Medical Eponyms

 A detailed list of eponyms in endocrinology and diabetes care (hormone science)

Nelson’s syndromeThe 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 diseasePituitary ACTH dependent Cushing’s syndrome.Pituitary
Sheehan’s syndromeHypopituitarism in the setting of postpartum hemorrhage.Pituitary
Simmonds’ diseaseGeneralized 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 DIDMOADPituitary
Histiocytosis Xlymphadenopathy, cerebellar ataxia, tachypnea, and dehydration ( due to central diabetes insipidus)Pituitary
Jod-Basedow syndromeIodine-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 diseaseToxic multinodular goiterThyroid
de Quervain’s thyroiditisSubacute granulomatous thyroiditis.Thyroid
Hashimoto’s thyroiditisChronic inflammatory infiltration of the thyroid associated with progressive fibrosis of the thyroid parenchyma.Thyroid
Riedel’s thyroiditisA 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 effectA 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 SyndromeA 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
HashitoxicosisAn initial transient hyperthyroid phase of Hashimoto’s thyroiditis.Thyroid
Pendred’s syndromesensorineural hearing loss (SNHL), goiter, and hypothyroidismThyroid
Addison’s diseasePrimary adrenal insufficiency characterized by glucocorticoid, androgen, and mineralocorticoid deficiency.Adrenal
Conn’s syndromePrimary hyperaldosteronism with adrenal adenoma(s) Adrenal
Schmidt’s syndromeAddison’s disease associated with autoimmune thyroid disease in patients with polyglandular autoimmune syndrome type 2.Adrenal
Carpenter’s syndromeSchmidt’s syndrome with associated type 1 diabetes mellitus in patients with polyglandular autoimmune syndrome type 2. Adrenal
Cushing’s syndromeHypercortisolemia 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 anemiaPernicious anemia in the setting of Addison’s diseaseAdrenal
Carney complexA 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 syndromegastric 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 triadIt 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 syndromeAllgrove 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 SyndromeMultiple Endocrine Neoplasia type 1 (Pancreatic tumors, parathyroid tumors, pituitary tumors, adrenal cortical tumors, and schwannomas) Pancreas
Whipple’s triadA triad of hypoglycemic symptoms, biochemically confirmed hypoglycemia, and reversal of hypoglycemic symptomatology after correction of hypoglycemia.Pancreas
Zollinger-Ellison syndromeHypergastrinemia 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 syndromeSyndrome of chronic watery diarrhea, hypokalemia, and achlorhydria (WDHA syndrome) occurs in patients with vasoactive intestinal peptide-secreting pancreatic neuroendocrine tumors.Pancreas
Kussmaul’s breathingPatients 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 examinationPancreas
Somogyi effectThe 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 1959Pancreas
Albright’s Hereditary OsteodystrophyShortened fourth metacarpals or metatarsals in the setting of pseudohypoparathyroidism or pseudopseudohypoparathyroidism.Parathyroid
Von Recklinghausen’s disease of boneOsteitis fibrosa cystica with the formation of brown tumors.Parathyroid
Albright’s anemiaAssociation of primary hyperparathyroidism with anemia.Parathyroid
DiGeorge’s syndrome Hypoparathyroidism, congenital heart disease, and a poorly developed thymus.Parathyroid
Sipple’s syndromeMultiple Endocrine Neoplasia Type 2a (Medullary thyroid cancer, pheochromocytomas, and parathyroid hyperplasia or adenomas) Parathyroid
Albers-Schӧnberg diseaseAutosomal 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 osteoarthritisParathyroid
McCune Albright syndromeMcCune Albright syndrome is characterized by fibrous dysplasia of bone, sexual precocity, and characteristic macular lesions called “café-au-lait” skin pigmentationParathyroid
Stein Leventhal SyndromePolycystic Ovarian SyndromeMiscellaneous
Von Hippel Lindau syndromeGermline mutation in the VHL tumor suppressor gene.Miscellaneous
Von Recklinghausen’s diseaseNeurofibromatosis 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) syndromeAgenesis 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 syndromeLipoprotein 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 syndromeIt 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 insipidusMiscellaneous