Skip to main content
SpringerLink
Log in

Familial Acromegaly: Case Report and Review of the Literature

  • Published:
Pituitary Aims and scope Submit manuscript

Abstract

Familial acromegaly is an exceptional clinical entity when not associated with features of multiple endocrine neoplasia type 1 (MEN1). We report here 3 pedigrees in each of which 2 patients have been shown to develop acromegaly. In 5/6 patients, clinical follow-up, and biological screening allowed to confidently exclude MEN1. Absence of mutation in the MEN1 gene after direct DNA analysis in 2 pedigrees reinforces the conviction that the families do not have MEN1. In families 1 and 2, diagnosis

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Koch G, Tiwisina T. Contribution to the hereditary of acromegaly and hyperostosis generalisata with pachyderma (chromophobe hypophysis adenoma in father and son). Arznemittel Furschung 1959;13:489–504.

    Google Scholar 

  2. Stevenaert A, Beckers A. Presurgical octreotide: treatment in acromegaly. Metab Clin Exp 1996;45(suppl. 1):72–74.

    Google Scholar 

  3. Teh BT, Kytölä S, Farnebo L, Bergman FK, Wong K, et al. Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type I, familial acromegaly and familial isolated hyperparathyroidism. J Clin Endocrinol Metab 1998;83: 2621–2628.

    Google Scholar 

  4. Poncin J, Abs B, Velkeniers M, Bonduelle M, Abramovicz M, et al. Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases. Human Mutation 1998;(in press)

  5. Alexander L, Appleton D, Hall R, Ross WM, Wilkinson R. Epidemiology of acromegaly in the Newcastle region. Clin Endocrinol (Oxf) 1980;12:71–79.

    Google Scholar 

  6. Bengtsson BA, Eden S, Ernest I, Oden A, Sjoegren B. Epidemiology and long-term survival in acromegaly. Acta Medica Scand 1988;223:327–335.

    Google Scholar 

  7. McCarthy MI, Noonan K, Wass JAH, Munson JP. Familial acromegaly: Studies in 3 families Clin Endocrinol (Oxf) 1990;32:719–728.

    Google Scholar 

  8. Beckers A, Courtoy R, Stevenaert A, Bonniver J, Closset J, et al. Mammosomatotropes in human pituitary adenomas as revealed by electron microscopic double gold immunostaining method. Acta Endocrinol (Copenh) 1988;118:503–512.

    Google Scholar 

  9. Herman V, Fagin J, Govsky R, Kovacs K, Melmed S. Clonal origin of pituitary adenomas. J Clin Endocrinol Metab 1990; 71:1427–1433.

    Google Scholar 

  10. Vallar L, Spada A, Giancannattasio G. Altered Gs and adenylate cyclase activity in human GH-secreting pituitary adenomas. Nature 1987;330:566–568.

    Google Scholar 

  11. Hosoi E, Yokogoshi Y, Horie H, Yamada S, Saito S. Analysis of the GS alpha gene in growth hormone-secreting pituitary adenomas by the polymerase chain reaction-direct sequencing method using paraffin-embedded tissues. Acta Endocrinol (Copenh) 1993;129:301–306.

    Google Scholar 

  12. Landis CA, Masters SB, Spada A, Pace AM, Bourne HR, et al. GTPase inhibiting mutations activate the alpha chain of of Gs and stimulate adenylate cyclase in human pituitary tumors. Nature 1989;340:692–696.

    Google Scholar 

  13. Faglia G, Arosio M, Spada A. GS protein mutations and pituitary tumors: Functional correlates and possible therapeutic implications. Metabolism 1996;45 (suppl.1):117–119.

    Google Scholar 

  14. Lania A, Persani L, Ballare E, Mantovani S, Losa M, et al. Constitutively active Gs alpha is associated with an increased phosphodiesterase activity in human growth hormone-secreting adenomas. J Clin Endocrinol Metab 1998; 85:1624–1628.

    Google Scholar 

  15. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, et al. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. New Engl J Med 1991;325:1738–1740.

    Google Scholar 

  16. Croizier JC, Azerad E, Lubetski J. L'adénomatose polyendocrinienne (syndrome deWermer): a propos d'une observation personnelle. Revue de la littérature. Sem Hô p Paris 1971;47:494–525.

    Google Scholar 

  17. Eberle F, Grün R. Multiple endocrine neoplasia, type 1. Ergebn Inn Med Kinderheilk (Berlin) 1981;46:75–142.

    Google Scholar 

  18. Benson L, Ljunghall S, Akerström G, Öberg K. Hyperparathyroidism presenting as the first lesion in multiple endocrine neoplasia type 1. Am J Med 1987;82:731–737.

    Google Scholar 

  19. Samaan NA, Ouais S, Ordonez NG, Choksi UA, Sellin RV, et al. Multiple endocrine syndrome type 1. Clinical, laboratory findings and management in five families. Cancer 1989;84: 741–752.

    Google Scholar 

  20. Tateishi A, Wada A, Ishiguro S, Ehara M, Sakamoto H, et al. Coexistence of bilateral pheochromocytoma and pancreatic islet cell tumor: report of a case and review of the literature. Cancer 1978;42:2928–2934.

    Google Scholar 

  21. Lemmens I, Van de Ven WJ, Kas K, Zhang CX, Giraud S, et al. Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. Hum Mol Genet 1997;6:1177–1183.

    Google Scholar 

  22. Agarwal SK, Kester MB, Debelenko LV, Heppner C, Emmert-Buck MR, et al. Germline mutations of theMEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum Mol Genet 1997;6:1169–1175.

    Google Scholar 

  23. Bassett JH, Forbes SA, Pannett AA, Lloyd SE, Christie PT, et al. Characterization ofmutations in patients with multiple endocrine neoplasia type 1. Am J Hum Genet 1998;62:232-244.

    Google Scholar 

  24. Giraud S, Zhang CX, Serova-Sinilnikova O, Wautot V, Salandre J, et al. Germ-Line Mutation Analysis in Patients with Multiple Endocrine Neoplasia Type 1 and Related Disorders. Am J Hum Genet 1998;63:455–467.

    Google Scholar 

  25. Hosoi E, Yokogoshi Y, Yokoi K, Sano T, Saito S. A pituitary-specific point mutation of codon 201 of the GSalpha genein a pituitary adenoma of a patient with multiple endocrine neoplasia (MEN) type 1. Endocrinol Jpn 1992;39:319–324.

    Google Scholar 

  26. O'Halloran DJ, Shalet SM. A family pedigree exhibiting features of both multiple endocrine neoplasia type 1 and McCune-Albright syndromes. J Clin Endocrinol Metab 1994;78:523–525.

    Google Scholar 

  27. Carney JA, Gordon H, Carpenter PCSBV, Go VLW. The complex of myxomas, spotty pigmentation and endocrine overactivity. Medicine 1985;64:270–283.

    Google Scholar 

  28. Levin SR, Hofeldt PD, Becker N, Wilson CB, Seymour R, et al. Hypersomatotropism and acanthosis nigricans in 2 brothers. Arch Intern Med 1974;1974:355–357.

    Google Scholar 

  29. Jones MK, Evans PJ, Jones IR, Thomas TS. Familial acromegaly. Clin Endocrinol (Oxf) 1984;20:355–358.

    Google Scholar 

  30. Himuro H, Kobayashi EKH, Jimbo M, Kitazawa M. Pituitary adenomas in two members of a family. Neurol Surg 1976;4:371–377.

    Google Scholar 

  31. Kurisaka M, Takei Y, Tsubokawa T, Moriyasu N. Growth hormone-secreting pituitary adenoma in uniovular twin brothers. Case report. Neurosurgery 1981;8:226–230.

    Google Scholar 

  32. Abbassioun K, Fatourehchi V, Amirjamshidi A, Meibodi NA. Familial acromegaly with pituitary adenoma: report of 3 affected siblings. J Neurosurg 1986;64:510–512.

    Google Scholar 

  33. Yuasa H, Tokito S, Nakagaki H, Kitazawa M. Familial pituitary adenoma, report of four cases from two unrelated families (in Japanese, with English abstract). Neurol Med Chir (Tokyo) 1990;30:1016–1019.

    Google Scholar 

  34. Pestell RG, Alford FP, Best JD. Familial acromegaly. Acta Endocrinol (Copenh) 1989;121:286–289.

    Google Scholar 

  35. Tamburrano G, Jaffrain-Rea ML, Grossi A, Lise A, Bulletta C. L'acromégalie familiale: a propos d'une observation. Revue de la litterature. Ann Endocrinol (Paris) 1992;53:201-207.

    Google Scholar 

  36. Links TP, Monkelban JF, Dullaart RPF, van Haeften TW. Growth hormone-, alpha-subunit and thyrotrophin-cosecreting pituitary adenoma in familial setting of pituitary tumor. Acta Endocrinol (Copenh) 1993;129:516–518.

    Google Scholar 

  37. Matsuno A, Teramoto A, Yamada S, Kitanaka T, et al. Gigantism in siblings unrelated to multiple endocrine neoplasia: case report. Neurosurgery 1994;35:952–955.

    Google Scholar 

  38. Benlian P, Giraud S, Lahlou N, Roger M, Blin C, et al. Familial acromegaly: Aspecific clinical entity- Further evidence from the genetic study of a three-generation family. Eur J Endocrinol 1995;133:451–456.

    Google Scholar 

  39. Stock JL, Warth MR, Teh BT, Coderre JA, Overdorf JH, et al. A kindred with a variant of multiple endocrine neoplasia type 1 demonstrating frequent expression of pituitary tumors but not linked to the multiple endocrine neoplasia type 1 locus at chromosome region 11q13. J Clin Endocrinol Metab 1997;82:486–492.

    Google Scholar 

  40. Chedid A, Hoversi, Chefiec, McCune SA, Jurin RR, et al. Hereditary pituitary proclamation: A new rat mode. Acta Endocrinol (Copenh) 1988;119:535–542.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Wallonia Centre for human Genetics, Liège University, Sart Tilman University Hospital, Liège, Belgium

    Alain Verloes

  2. Department of Neurosurgery and Department of Molecular Medecine, Karolinska hospital, Stockholm, Sweden

    Achille Stevenaert

  3. Department of Endocrinology, Sart Tilman University Hospital, Liège, Belgium

    Patrick Petrossians & Albert Beckers

Authors
  1. Alain Verloes
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Achille Stevenaert
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Bin Tean Teh
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Patrick Petrossians
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Albert Beckers
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Verloes, A., Stevenaert, A., Teh, B.T. et al. Familial Acromegaly: Case Report and Review of the Literature. Pituitary 1, 273–277 (1999). https://doi.org/10.1023/A:1009958510378

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/A:1009958510378

Search

Navigation