ESPE Abstracts

Introduction: Rathke's cleft cyst (RCC) is a non-neoplastic epithelial lesion of the sellar or suprasellar region. Although most RCC cases are asymptomatic, they can present with headache, visual defects, and endocrine dysfunction. We present a case diagnosed with a giant RCC postoperatively, characterized by short stature and multiple pituitary hormone deficiencies.Case: A 15-year-old male, who came with complaints...

Introduction: It has been suggested in the literature that gynecomastia may occur in patients with neurofibromatosis type 1 (NF-1) and may develop due to neurofibroma or stromal tissue hyperplasia. In this case study, we will share our experience of managing a patient diagnosed with NF-1 who developed gynecomastia before puberty.Case: A nine-year-old male patient with a diagnosis of NF-1 presented with complaintsof short...

Introduction: Adipsic diabetes insipidus (ADI) arises from the destruction of both antidiuretic hormone (ADH) neurons and osmoreceptors in the hypothalamus. This condition is characterized by polyuria, loss of thirst sensation and hypernatremia. Managing serum sodium levels is particularly challenging, often resulting in fluctuations in serum sodium and osmolality, which elevate the risk of morbidity and mortality. This report presents the clinical follow-up o...

Introduction: Central Diabetes Insipidus (CDI) is characterized by polyuria, polydipsia and weight loss, resulting from impaired secretion of Antidiuretic Hormone (ADH) in response to serum osmolarity changes. Langerhans Cell Histiocytosis (LCH)is an inflammatory myeloid neoplasm that can affect all organ systems, with central nervous system involvement frequently localized in the posterior pituitary. This report presents a case of pituitary stalk thickening d...

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...

Introduction: Derivative chromosome is a rearrangement involving two or more chromosomes or the presence of multiple abnormalities in a single chromosome and always contains intact centromere. Segmental anomalies such as inversion or translocation in derivative chromosome may result in partial duplication or deletion during meiosis. Chromosomal translocations usually result in miscarriage and multiple anomalies (common neurodevelopmental defects, growth retard...

Introduction: WAGR syndrome was first described in 1964 by Miller et al. And is characterized by Wilms tumor, aniridia, genitourinary anomalies, and developmental delay. Endocrine/metabolic problems (obesity, dyslipidemia, hypertension, short stature), especially obesity, are seen in more than 70% of cases with WAGR syndrome. Here, we aimed to present a case with WAGR syndrome for endocrine evaluation.Case: A 12...

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....

Introduction: Familial hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disease characterized by very low serum magnesium levels. It is caused by mutations in the gene encoding the transient receptor potential melastatin 6 (TRPM6). It typically occurs in the first months of life with symptoms of increased neuromuscular excitability such as convulsions, muscle spasms and tetany. Prolonged untreated hypomagnesemia may lead to developmenta...