Endocrine Abstracts

Giant cell tumors are rare, benign but aggressive and locally invasive tumors that usually affect the long bones in the limbs, typically presenting during the 3rd or 4th decade of life. Giant cell tumors of the skull are exceedingly rare, and less than 150 cases have been reported to date, of which less than 10 were described in the pediatric population. Here, we present the case of a 14 year old female that progressively developed severe headaches, blurr...

With congenital hypopituitarism, the clinical manifestations of pituitary hormone deficiencies usually appear during infancy or early childhood. Typically, one or more anterior pituitary hormones are deficient, and the most severe manifestations include neonatal hypoglycemia, electrolyte imbalances and failure to thrive. We present the case of a 43 year old male, with cardiovascular and metabolic comorbidities (arterial hypertension, type 2 diabetes mellitus), with no prior ho...

Pineal germinomas account for the majority of intracranial germ cell tumors. Surgery and radiation are usual management options, and secondary hypopituitarism can ensue after both. Diabetes insipidus is particularly common after surgical removal of pineal tumors, but improvement in polyuria and polydipsia years after surgery is exceedingly rare. Here, we present the case of a 49-year-old male, who was diagnosed with a pineal germinoma at the age of 20, which was surgically rem...

Introduction: Chronic kidney disease (CKD) is associated with alterations in endogenous glucocorticoid regulation through various mechanisms: longer plasma cortisol half-life, reduced renal cortisol clearance, loss of 11b-HSD type 2 activity in the kidney contributing to an elevated cortisol/cortisone ratio, less effective hepatic metabolism of cortisol and, finally, hyperactivation of the hypothalamus-pituitary-adrenal axis due to acidosis, chronic stress, and inflammation.</...

Introduction: Craniopharyngiomas are rare tumors which are typically located in the sellar and suprasellar region. They can be solid or mixed, cystic-epithelial. Treatment options include surgery, radiation or intracystic therapy. Adipsic diabetes insipidus is a rare, life-threatening disease which can sometimes be associated with craniopharyngioma, either because of tumor mass effect, or as a postprocedure complication. Ultimately, this can cause severe hypernatremia, so long...

Introduction: Testotoxicosis, also known as familial male limited precocious puberty, is a rare cause of peripheral precious puberty caused by an activating mutation of the gene encoding for the LH receptor on Leydig cells (LHCGR gene, cr2p21). This causes autonomous testosterone production irrespective of prepubertal LH values. Ultimately, this can cause psychosocial complications; advanced bone age and low adult height; as well as central precocious puberty.<p class="abs...

Ectopic ACTH secreting syndrome is a rare cause of endogenous ACTH dependent Cushing syndrome. We aim to analyze clinical, biochemical, imaging profile, as well as management and outcomes of 7 EAS patients diagnosed in our clinic within the last 10 years, based on clinical presentation, hypercortisolism, high ACTH levels, specifically over 100pg/ml, with failed high dose dexamethasone suppression test. Clinical presentation was characteristic in 5 of the patients, but 2...

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal-dominant tumor syndrome associated with a wide tumor spectrum, in endocrine and nonendocrine tissues, key association being pituitary, parathyroid and enteropancreatic neuroendocrine tumors. Management of MEN1 is challenging because of its polymorphic, variable phenotypic expression.Case report: Here, we present the case of a 68 year old patient diagnosed in 2004 with an 18 mm ist...