ESPE Abstracts

Aim: Gonadotropin-releasing hormone analogues (GnRHa) are widely used in the treatment of idiopathic central precocious puberty (ICPP) cases due to premature maturation of the hypothalamus-pituitary-gonad axis. The effect of GnRHa therapy on body weight and fat distribution is controversial in the literature. We aimed to examine the anthropometric measurements and body composition analysis of the girls with ICPP and to investigate the effect of related factors...

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...

Introduction: 17 β-Hydroxysteroid Dehydrogenase Type 3 (17β-HSD3) enzyme provides the conversion of ∆4-Androstenedione (A) to testosterone (T) in testicles. 17β-HSD3 deficiency is a rare autosomal recessive cause of 46,XY disorders of sexual development (DSD) and is the most common form of testosterone biosynthesis defects. The external genitalia can vary from normal female appearance to atypical genitalia.C...

Introduction: Although thyroid nodule is seen less frequently in childhood than in adults, it is more likely to be malignant. The aim of this study was to examine the characteristics of the patients followed up for thyroid nodules and to define the patients with malignant potential by laboratory, radiological and cytological evaluations.Method: 100 patients (F/M:63/37) with thyroid nodules followed up in Pediatric Endocr...

Introduction: MODY is an autosomal dominant inherited type of diabetes that has been diagnosed before the age of 25 and caused by pancreatic β-cell dysfunction. HNF1B-MODY is more rare than other MODY causes and its frequency is between 1-5%. Mutations in HNF1B (MODY 5) are associated with pancreatic agenesis, kidney anomalies, genital system malformations and liver dysfunction.Case: The patient is 8 years 2 ...

Introduction: Continuous Glucose Monitoring System (CGMS) takes place increasingly in the daily routines of diabetic patients. It has been shown that metabolic control improves when CGMS is used consistently. We aimed to show the effect of CGMS in patients using MDI therapyMaterials - Methods: All patients using multiple-dose insulin therapy at our center and continued their regular follow-up and using CGMS for at least three months were...

Introduction and Purpose: Patients with type 1 diabetes mellitus must be extremely concerned with what they eat and their insulin dose as part of their treatment. Therefore, the risk of eating disorders increases in this patient group. This study, it was aimed to determine the disordered eating behaviors of patients with Type 1 DM and to evaluate the results of the general demographic characteristics, diabetes care behaviors, and quality of life scale that whi...

Aim: In this study, we investigated whether there was a relationship between prolactin hormone (PRL), whose excess levels lead to infertility, and expression of Kisspeptin (Kiss1), Neurokinin (Tac2) and their respective Receptors.Material and Methods: In our study, 12-16 weeks old 40 female Wistar Albino rats were classified into three groups; control group (n=10), physiological saline (SF) (n=1...