Immune System Effects on the Endocrine System

ABSTRACT   The immune system is a host defence system that combines multiple mechanisms to protect an organism from several pathogens and the development of disease. The endocrine and immune system crosstalk and multiple immune processes are involved in endocrine diseases. Defects of immune tolerance associated with genetic and environmental factors result to the development […]

Von Hippel-Lindau Disease

ABSTRACT   Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumor syndrome. The incidence of VHL disease is about one in 36,000 livebirths and the penetrance is higher than 90%. Similar to other tumor suppressor gene disorders, VHL disease is characterized by frequent development of specific types of tumors in selective organs. The disease […]

Carney’s Complex

ABSTRACT   Carney complex (CNC) is a rare dominantly inherited syndrome of multiple neoplasia’s combined with cardio-cutaneous manifestations. Approximately 70% of index cases have a familial history, while the remaining 30% have a de novo germline mutation. Hitherto, two loci have been principally involved in the genetics of CNC:  the CNC1 gene, located on 17q22-24, […]

Autoimmune Polyglandular Syndromes

ABSTRACT   The autoimmune polyglandular syndromes are clusters of endocrine abnormalities that occur in discreet patterns in subjects with immune dysregulation and that permit treatment and anticipation of associated systemic or other hormonal deficiencies. Three major entities are recognized, APS1, APS2 and APS3. An additional category occurs in patients treated with immunoregulatory agents for cancer, […]

Multiple Endocrine Neoplasia Type 2A (including Familial Medullary Carcinoma) and Type 2B

ABSTRACT Multiple Endocrine Neoplasia (MEN) type 2 A and B autosomal dominant syndromes are rare endocrinopathies characterized by tumors of the C cells of the thyroid, adrenal medulla and parathyroid glands.. MEN2A have either C-cell hyperplasia (CCH) or medullary thyroid cancer (MTC), 50% pheochromocytoma (Pheo), and 20-30% hyperparathyroidism (HPT). Patients with MEN2B have a 100% […]

Multiple Endocrine Neoplasia Type 1

ABSTRACT   MEN-1 syndrome is a rare autosomal dominant disease with a high degree of penetrance, characterized by hyperplasia and/or neoplasia of the parathyroid, pancreatic islet cells, and pituitary, usually prolactinomas. Hyperparathyroidism occurs in about 90%, pNETs in 60% and pituitary adenomas in 40% of patients. The most common pNET is a gastrinoma frequently found […]

Stress, Endocrine Physiology and Pathophysiology

ABSTRACT Stress is a state of threatened homeostasis caused by intrinsic or extrinsic adverse forces (stressors) and is counteracted by an intricate repertoir of physiologic and behavioral responses aiming to maintain/reestablish the optimal body equilibrium (eustasis). The adaptive stress response depends upon a highly interconnected neuroendocrine, cellular and molecular infrastructure, the stress system. Key components […]