Medical Eponyms
A detailed list of eponyms in endocrinology and diabetes care (hormone science)
| Eponym | Description | Gland/Organ |
|---|---|---|
| Nelson’s syndrome | The unregulated expansion of a pituitary tumor after bilateral adrenalectomy in patients with refractory Cushing’s disease (loss of negative feedback control by adrenal-derived cortisol). | Pituitary |
| Cushing’s disease | Pituitary ACTH dependent Cushing’s syndrome. | Pituitary |
| Sheehan’s syndrome | Hypopituitarism in the setting of postpartum hemorrhage. | Pituitary |
| Simmonds’ disease | Generalized cachexia due to damage to the anterior pituitary gland. | Pituitary |
| Wolfram syndrome (DIDMOAD) | diabetes insipidus, diabetes mellitus, optic nerve atrophy, and deafness (sensorineural hearing loss), hence the acronym DIDMOAD | Pituitary |
| Histiocytosis X | lymphadenopathy, cerebellar ataxia, tachypnea, and dehydration ( due to central diabetes insipidus) | Pituitary |
| Jod-Basedow syndrome | Iodine-induced hyperthyroidism. “Jod” is the German word for iodine. Patients with endemic goiter, euthyroid Graves’ disease, and Hashimoto’s thyroiditis are at risk for this condition. | Thyroid |
| Plummer’s disease | Toxic multinodular goiter | Thyroid |
| de Quervain’s thyroiditis | Subacute granulomatous thyroiditis. | Thyroid |
| Hashimoto’s thyroiditis | Chronic inflammatory infiltration of the thyroid associated with progressive fibrosis of the thyroid parenchyma. | Thyroid |
| Riedel’s thyroiditis | A rare, benign, inflammatory condition of the thyroid with associated fibrosis of thyrocervical tissues. It can present with hypocalcemia (fibrotic infiltration of the parathyroid glands) or hypothyroidism. Patients may also present with neuronal paralysis due to nerve infiltration. | Thyroid |
| Wolff-Chaikoff effect | A temporary reduction in thyroid hormone synthesis in the setting of an acute iodine load. The Wolff-Chaikoff effect is an adaptive response to transient changes in iodine concentration. There is a brief inhibition of the thyroid peroxidase enzyme after an acute iodine load. Also, impaired activity of the sodium-iodide symporter reduces further iodine uptake, an adaptation that facilitates the eventual resumption of thyroid hormone synthesis. | Thyroid |
| Refetoff Syndrome | A syndrome of inappropriately normal or high serum TSH in the setting of thyroid hormone excess. The syndrome is also known as thyroid hormone resistance. | Thyroid |
| Hashitoxicosis | An initial transient hyperthyroid phase of Hashimoto’s thyroiditis. | Thyroid |
| Pendred’s syndrome | sensorineural hearing loss (SNHL), goiter, and hypothyroidism | Thyroid |
| Addison’s disease | Primary adrenal insufficiency characterized by glucocorticoid, androgen, and mineralocorticoid deficiency. | Adrenal |
| Conn’s syndrome | Primary hyperaldosteronism with adrenal adenoma(s) | Adrenal |
| Schmidt’s syndrome | Addison’s disease associated with autoimmune thyroid disease in patients with polyglandular autoimmune syndrome type 2. | Adrenal |
| Carpenter’s syndrome | Schmidt’s syndrome with associated type 1 diabetes mellitus in patients with polyglandular autoimmune syndrome type 2. | Adrenal |
| Cushing’s syndrome | Hypercortisolemia due to a cortisol secreting tumor, pituitary, or ectopic source of excess adrenocorticotropic hormone (ACTH) production or exposure to supraphysiological levels of exogenous glucocorticoids. | Adrenal |
| Addisonian anemia | Pernicious anemia in the setting of Addison’s disease | Adrenal |
| Carney complex | A mutation in the gene encoding the type 1 alpha subunit of protein kinase A is implicated in the Carney complex. Clinical features include functional pituitary tumors, cardiac myxomas, caf?-au-lait macules and ACTH independent hypercortisolemia (PPNAD) | Adrenal |
| Carney Dyad or Carney-Stratakis syndrome | gastric gastrointestinal stromal tumors (GISTs) and paragangliomas (PPGLs). An autosomal dominant mutation of the succinate dehydrogenase (SDH), an enzyme critical in the electron transport chain. SDH genes are tumor suppressor genes; as such, a loss-of-function mutation in these genes predisposes patients to tumors. | Adrenal |
| Carney triad | It is composed of the features of the Carney dyad (GISTs and PGLs) and pulmonary chondromas. . Unlike the Carney dyad, the Carney triad occurs in the absence of a mutation in the SDH gene. A defect in the SDH gene function, however, occurs as a result of an epigenetic phenomenon characterized by hypermethylation of the SDH gene. | Adrenal |
| Allgrove’s syndrome | Allgrove or triple-A syndrome is composed of a triad of achalasia, alacrimia (absence of tears), and adrenal insufficiency. A mutation in the AAAS gene, which encodes a protein called ALADIN. ALADIN is critical in maintaining the integrity of cellular membranes, control of steroidogenesis, and redox reactions in the adrenal gland. | Adrenal |
| Wermer’s Syndrome | Multiple Endocrine Neoplasia type 1 (Pancreatic tumors, parathyroid tumors, pituitary tumors, adrenal cortical tumors, and schwannomas) | Pancreas |
| Whipple’s triad | A triad of hypoglycemic symptoms, biochemically confirmed hypoglycemia, and reversal of hypoglycemic symptomatology after correction of hypoglycemia. | Pancreas |
| Zollinger-Ellison syndrome | Hypergastrinemia in the setting of a pancreatic gastrin-secreting neuroendocrine tumor. Most gastrinomas occur in the gastrinoma triangle, which is an imaginary triangle drawn through the pancreatic head, porta hepatis, and the transition point between the second and third parts of the duodenum. | Pancreas |
| Verner-Morrison syndrome | Syndrome of chronic watery diarrhea, hypokalemia, and achlorhydria (WDHA syndrome) occurs in patients with vasoactive intestinal peptide-secreting pancreatic neuroendocrine tumors. | Pancreas |
| Kussmaul’s breathing | Patients with severe metabolic acidosis as might occur in diabetic ketoacidosis develop a terminal, deep, and rapid respiratory pattern called Kussmaul’s respiration. It heralds an impending state of respiratory failure requiring assisted ventilation. A characteristic fruity odor due to acetone, often described as similar to the smell of nail polish remover, can be appreciated during the physical examination | Pancreas |
| Somogyi effect | The Somogyi effect has classically been described as rebound early morning hyperglycemia in the setting of significant fasting, overnight hypoglycemia. This colorful eponym in diabetology was first reported by Michael Somogyi in 1959 | Pancreas |
| Albright’s Hereditary Osteodystrophy | Shortened fourth metacarpals or metatarsals in the setting of pseudohypoparathyroidism or pseudopseudohypoparathyroidism. | Parathyroid |
| Von Recklinghausen’s disease of bone | Osteitis fibrosa cystica with the formation of brown tumors. | Parathyroid |
| Albright’s anemia | Association of primary hyperparathyroidism with anemia. | Parathyroid |
| DiGeorge’s syndrome | Hypoparathyroidism, congenital heart disease, and a poorly developed thymus. | Parathyroid |
| Sipple’s syndrome | Multiple Endocrine Neoplasia Type 2a (Medullary thyroid cancer, pheochromocytomas, and parathyroid hyperplasia or adenomas) | Parathyroid |
| Albers-Schӧnberg disease | Autosomal dominant osteopetrosis type II (ADO2) is also known as Albers-Schӧnberg disease. The clinical features of this disease include non-traumatic fractures, cranial nerve palsies, and osteoarthritis | Parathyroid |
| McCune Albright syndrome | McCune Albright syndrome is characterized by fibrous dysplasia of bone, sexual precocity, and characteristic macular lesions called “café-au-lait” skin pigmentation | Parathyroid |
| Stein Leventhal Syndrome | Polycystic Ovarian Syndrome | Miscellaneous |
| Von Hippel Lindau syndrome | Germline mutation in the VHL tumor suppressor gene. | Miscellaneous |
| Von Recklinghausen’s disease | Neurofibromatosis type 1. Mutation of NF-1 tumor suppressor gene. | Miscellaneous |
| Caf?-au-lait skin pigmentation, Axillary (Crowe's sign) and inguinal freckles, Neurofibromas, Pheochromocytomas, Eye manifestationg (optic gliomas and pigmented hamartomas involving the iris) | Miscellaneous | |
| Mayer-Rokitansky-Kauster-Hauser (MRKH) syndrome | Agenesis of the Mullerian duct. The genetic basis is still under investigation. Congenital Mullerian abnormalities ranging from minor anomalies to total aplasia of Mullerian derivatives | Miscellaneous |
| Burger-Grutz syndrome | Lipoprotein lipase (LPL) deficiency due to a genetic mutation in the LPL gene. Classified as Fredricksen type 1 hyperlipidemia. Additional clinical features include xanthomas, lipema retinalis, hepatomegaly and pancreatitis. | Miscellaneous |
| Montgomery’s syndrome | It is also referred to as Xanthoma disseminatum (XD). Generalized xanthomas involving the skin and mucous membranes in the absence of hyperlipidemia and may be associated with diabetes insipidus | Miscellaneous |