ESPE Abstracts

Background: Osteogenesis imperfecta (OI) is a genetic disorder characterized by diffuse osteoporosis, recurrent fractures, and resulting deformities. Bruck syndrome (BS) is a rare autosomal recessive disease that manifests with many symptoms of OI. In addition to the deficiency of type I collagen in OI, congenital joint contractures also occur in BS. BS is caused by mutations of FKBP10 (BS type 1) and PLOD2 (BS type 2) genes encoding the chaperone-collagen com...

Objective: Endocrine disorders following acute lymphoblastic leukemia (ALL) treatment are notable in high-risk groups and those receiving high-dose chemotherapy due to bone marrow transplantation (BMT) or relapse. This study investigates endocrine effects after ALL treatment.Methods: The study included cases diagnosed with ALL during childhood between 1995 and 2020, treated with the BFM-1995 protocol, and followed for at...

Carney Complex (CNC) is a rare genetic disorder characterized by multiple endocrine and nonendocrine neoplastic manifestations across various organ systems, primarily driven by mutations in the PRKAR1A gene. The most common clinical effects are on the adrenocortical axis. This study seeks to dissect the clinical heterogeneity observed in CNC patients with PRKAR1A mutations, emphasizing the adrenocortical axis and its impacts on patient outcomes.C...

Objectives: American Thyroid Association (ATA) and European Thyroid Association (ETA) published guidelines about evaluation, treatment and follow-up. Despite these recommendations, published data on this subject is insufficient. This study aims to investigate the outcome of pediatric DTC and factors predicting the response to therapy in pediatric DTC.Methods: Medical records of 46 children diagnosed with DTC, between 200...

Introduction: Neonatal severe hyperparathyroidism (NSHPT) is a life-threatening disease characterized by hypercalcemia and bone demineralization due to homozygous or compound heterozygous loss-of-function mutations in the calcium-sensing receptor (CaSR) gene. Most cases require emergency parathyroidectomy to be life-saving. Alternative treatments, such as pamidronate and cinacalcet, may be used until surgery is feasible. We present a case of severe hypercalcem...

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...

Introduction: Mini-puberty is defined as the transient activation of the hypothalamic-pituitary-gonadal (HPG) axis during the first 3-6 months of life. Postnatal HPG activation occurs more robustly and for a longer duration in premature infants compared to term infants. In this report, we present a case of severely premature infant who presented with vaginal bleeding during the mini-puberty period.Case: A 5-month and 12-...

Introduction: Peutz-Jeghers syndrome (PJS) is a disorder characterized by autosomal dominant inheritance, hamartomatous polyps in the gastrointestinal system, mucocutaneous pigmentation, and a predisposition to malignancies, caused by mutations in the STK11 gene. In male patients, large cell calcifying Sertoli cell tumors associated with prepubertal gynecomastia can be observed. We present a case of prepubertal gynecomastia that led to a diagnosis of PJS durin...

Objective: Fetuin-A has many different functions due to its ability to bind to different toll-like receptors in different tissues. Working in different groups will contribute to our understanding of the pathophysiology of Fetuin-A. In this study, we aimed to evaluate Fetuin-A levels in obese adolescents and the relationship between Fetuin-A and anthropometric data, insulin levels and high sensitivity CRP(HSCRP). Material and Meth...

Introduction: Policystic ovarian syndrome (PCOS); is an endocrinopathy characterised by overlap of hyperandrogenism and hyperinsulinism and chronic anovulation. Etiopathogenesis is still not clearly defined. Fetuin-A is aserum glycoprotein. It is shown to play regulatory functions in many inflammatory processes. We aim to define the relationship of fetuin-A levels with hyperandrogenism and hyperinsulinism in PCOS patients and study the role in pathophysiology....