoded by the ACAN gene, is an important structural component of the cartilage matrix. Variants in the ACAN gene are associated with a group of skeletal dysplasias called aggrecanopathy, which shows a broad phenotypic spectrum. It has been reported that some heterozygous variants in this gene are responsible for the etiology of familial or idiopathic short stature located at the lightest end of the sp...

Entrance: HOXA gene deletions cause an appearance characterized by short stature, mild developmental delay, characteristic face, small hands and feet, short and large thumbs, and urogenital malformations. Clinical signs may vary according to the content of the deletion region.Case: The case applied to our clinic with the complaint of short stature. It was learned that the patient was born at term 2500 gr and had bilatera...