ESPE Abstracts

Background: The long-acting growth hormone (LAGH) somatrogon has been found to be as effective and safe as daily somatotropin in the treatment of children with GH deficiency (GHD). Somatrogon administered once weekly has the potential to improve treatment adherence and height prognosis.Objective: We aimed to evaluate the first real-life data on somatrogon therapy, which was launched in Türkiye in October 2023.<p...

Objectives: Advanced hybrid closed-loop (AHCL) therapy with the Medtronic MiniMed™ 780G system improves glycemia; however, the clinical outcomes in younger children remain less established. The evaluation of the use of the Medtronic MinimedTM 780G in children under 7 years old was aim ed.Methods: Children under 7 years old with type 1 diabetes mellitus (T1D) using MiniMed™ 780G AHCL and a control g...

Introduction: Osteogenesis imperfecta (OI) is a disease related to collagen synthesis or fuctions. Collagen is found in many areas of the cardiovascular system. Endotelial dysfunction can be detected at an early stage before the symptoms become evident by non-invasive radiologic methods such as flow-mediated dilatation (FMD), carotid intima-media thickness (CIMT), and ventricular functions measurements, which may serve as indicators of endothelial dysfunction....

Introduction: CPHD is characterized by impaired production of GH and one or more other pituitary hormones. Genetic defects causing CPHD typically result in insufficient anterior pituitary gland development.Aim: The aim of the study is to determine the genetic etiologies that lead tocombined hormone deficiencies. Todetermine phenotype genotype relationship with or without extra-pituitary anomalies.<...

Introduction: Microarray (SNP array) method offers a powerful full genome scanning opportunity in the diagnosis of disorders of sex development (DSD).Aim and Method: We aimed to determine the copy number variations (CNVs) by using the microarray method to elucidate the molecular etiology in DSD patients. The variants found were scored according to the American College of Medical Genetics and Genomics criteria.<p clas...

Introduction: Gonadal insufficiency is a common long-term endocrinological complication of BMT and is mainly associated with the chemotherapy protocol. In the literature, gonadal insufficiency after BMT varies between 66% -80% in girls and 35-60% in boysAim: to investigate the frequency and the factors affecting gonadal insufficiency in cases with BMT due to non-malignant indications in children or adolescenc...

Introduction: Lipodystrophies are heterogeneous group of disorders; characterized by congenital or acquired loss of fat tissue. These disorders can causes severe metabolic complications during childhood. Case: 10.5 years old girl admitted to our clinic due to pigmented lesions on her body. She was investigated due to sclerotic lesions on her legs when she was 8 years old and was diagnosed as scleroderma and methotrexate was initiated. On physical examination weight was 47 kg (...

Aim: Data on response to GH treatment in the very young children with GH deficiency is scarce. The aim of this study was to evaluate the growth response in such children in a national multicentre study and to analyse the factors affecting the growth response.Materials and methods: In this study, we retrospectively evaluated the files of GH deficiency patients who had started GH treatment between 0–3 years of age who were being followed in 14 differe...

Introduction: Premature ovarian failure (POF) is defined as ovarian failure developing before the age of 40. The etiology of genetic POF is quite heterogeneous and can be due to genetic, autoimmune, environmental, viral infections or iatrogenic causes.Objective: The aim of this study is to investigate the molecular genetic causes of non-syndromic POF cases with the gene panel based on next generation sequence analysis an...

Introduction: The etiology of hyperandrogenism is diverse and diagnosis is based on history, clinical findings, reliable measurement of steroid hormones and genetic analyzes. In the electrochemiluminescence immunoassay (ECLIA) method, the presence of various endogenous compounds and the use of certain pharmaceutical agents may cause interference in results, on the other hand liquid chromatography-mass spectrometry (LC-MS/MS) method allows measurement of 17 adr...