Skip to main content
SpringerLink
Log in

Eponymous Terms and Selected Historical Figures in Endocrinology

  • Chapter
  • First Online:
Endocrine Pathophysiology

  • 648 Accesses

Abstract

Readers will be introduced to a collection of eponymous terms in clinical endocrinology. The clinical features of more common eponyms like Cushing’s disease, Paget’s disease, and Addison’s disease and even less known eponyms such as Refetoff and Montgomery’s syndromes are reviewed. Interesting facts about selected historical figures in endocrinology are highlighted as well.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
eBook
USD 16.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 99.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Barrett TG, Bundey SE. Wolfram (DIDMOAD) syndrome. J Med Genet. 1997;34:838–41.

    CAS  PubMed  PubMed Central  Google Scholar 

  2. Urano F. Wolfram syndrome: diagnosis, management, and treatment. Curr Diab Rep. 2016;16:6.

    PubMed  PubMed Central  Google Scholar 

  3. Kobayashi M, Tojo A. Langerhans cell histiocytosis in adults: advances in pathophysiology and treatment. Cancer Sci. 2018;109:3707–13.

    CAS  PubMed  PubMed Central  Google Scholar 

  4. Simko SJ, Garmezy B, Abhyankar H, et al. Differentiating skin-limited and multisystem Langerhans cell histiocytosis. J Pediatr. 2014;165:990–6.

    CAS  PubMed  PubMed Central  Google Scholar 

  5. Haupt R, Minkov M, Astigarraga I, et al. Langerhans cell histiocytosis (LCH): guidelines for diagnosis, clinical work-up, and treatment for patients till the age of 18 years. Pediatr Blood Cancer. 2013;60:175–84.

    PubMed  Google Scholar 

  6. Jezierska M, Stefanowicz J, Romanowicz G, Kosiak W, Lange M. Langerhans cell histiocytosis in children – a disease with many faces. Recent advances in pathogenesis, diagnostic examinations and treatment. Postepy Dermatol Alergol. 2018;35:6–17.

    PubMed  PubMed Central  Google Scholar 

  7. Barber TM, Adams E, JAH W. Nelson syndrome: definition and management. Handb Clin Neurol. 2014;124:327–37.

    CAS  PubMed  Google Scholar 

  8. Castinetti F, Morange I, Conte-Devolx B, Brue T. Cushing’s disease. Orphanet J Rare Dis. 2012;7:41.

    PubMed  PubMed Central  Google Scholar 

  9. Kilicli F, Dokmetas HS, Acibucu F. Sheehan’s syndrome. Gynecol Endocrinol. 2013;29:292–5.

    CAS  PubMed  Google Scholar 

  10. Rosenberg B, Rosenthal J, Beck GJ. Simmonds’ disease; case reports. Am J Med. 1948;5:462–9.

    CAS  PubMed  Google Scholar 

  11. Beare JM. Simmonds’ disease. Ulster Med J. 1947;16:66–42.10.

    CAS  PubMed  PubMed Central  Google Scholar 

  12. Wémeau J-L, Kopp P. Pendred syndrome. Best Pract Res Clin Endocrinol Metab. 2017;31:213–24.

    PubMed  Google Scholar 

  13. Bizhanova A, Kopp P. Genetics and phenomics of Pendred syndrome. Mol Cell Endocrinol. 2010;322:83–90.

    CAS  PubMed  Google Scholar 

  14. Smith N, U-King-Im J-M, Karalliedde J. Delayed diagnosis of Pendred syndrome. BMJ Case Rep. 2016;2016:bcr2016215271.

    PubMed  PubMed Central  Google Scholar 

  15. Rajabian A, Walsh M, Quraishi NA. Berry’s ligament and the inferior thyroid artery as reliable anatomical landmarks for the recurrent laryngeal nerve (RLN): a fresh-cadaveric study of the cervical spine. The RLN relevant to spine. Spine J. 2017;17:S33–9.

    PubMed  Google Scholar 

  16. Akudu LS, Ukoha UU, Ekezie J, Ukoha CC. Ultrasonographic study of the incidence of pyramidal lobe and agenesis of the thyroid isthmus in Nnewi population. J Ultrason. 2018;18:290–5.

    PubMed  PubMed Central  Google Scholar 

  17. Won H-J, Won H-S, Kwak D-S, Jang J, Jung S-L, Kim I-B. Zuckerkandl tubercle of the thyroid gland: correlations between findings of anatomic dissections and CT imaging. AJNR Am J Neuroradiol. 2017;38:1416–20.

    PubMed  PubMed Central  Google Scholar 

  18. Kamparoudi P, Paliouras D, Gogakos AS, et al. Percutaneous tracheostomy—beware of the thyroidea-ima artery. Ann Transl Med. 2016;4:449.

    PubMed  PubMed Central  Google Scholar 

  19. Dave A, Ludlow J, Malaty J. Thyrotoxicosis: an under-recognised aetiology. BMJ Case Rep. 2015;2015:bcr2014208119.

    PubMed  PubMed Central  Google Scholar 

  20. De Leo S, Braverman LE. Iodine-induced thyroid dysfunction. In: Luster M, Duntas LH, Wartofsky L, editors. The thyroid and its diseases: a comprehensive guide for the clinician. Cham: Springer International Publishing; 2019. p. 435–52.

    Google Scholar 

  21. Chung HR. Iodine and thyroid function. Ann Pediatr Endocrinol Metab. 2014;19:8–12.

    PubMed  PubMed Central  Google Scholar 

  22. Dunne P, Kaimal N, MacDonald J, Syed AA. Iodinated contrast–induced thyrotoxicosis. CMAJ. 2013;185:144–7.

    PubMed  PubMed Central  Google Scholar 

  23. Porterfield JR, Thompson GB, Farley DR, Grant CS, Richards ML. Evidence-based management of toxic multinodular goiter (Plummer’s disease). World J Surg. 2008;32:1278–84.

    PubMed  Google Scholar 

  24. Ngalob QG, Isip-Tan IT. Thyroid cancer in Plummer’s disease. BMJ Case Rep. 2013;2013:bcr2013008909.

    PubMed  PubMed Central  Google Scholar 

  25. Ranganath R, Shaha MA, Xu B, Migliacci J, Ghossein R, Shaha AR. de Quervain’s thyroiditis: a review of experience with surgery. Am J Otolaryngol. 2016;37:534–7.

    PubMed  PubMed Central  Google Scholar 

  26. Zaletel K, Gaberšček S. Hashimoto’s thyroiditis: from genes to the disease. Curr Genomics. 2011;12:576–88.

    CAS  PubMed  PubMed Central  Google Scholar 

  27. Hennessey JV. Clinical review: Riedel’s thyroiditis: a clinical review. J Clin Endocrinol Metab. 2011;96:3031–41.

    CAS  PubMed  Google Scholar 

  28. Ng SA, Corcuera-Solano I, Gurudutt VV, Som PM. A rare case of Reidel thyroiditis with associated vocal cord paralysis: CT and MR imaging features. AJNR Am J Neuroradiol. 2011;32:E201–2.

    CAS  PubMed  PubMed Central  Google Scholar 

  29. Leung AM, Braverman LE. Consequences of excess iodine. Nat Rev Endocrinol. 2014;10:136–42.

    CAS  PubMed  Google Scholar 

  30. Okamura K, Sato K, Fujikawa M, Bandai S, Ikenoue H, Kitazono T. Remission after potassium iodide therapy in patients with graves’ hyperthyroidism exhibiting thionamide-associated side effects. J Clin Endocrinol Metab. 2014;99:3995–4002.

    CAS  PubMed  Google Scholar 

  31. Pramyothin P, Leung AM, Pearce EN, Malabanan AO, Braverman LE. Clinical problem-solving. A hidden solution. N Engl J Med. 2011;365:2123–7.

    CAS  PubMed  PubMed Central  Google Scholar 

  32. Alberto G, Novi RF, Scalabrino E, Trombetta A, Seardo MA, Maurino M, Brossa C. Atrial fibrillation and mitral prolapse in a subject affected by Refetoff syndrome. Minerva Cardioangiol. 2002;50:157–60.

    CAS  PubMed  Google Scholar 

  33. Nabhan ZM, Kreher NC, Eugster EA. Hashitoxicosis in children: clinical features and natural history. J Pediatr. 2005;146:533–6.

    PubMed  Google Scholar 

  34. Szarek E, Ball ER, Imperiale A, et al. Carney Triad, SDH-deficient tumors, and Sdhb+/− mice share abnormal mitochondria. Endocr Relat Cancer. 2015;22:345–52.

    CAS  PubMed  PubMed Central  Google Scholar 

  35. Settas N, Faucz FR, Stratakis CA. Succinate dehydrogenase (SDH) deficiency, carney triad and the epigenome. Mol Cell Endocrinol. 2018;469:107–11.

    CAS  PubMed  Google Scholar 

  36. de Freitas MRG, Orsini M, et al. Allgrove syndrome and motor neuron disease. Neurol Int. 2018;10(2):7436. https://doi.org/10.4081/ni.2018.7436.

    Article  PubMed  PubMed Central  Google Scholar 

  37. Brown B, Agdere L, Muntean C, David K. Alacrima as a harbinger of adrenal insufficiency in a child with Allgrove (AAA) syndrome. Am J Case Rep. 2016;17:703–6.

    PubMed  PubMed Central  Google Scholar 

  38. Li W, Gong C, Qi Z, Wu D, Cao B. Identification of AAAS gene mutation in Allgrove syndrome: a report of three cases. Exp Ther Med. 2015;10:1277–82.

    CAS  PubMed  PubMed Central  Google Scholar 

  39. Bornstein SR, Allolio B, Arlt W, et al. Diagnosis and treatment of primary adrenal insufficiency: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2016;101:364–89.

    CAS  PubMed  Google Scholar 

  40. Burton C, Cottrell E, Edwards J. Addison’s disease: identification and management in primary care. Br J Gen Pract. 2015;65:488–90.

    PubMed  PubMed Central  Google Scholar 

  41. Funder JW, Carey RM, Mantero F, Murad MH, Reincke M, Shibata H, Stowasser M, Young WF. The management of primary aldosteronism: case detection, diagnosis, and treatment: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2016;101:1889–916.

    CAS  PubMed  Google Scholar 

  42. Dittmar M, Kahaly GJ. Polyglandular autoimmune syndromes: immunogenetics and long-term follow-up. J Clin Endocrinol Metab. 2003;88:2983–92.

    CAS  PubMed  Google Scholar 

  43. Carpenter CC, Solomon N, Silverberg SG, Bledsoe T, Northcutt RC, Klinenberg JR, Bennett IL, Harvey AM. Schmidt’s syndrome (thyroid and adrenal insufficiency). A review of the literature and a report of fifteen new cases including ten instances of coexistent diabetes mellitus. Medicine (Baltimore). 1964;43:153–80.

    CAS  Google Scholar 

  44. Lacroix A, Feelders RA, Stratakis CA, Nieman LK. Cushing’s syndrome. Lancet. 2015;386:913–27.

    CAS  PubMed  Google Scholar 

  45. Pappachan JM, Hariman C, Edavalath M, Waldron J, Hanna FW. Cushing’s syndrome: a practical approach to diagnosis and differential diagnoses. J Clin Pathol. 2017;70:350–9.

    CAS  PubMed  Google Scholar 

  46. Kra SJ, Barile AW. Addison’s disease and Addisonian Anemia: a case report. Arch Intern Med. 1964;114:258–62.

    CAS  PubMed  Google Scholar 

  47. Correa R, Salpea P, Stratakis CA. Carney complex: an update. Eur J Endocrinol. 2015;173:M85–97.

    CAS  PubMed  PubMed Central  Google Scholar 

  48. Gallo de Moraes A, Surani S. Effects of diabetic ketoacidosis in the respiratory system. World J Diabetes. 2019;10:16–22.

    PubMed  PubMed Central  Google Scholar 

  49. Seth P, Kaur H, Kaur M. Clinical profile of diabetic ketoacidosis: a prospective study in a tertiary care hospital. J Clin Diagn Res. 2015;9:OC01–4.

    PubMed  PubMed Central  Google Scholar 

  50. Pain AR, Pomroy J, Benjamin A. Hamman’s syndrome in diabetic ketoacidosis. Endocrinol Diabetes Metab Case Rep. 2017;1(1):1–4. https://doi.org/10.1530/EDM-17-0135.

    Article  Google Scholar 

  51. Høi-Hansen T, Pedersen-Bjergaard U, Thorsteinsson B. The Somogyi phenomenon revisited using continuous glucose monitoring in daily life. Diabetologia. 2005;48:2437–8.

    PubMed  Google Scholar 

  52. Rybicka M, Krysiak R, Okopień B. The dawn phenomenon and the Somogyi effect - two phenomena of morning hyperglycaemia. Endokrynol Pol. 2011;62:276–84.

    PubMed  Google Scholar 

  53. Vandersteen PR, Scheithauer BW. Glucagonoma syndrome. J Am Acad Dermatol. 1985;12:1032–9.

    CAS  PubMed  Google Scholar 

  54. Kong M-F, Lawden M, Dennison A. Altered mental state and the Whipple triad. BMJ Case Rep. 2010; https://doi.org/10.1136/bcr.08.2009.2158.

  55. Epelboym I, Mazeh H. Zollinger-Ellison syndrome: classical considerations and current controversies. Oncologist. 2014;19:44–50.

    PubMed  Google Scholar 

  56. Singh Ospina N, Donegan D, Rodriguez-Gutierrez R, Al-Hilli Z, Young WF. Assessing for multiple endocrine neoplasia type 1 in patients evaluated for Zollinger-Ellison syndrome-clues to a safer diagnostic process. Am J Med. 2017;130:603–5.

    PubMed  Google Scholar 

  57. Belei OA, Heredea ER, Boeriu E, Marcovici TM, Cerbu S, Mărginean O, Iacob ER, Iacob D, Motoc AGM, Boia ES. Verner-Morrison syndrome. Literature review. Romanian J Morphol Embryol. 2017;58:371–6.

    Google Scholar 

  58. Cleiren E, Bénichou O, Van Hul E, et al. Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet. 2001;10:2861–7.

    CAS  PubMed  Google Scholar 

  59. Sobacchi C, Schulz A, Coxon FP, Villa A, Helfrich MH. Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol. 2013;9:522–36.

    CAS  PubMed  Google Scholar 

  60. Stark Z, Savarirayan R. Osteopetrosis. Orphanet J Rare Dis. 2009;4:5.

    PubMed  PubMed Central  Google Scholar 

  61. Salpea P, Stratakis CA. Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics. Mol Cell Endocrinol. 2014;386:85–91.

    CAS  PubMed  Google Scholar 

  62. Rolla AR, Rodriguez-Gutierrez R. Albright’s hereditary osteodystrophy. N Engl J Med. 2012;367:2527.

    CAS  PubMed  Google Scholar 

  63. Vaishya R, Agarwal AK, Singh H, Vijay V. Multiple “Brown tumors” masquerading as metastatic bone disease. Cureus. 2015;7:e431.

    PubMed  PubMed Central  Google Scholar 

  64. Mallette LE. Anemia in hypercalcemic hyperparathyroidism: renewed interest in an old observation. Arch Intern Med. 1977;137:572–3.

    CAS  PubMed  Google Scholar 

  65. Baskaran LNGM, Greco PJ, Kaelber DC. Case report medical eponyms. Appl Clin Inform. 2012;3:349–55.

    PubMed  PubMed Central  Google Scholar 

  66. McDonald-McGinn DM, Sullivan KE, Marino B, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015;1:15071.

    PubMed  PubMed Central  Google Scholar 

  67. Kurzrock R, Cohen PR. Polycystic ovary syndrome in men: Stein-Leventhal syndrome revisited. Med Hypotheses. 2007;68:480–3.

    PubMed  Google Scholar 

  68. Maher ER, Neumann HP, Richard S. von Hippel–Lindau disease: a clinical and scientific review. Eur J Hum Genet. 2011;19:617–23.

    CAS  PubMed  PubMed Central  Google Scholar 

  69. Ghalayani P, Saberi Z, Sardari F. Neurofibromatosis type I (von Recklinghausen’s disease): a family case report and literature review. Dent Res J (Isfahan). 2012;9:483–8.

    Google Scholar 

  70. Fontana L, Gentilin B, Fedele L, Gervasini C, Miozzo M. Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Clin Genet. 2017;91:233–46.

    CAS  PubMed  Google Scholar 

  71. Viljoen A, Wierzbicki AS. Diagnosis and treatment of severe hypertriglyceridemia. Expert Rev Cardiovasc Ther. 2012;10:505–14.

    CAS  PubMed  Google Scholar 

  72. Banerjee M, Sharma P, Gaur N, Takkar B. Infiltrative chiasmatopathy in xanthoma disseminatum: a rare entity. BMJ Case Rep. 2018;11:e227207.

    PubMed  PubMed Central  Google Scholar 

  73. Beurey J, Lamaze B, Weber M, Delrous JL, Kremer B, Chaulieu Y. Xanthoma disseminatum (Montgomery’s syndrome) (author’s transl). Ann Dermatol Venereol. 1979;106:353–9.

    CAS  PubMed  Google Scholar 

  74. Perrins RJ. Harvey cushing: a life in surgery. Soc Hist Med. 2006;19:576–8.

    Google Scholar 

  75. Loriaux DL. Harvey Williams Cushing (1869–1939). In: A biographical history of endocrinology. D.L. Loriaux (Ed.). Wiley; 2016. p. 202–6. https://doi.org/10.1002/9781119205791.ch48.

  76. Loriaux DL. Hakaru Hashimoto (1881–1934). In: A biographical history of endocrinology. D.L. Loriaux (Ed.). Wiley; 2016. p. 269–73. https://doi.org/10.1002/9781119205791.ch61.

  77. Graham A, McCullagh EP. Atrophy and fibrosis associated with lymphoid tissue in the thyroid: struma lymphomatosa (Hashimoto). Arch Surg. 1931;22:548–67.

    Google Scholar 

  78. Sawin CT. Hakaru Hashimoto (1881–1934) and his disease. Endocrinologist. 2001;11:73–6.

    Google Scholar 

  79. Volpé R. The life of Dr. Hakaru Hashimoto. Autoimmunity. 1989;3:243–5.

    Google Scholar 

  80. Pearce JMS. Thomas Addison (1793-1860). J R Soc Med. 2004;97:297–300.

    CAS  PubMed  PubMed Central  Google Scholar 

  81. Jay V. Thomas addison. Arch Pathol Lab Med. 1999;123:190.

    Google Scholar 

  82. Manring MM, Calhoun JH. Biographical sketch: Fuller Albright, MD 1900–1969. Clin Orthop Relat Res. 2011;469:2092–5.

    CAS  PubMed  PubMed Central  Google Scholar 

  83. Fajans SS. Jerome W. Conn, 1907–1994. Ann Intern Med. 1994;121:901.

    Google Scholar 

  84. Christakis I, Livesey JA, Sadler GP, Mihai R. Laparoscopic Adrenalectomy for Conn’s syndrome is beneficial to patients and is cost effective in England. J Investig Surg. 2018;31:300–6.

    Google Scholar 

  85. Loriaux D. Jerome W. Conn (1907–1994). Endocrinologist. 2008;18:159–60.

    Google Scholar 

  86. Tan SY, Merchant J. Frederick Banting (1891–1941): discoverer of insulin. Singap Med J. 2017;58:2–3.

    Google Scholar 

  87. Bliss M. “Texts and documents”: Banting’s, Best’s, and Collip’s accounts of the discovery of insulin. Bull History Med. 1982;56:554.

    CAS  Google Scholar 

  88. Jay V. Dr Robert James Graves. Arch Pathol Lab Med. 1999;123:284.

    CAS  PubMed  Google Scholar 

  89. Shampo MA, Kyle RA. Edward C. Kendall—Nobel Laureate. Mayo Clin Proc. 2001;76:1188.

    CAS  PubMed  Google Scholar 

  90. Freixa M, Simões AF, Rodrigues JB, Úria S, da Silva GN. Occam’s razor versus Hickam’s dictum: two very rare tumours in one single patient. Oxf Med Case Rep. 2019;2019(5):omz029. https://doi.org/10.1093/omcr/omz029.

    Article  Google Scholar 

  91. Wilkinson ST, Grunwald MR, Paik JJ, Ostrow LW, Gelber AC. Hickam’s dictum and the rare convergence of antisynthetase syndrome and hemoglobin SC disease. QJM. 2015;108:735–7.

    CAS  PubMed  Google Scholar 

  92. Neiman ES, Farheen A, Gadallah N, Steineke T, Parsells P, Kizelnik ZA, Rosenberg M. An unusual presentation of Creutzfeldt-Jakob disease and an example of how Hickam’s dictum and Ockham’s razor can both be right. Neurodiagn J. 2017;57:234–9.

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Endocrinology, Diabetes and Metabolism, Penn State Milton S. Hershey Medical Center, Hershey, PA, USA

    Andrea Manni

  2. Sanford Health Clinic, Bemidji, MN, USA

    Akuffo Quarde

Authors
  1. Andrea Manni
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Akuffo Quarde
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Andrea Manni .

Rights and permissions

Reprints and permissions

Copyright information

© 2020 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Manni, A., Quarde, A. (2020). Eponymous Terms and Selected Historical Figures in Endocrinology. In: Endocrine Pathophysiology. Springer, Cham. https://doi.org/10.1007/978-3-030-49872-6_8

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-49872-6_8

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-49871-9

  • Online ISBN: 978-3-030-49872-6

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation