Endocrine Abstracts

Background: Nelson syndrome is a rare complication of Cushing disease (CD), which occurs either in patients with very aggressive CD or as a result of misdiagnosis. Clinical characterization of patients with Nelson syndrome could provide important insights in management of the disorder.Methods: We analyzed medical records of patients with CD between 2015 and 2021 to identify those who developed Nelson syndrome.Results: Nine patients...

Introduction: Adrenocorticotropic hormone-producing pancreatic neuroendocrine neoplasm is a rare type of pancreatic neuroendocrine tumor that causes ectopic adrenocorticotropic hormone syndrome. Cushingoid manifestations and metabolic abnormalities can occur rapidly. High index of suspicion is required for early diagnosis. Case: A 31-year-old Filipino female presented with facial and ankle swelling that occurred 6 weeks before the visit. She also had acn...

Introduction: Thyrotoxicosis resistant to the usual treatment is rare, but potentially fatal. In such situations, the optimal next treatment is unclear. Iopanoic acid (IA) was historically used as an oral contrast agent; it’s capacity to treat thyrotoxicosis has been limited in recent years due to its restricted availability.Methods: Retrospective case note review of patients treated with IA for resistant thyrotoxicosis at our institution over the p...

Background: Papillary thyroid cancer (PTC) incidence has increased substantially over the last decades. Although 4% of thyroid cancers may induce a sarcoid reaction in the thyroid gland, sarcoidosis (SA) as a disease may exist with PTC, although causality remais uncertain and their coexistence is rarely reported in the literature. They occurs in both genres, between 30–40 years, but females are more predisposed.Case presentation: A 65-year-old man, ...

Introduction: Central diabetes insipidus is a rare disorder, characterized by a failure of the posterior pituitary to produce vasopressin that lead to hypotonic polyuria and polydipsia. Diabetes insipidus may be due to post-pituitary surgery, where sometimes the posterior lobe also has to be removed or damaged; other injury as fractures of the skull, trauma, infiltrative lesions, tumors/metastases, idiopathic or rare genetic causes. As the sensation of thirst is the key homeos...

Introduction: Recent advance of genetic testing has contributed to the diagnosis of hereditary pheochromocytoma and paraganglioma (PPGL). Germline mutations in MYC associated factor X(MAX) are responsible for 1.1% of these PPGL; the median age at onset is 33 years and no reliable penetrance estimation is available for MAX-carriers. The authors present the case of a synchronous bilateral pheochromocytoma that prompted the discovery of a proband of MAX mutation and three other r...

Aims were: 1. To evaluate the prevalence of impaired cognitive functions and depression in patients with type 2 diabetes mellitus (T2DM) and compare between groups.2. To evaluate the association of cognitive functions and depression with age, gender, BMI, insulin dose, marital status and education in patients with T2DM.Methods: Case-control study of T2DM where patients with high insulin doses (>1U/kg/24 hrs) and uncontrolled di...

Introduction: MEN4 syndrome is a recently described form of MEN in patients with parathyroid and anterior pituitary tumors, which may also develop bronchial, gastric and pancreatic neuroendocrine tumors. In general, the patients present with clinical signs of primary hyperparathyroidism and simptoms caused by pituitary hormones hypersecretion or due to the tumor mass. However, clinical cases with the coexistence of pituitary tumors and pheochromocytoma are very rare described....

Introduction: Multisystem Langerhans cell histiocytosis (LCH) is a rare heterogeneous disorder caused by accumulation in multiple organs of dendritic cells phenotypically similar to cutaneous Langerhans cells. Pituitary involvement is present in about 25% of cases, and central diabetes insipidus is the most common deficit in that setting. Panhypopituitarism is rare, but hypothalamic-pituitary dysfunction is amongst the most frequent long-term complications of the disease.<...

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor derived from the thyroid C cells producing calcitonin, ac-counts for 0.6% of all thyroid cancers. It occurs either sporadically or in a hereditary form (RET mutation). MTC can be cured only by complete resection of the thyroid tumor and any loco-regional metastases. Calcitonin (CT) measurement is crucial to the early diagnosis and the follow-up of MTC. If the evaluation of stimulated CT levels is required, a prov...