Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
Journal of Bone and Mineral Metabolism
Published in: Journal of Bone and Mineral Metabolism 4/2014

01-07-2014 | Review Article

Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature

Authors: Nikolaos Pontikides, Spyridon Karras, Athina Kaprara, Panagiotis Anagnostis, Gesthimani Mintziori, Dimitrios G. Goulis, Eleni Memi, Gerasimos Krassas

Published in: Journal of Bone and Mineral Metabolism | Issue 4/2014

Login to get access

Abstract

Primary hyperparathyroidism is a heterogeneous clinical entity. In the clinical setting, the diagnosis and management of familial isolated hyperparathyroidism (FIHP) and other familial hyperparathyroidism (FHPT) forms continue to rely on clinical, laboratory, and histological findings, with careful examination of the family. In this article, we report a case series of FIHP in a four-generation Greek family, with no identifiable gene mutations. Clinical approach and long-term follow-up are discussed and a narrative review of the genetic basis of this entity has been performed.
Literature
1.
Albright F (1948) A page out of the history of hyperparathyroidism. J Clin Endocrinol Metab 8:637–657PubMedCrossRef
2.
Pepe J, Cipriani C, Pilotto R, De LF, Castro C, Lenge L, Russo S, Guarnieri V, Scillitani A, Carnevale V, D’Erasmo E, Romagnoli E, Minisola S (2011) Sporadic and hereditary primary hyperparathyroidism. J Endocrinol Invest 34:40–44PubMed
3.
Miedlich S, Krohn K, Paschke R (2003) Update on genetic and clinical aspects of primary hyperparathyroidism. Clin Endocrinol (Oxf) 59:539–554CrossRef
4.
Cetani F, Pardi E, Ambrogini E, Lemmi M, Borsari S, Cianferotti L, Vignali E, Viacava P, Berti P, Mariotti S, Pinchera A, Marcocci C (2006) Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management. Clin Endocrinol (Oxf) 64:146–152CrossRef
5.
Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS et al (1997) Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 276:404–407PubMedCrossRef
6.
Agarwal SK, Guru SC, Heppner C, Erdos MR, Collins RM, Park SY, Saggar S, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ, Burns AL (1999) Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. Cell 96:143–152PubMedCrossRef
7.
Agarwal SK, Novotny EA, Crabtree JS, Weitzman JB, Yaniv M, Burns AL, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ (2003) Transcription factor JunD, deprived of menin, switches from growth suppressor to growth promoter. Proc Natl Acad Sci USA 100:10770–10775PubMedCentralPubMedCrossRef
8.
Larsson C, Skogseid B, Oberg K, Nakamura Y, Nordenskjold M (1988) Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature (Lond) 332:85–87CrossRef
9.
Bassett JH, Forbes SA, Pannett AA, Lloyd SE, Christie PT, Wooding C, Harding B, Besser GM, Edwards CR, Monson JP, Sampson J, Wass JA, Wheeler MH, Thakker RV (1998) Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am J Hum Genet 62:232–244PubMedCentralPubMedCrossRef
10.
Pannett AA, Kennedy AM, Turner JJ, Forbes SA, Cavaco BM, Bassett JH, Cianferotti L, Harding B, Shine B, Flinter F, Maidment CG, Trembath R, Thakker RV (2003) Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Clin Endocrinol (Oxf) 58:639–646CrossRef
11.
Karges W, Jostarndt K, Maier S, Flemming A, Weitz M, Wissmann A, Feldmann B, Dralle H, Wagner P, Boehm BO (2000) Multiple endocrine neoplasia type 1 (MEN1) gene mutations in a subset of patients with sporadic and familial primary hyperparathyroidism target the coding sequence but spare the promoter region. J Endocrinol 166:1–9PubMedCrossRef
12.
Trump D, Farren B, Wooding C, Pang JT, Besser GM, Buchanan KD, Edwards CR, Heath DA, Jackson CE, Jansen S, Lips K, Monson JP, O’Halloran D, Sampson J, Shalet SM, Wheeler MH, Zink A, Thakker RV (1996) Clinical studies of multiple endocrine neoplasia type 1 (MEN1). Q J Med 89:653–669CrossRef
13.
Lemmens I, Van de Ven WJ, Kas K, Zhang CX, Giraud S et al (1997) Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. Hum Mol Genet 6:1177–1183PubMedCrossRef
14.
Marx SJ (2005) Molecular genetics of multiple endocrine neoplasia types 1 and 2. Nat Rev Cancer 5:367–375PubMedCrossRef
15.
Mulligan LM, Kwok JB, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L (1993) Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature (Lond) 363:458–460CrossRef
16.
Howe JR, Norton JA, Wells SA Jr (1993) Prevalence of pheochromocytoma and hyperparathyroidism in multiple endocrine neoplasia type 2A: results of long-term follow-up. Surgery (St. Louis) 114:1070–1077
17.
Simonds WF, Robbins CM, Agarwal SK, Hendy GN, Carpten JD, Marx SJ (2004) Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism–jaw tumor syndrome. J Clin Endocrinol Metab 89:96–102PubMedCrossRef
18.
Bradley KJ, Hobbs MR, Buley ID, Carpten JD, Cavaco BM, Fares JE, Laidler P, Manek S, Robbins CM, Salti IS, Thompson NW, Jackson CE, Thakker RV (2005) Uterine tumours are a phenotypic manifestation of the hyperparathyroidism–jaw tumour syndrome. J Intern Med 257:18–26PubMedCrossRef
19.
Jackson CE, Norum RA, Boyd SB, Talpos GB, Wilson SD, Taggart RT, Mallette LE (1990) Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome. Surgery (St. Louis) 108:1006–1012
20.
Carpten JD, Robbins CM, Villablanca A, Forsberg L, Presciuttini S et al (2002) HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome. Nat Genet 32:676–680PubMedCrossRef
21.
Mosimann C, Hausmann G, Basler K (2006) Parafibromin/Hyrax activates Wnt/Wg target gene transcription by direct association with beta-catenin/Armadillo. Cell 125:327–341PubMedCrossRef
22.
Woodard GE, Lin L, Zhang JH, Agarwal SK, Marx SJ, Simonds WF (2005) Parafibromin, product of the hyperparathyroidism–jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression. Oncogene 24:1272–1276PubMedCrossRef
23.
Zhang C, Kong D, Tan MH, Pappas DL Jr, Wang PF, Chen J, Farber L, Zhang N, Koo HM, Weinreich M, Williams BO, Teh BT (2006) Parafibromin inhibits cancer cell growth and causes G1 phase arrest. Biochem Biophys Res Commun 350:17–24PubMedCrossRef
24.
Bradley KJ, Cavaco BM, Bowl MR, Harding B, Cranston T, Fratter C, Besser GM, Conceicao PM, Davie MW, Dudley N, Leite V, Sadler GP, Seller A, Thakker RV (2006) Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. Clin Endocrinol (Oxf) 64:299–306CrossRef
25.
Honda M, Tsukada T, Tanaka H, Maruyama K, Yamaguchi K, Obara T, Yamaji T, Ishibashi M (2000) A novel mutation of the MEN1 gene in a Japanese kindred with familial isolated primary hyperparathyroidism. Eur J Endocrinol 142:138–143PubMedCrossRef
26.
Huang SM, Duh QY, Shaver J, Siperstein AE, Kraimps JL, Clark OH (1997) Familial hyperparathyroidism without multiple endocrine neoplasia. World J Surg 21:22–28PubMedCrossRef
27.
Silveira LG, Dias EP, Marinho BC, Gomez RS, De ML, Sarquis MS (2008) HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? Arq Bras Endocrinol Metab 52:1211–1220CrossRef
28.
Warner J, Epstein M, Sweet A, Singh D, Burgess J, Stranks S, Hill P, Perry-Keene D, Learoyd D, Robinson B, Birdsey P, Mackenzie E, Teh BT, Prins JB, Cardinal J (2004) Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet 41:155–160PubMedCentralPubMedCrossRef
29.
Law WM Jr, Carney JA, Heath H III (1984) Parathyroid glands in familial benign hypercalcemia (familial hypocalciuric hypercalcemia). Am J Med 76:1021–1026PubMedCrossRef
30.
Marx SJ, Attie MF, Levine MA, Spiegel AM, Downs RW Jr, Lasker RD (1981) The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds. Medicine (Baltim) 60:397–412CrossRef
31.
Carling T, Szabo E, Bai M, Ridefelt P, Westin G, Gustavsson P, Trivedi S, Hellman P, Brown EM, Dahl N, Rastad J (2000) Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J Clin Endocrinol Metab 85:2042–2047PubMed
32.
Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG (1993) Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 75:1297–1303PubMedCrossRef
33.
Carmeliet G, Van CS, Daci E, Maes C, Bouillon R (2003) Disorders of calcium homeostasis. Best Pract Res Clin Endocrinol Metab 17:529–546PubMedCrossRef
34.
Simonds WF, James-Newton LA, Agarwal SK, Yang B, Skarulis MC, Hendy GN, Marx SJ (2002) Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. Medicine (Baltim) 81:1–26CrossRef
35.
Teh BT, Farnebo F, Twigg S, Hoog A, Kytola S, Korpi-Hyovalti E, Wong FK, Nordenstrom J, Grimelius L, Sandelin K, Robinson B, Farnebo LO, Larsson C (1998) Familial isolated hyperparathyroidism maps to the hyperparathyroidism–jaw tumor locus in 1q21–q32 in a subset of families. J Clin Endocrinol Metab 83:2114–2120PubMed
36.
Hannan FM, Nesbit MA, Christie PT, Fratter C, Dudley NE, Sadler GP, Thakker RV (2008) Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene. Nat Clin Pract Endocrinol Metab 4:53–58PubMedCrossRef
37.
Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P et al (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86:5658–5671PubMedCrossRef
38.
39.
40.
Streeten EA, Weinstein LS, Norton JA, Mulvihill JJ, White BJ, Friedman E, Jaffe G, Brandi ML, Stewart K, Zimering MB (1992) Studies in a kindred with parathyroid carcinoma. J Clin Endocrinol Metab 75:362–366PubMed
41.
Farnebo F, Jarhult J, Farnebo LO, Nilsson O, Teh BT, Lagercrantz J, Weber G, Sandelin K, Larsson C (1997) Multiple endocrine neoplasia type 1 and the search for the genetic trigger. Horm Res 47:179–184PubMedCrossRef
42.
Wassif WS, Farnebo F, Teh BT, Moniz CF, Li FY, Harrison JD, Peters TJ, Larsson C, Harris P (1999) Genetic studies of a family with hereditary hyperparathyroidism–jaw tumour syndrome. Clin Endocrinol (Oxf) 50:191–196CrossRef
43.
Marx SJ, Spiegel AM, Levine MA, Rizzoli RE, Lasker RD, Santora AC, Downs RW Jr, Aurbach GD (1982) Familial hypocalciuric hypercalcemia: the relation to primary parathyroid hyperplasia. N Engl J Med 307:416–426PubMedCrossRef
44.
Perrier ND, Villablanca A, Larsson C, Wong M, Ituarte P, Teh BT, Clark OH (2002) Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism. World J Surg 26:907–913PubMedCrossRef
45.
Tsukada T, Yamaguchi K, Kameya T (2001) The MEN1 gene and associated diseases: an update. Endocr Pathol 12:259–273PubMedCrossRef
46.
Sharma J, Weber CJ (2009) Surgical therapy for familial hyperparathyroidism. Am Surg 75:579–582PubMed
47.
Warner JV, Nyholt DR, Busfield F, Epstein M, Burgess J, Stranks S, Hill P, Perry-Keene D, Learoyd D, Robinson B, Teh BT, Prins JB, Cardinal JW (2006) Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3–14. J Med Genet 43:e12PubMedCentralPubMedCrossRef
48.
Carling T, Udelsman R (2005) Parathyroid surgery in familial hyperparathyroid disorders. J Intern Med 257:27–37PubMedCrossRef
49.
Evans DB, Rich TA, Cote GJ (2007) Surgical management of familial hyperparathyroidism. Ann Surg Oncol 14:1525–1527PubMedCrossRef
50.
Iacobone M, Barzon L, Porzionato A, Masi G, Macchi V, Marino F, Viel G, Favia G (2007) Parafibromin expression, single-gland involvement, and limited parathyroidectomy in familial isolated hyperparathyroidism. Surgery (St. Louis) 142:984–991CrossRef
51.
Sarquis MS, Silveira LG, Pimenta FJ, Dias EP, Teh BT, Friedman E, Gomez RS, Tavares GC, Eng C, De ML (2008) Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations. Surgery (St. Louis) 143:630–640CrossRef
52.
Guarnieri V, Scillitani A, Muscarella LA, Battista C, Bonfitto N, Bisceglia M, Minisola S, Mascia ML, D’Agruma L, Cole DE (2006) Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance. J Clin Endocrinol Metab 91:2827–2832PubMedCrossRef
53.
VanderWalde LH, Haigh PI (2006) Surgical approach to the patient with familial hyperparathyroidism. Curr Treat Options Oncol 7:326–333PubMedCrossRef
54.
Miedlich S, Lohmann T, Schneyer U, Lamesch P, Paschke R (2001) Familial isolated primary hyperparathyroidism—a multiple endocrine neoplasia type 1 variant? Eur J Endocrinol 145:155–160PubMedCrossRef
55.
56.
Villablanca A, Wassif WS, Smith T, Hoog A, Vierimaa O, Kassem M, Dwight T, Forsberg L, Du Q, Learoyd D, Jones K, Stranks S, Juhlin C, Teh BT, Carling T, Robinson B, Larsson C (2002) Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism. Eur J Endocrinol 147:313–322PubMedCrossRef
57.
Kassem M, Kruse TA, Wong FK, Larsson C, Teh BT (2000) Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree. J Clin Endocrinol Metab 85:165–167PubMed
58.
59.
Kimura T, Yoshimoto K, Tanaka C, Ohkura T, Iwahana H, Miyauchi A, Sano T, Itakura M (1996) Obvious mRNA and protein expression but absence of mutations of the RET proto-oncogene in parathyroid tumors. Eur J Endocrinol 134:314–319PubMedCrossRef
60.
Barry MK, van Heerden JA, Grant CS, Thompson GB, Khosla S (1997) Is familial hyperparathyroidism a unique disease? Surgery (St. Louis) 122:1028–1033CrossRef
61.
Agarwal SK, Kester MB, Debelenko LV, Heppner C, Emmert-Buck MR et al (1997) Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum Mol Genet 6:1169–1175PubMedCrossRef
62.
Shimizu S, Tsukada T, Futami H, Ui K, Kameya T, Kawanaka M, Uchiyama S, Aoki A, Yasuda H, Kawano S, Ito Y, Kanbe M, Obara T, Yamaguchi K (1997) Germline mutations of the MEN1 gene in Japanese kindred with multiple endocrine neoplasia type 1. Jpn J Cancer Res 88:1029–1032PubMedCrossRef
63.
Teh BT, Esapa CT, Houlston R, Grandell U, Farnebo F, Nordenskjold M, Pearce CJ, Carmichael D, Larsson C, Harris PE (1998) A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors. Am J Hum Genet 63:1544–1549PubMedCentralPubMedCrossRef
64.
Teh BT, Kytola S, Farnebo F, Bergman L, Wong FK et al (1998) Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. J Clin Endocrinol Metab 83:2621–2626PubMed
65.
Giraud S, Zhang CX, Serova-Sinilnikova O, Wautot V, Salandre J et al (1998) Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders. Am J Hum Genet 63:455–467PubMedCentralPubMedCrossRef
66.
Yoshimoto K, Endo H, Tsuyuguchi M, Tanaka C, Kimura T, Iwahana H, Kato G, Sano T, Itakura M (1998) Familial isolated primary hyperparathyroidism with parathyroid carcinomas: clinical and molecular features. Clin Endocrinol (Oxf) 48:67–72CrossRef
67.
Tanaka C, Yoshimoto K, Yamada S, Nishioka H, Ii S, Moritani M, Yamaoka T, Itakura M (1998) Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese. J Clin Endocrinol Metab 83:960–965PubMed
68.
Sato M, Matsubara S, Miyauchi A, Ohye H, Imachi H, Murao K, Takahara J (1998) Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families. J Med Genet 35:915–919PubMedCentralPubMedCrossRef
69.
Fujimori M, Shirahama S, Sakurai A, Hashizume K, Hama Y, Ito K, Shingu K, Kobayashi S, Amano J, Fukushima Y (1998) Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism. Am J Med Genet 80:221–222PubMedCrossRef
70.
Ohye H, Sato M, Matsubara S, Miyauchi A, Imachi H, Murao K, Takahara J (1998) Germline mutation of the multiple endocrine neoplasia type 1 (MEN1) gene in a family with primary hyperparathyroidism. Endocr J 45:719–723PubMedCrossRef
71.
Watanabe T, Tsukamoto F, Shimizu T, Sugimoto T, Taguchi T, Nishisho I, Nakazawa H, Shiba E, Shishiba Y, Takai S (1998) Familial isolated hyperparathyroidism caused by single adenoma: a distinct entity different from multiple endocrine neoplasia. Endocr J 45:637–646PubMedCrossRef
72.
Williamson C, Cavaco BM, Jauch A, Dixon PH, Forbes S, Harding B, Holtgreve-Grez H, Schoell B, Pereira MC, Font AP, Loureiro MM, Sobrinho LG, Santos MA, Thakker RV (1999) Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22–q31. J Bone Miner Res 14:230–239PubMedCrossRef
73.
Abe H, Tani T, Naito H, Mekata E, Sako H, Ioka J, Kodama M (1999) Familial hyperparathyroidism: report of a case. Surg Today 29:63–66PubMedCrossRef
74.
Poncin J, Abs R, Velkeniers B, Bonduelle M, Abramowicz M, Legros JJ, Verloes A, Meurisse M, Van GL, Verellen C, Koulischer L, Beckers A (1999) Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases. Hum Mutat 13:54–60PubMedCrossRef
75.
Dwarakanathan AA, Zwart S, Oathus RC (2000) Isolated familial hyperparathyroidism with a novel mutation of the MEN1 gene. Endocr Pract 6:268–270PubMedCrossRef
76.
Matsuki T, Nishiura H, Jo Y, Kinoshita H, Morioka M, Tanaka H (2000) Familial isolated hyperparathyroidism: a report of two cases. Nihon Hinyokika Gakkai Zasshi 91:33–36PubMed
77.
Bergman L, Teh B, Cardinal J, Palmer J, Walters M, Shepherd J, Cameron D, Hayward N (2000) Identification of MEN1 gene mutations in families with MEN 1 and related disorders. Br J Cancer 83:1009–1014PubMedCentralPubMedCrossRef
78.
Takami H, Shirahama S, Ikeda Y, Sasaki Y, Wada N, Niimi M, Kameyama K (2000) Familial hyperparathyroidism. Biomed Pharmacother 54(suppl 1):21s–24sCrossRef
79.
Campusano C, Oestreicher E, Arteaga E, Leon A (2001) Familial and isolated primary hyperparathyroidism. Case report. Rev Med Chil 129:1311–1314PubMed
80.
Yamashita K, Suzuki S, Yumita W, Ikeo Y, Uehara Y, Minemura K, Sakurai A, Hashizume K (2001) A case of familial isolated hyperparathyroidism with ectopic parathyroid cancer. Endocr J 48:453–458PubMedCrossRef
81.
Cetani F, Pardi E, Giovannetti A, Vignali E, Borsari S, Golia F, Cianferotti L, Viacava P, Miccoli P, Gasperi M, Pinchera A, Marcocci C (2002) Genetic analysis of the MEN1 gene and HPRT2 locus in two Italian kindreds with familial isolated hyperparathyroidism. Clin Endocrinol (Oxf) 56:457–464CrossRef
82.
Carneiro DM, Irvin GL III, Inabnet WB (2002) Limited versus radical parathyroidectomy in familial isolated primary hyperparathyroidism. Surgery (St. Louis) 132:1050–1054CrossRef
83.
Monneuse O, Causeret S, Lifante JC, Berger N, Lapras V, Peix JL (2002) Primary juvenile hyperparathyroidism. Report of 24 cases. Ann Chir 127:276–280PubMedCrossRef
84.
Park JH, Kim IJ, Kang HC, Lee SH, Shin Y, Kim KH, Lim SB, Kang SB, Lee K, Kim SY, Lee MS, Lee MK, Park JH, Moon SD, Park JG (2003) Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders. Clin Genet 64:48–53PubMedCrossRef
85.
Villablanca A, Calender A, Forsberg L, Hoog A, Cheng JD, Petillo D, Bauters C, Kahnoski K, Ebeling T, Salmela P, Richardson AL, Delbridge L, Meyrier A, Proye C, Carpten JD, Teh BT, Robinson BG, Larsson C (2004) Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). J Med Genet 41:e32PubMedCentralPubMedCrossRef
86.
Cetani F, Pardi E, Borsari S, Viacava P, Dipollina G, Cianferotti L, Ambrogini E, Gazzerro E, Colussi G, Berti P, Miccoli P, Pinchera A, Marcocci C (2004) Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors. J Clin Endocrinol Metab 89:5583–5591PubMedCrossRef
87.
Carrasco CA, Gonzalez AA, Carvajal CA, Campusano C, Oestreicher E, Arteaga E, Wohllk N, Fardella CE (2004) Novel intronic mutation of MEN1 gene causing familial isolated primary hyperparathyroidism. J Clin Endocrinol Metab 89:4124–4129PubMedCrossRef
88.
Bradley KJ, Cavaco BM, Bowl MR, Harding B, Young A, Thakker RV (2005) Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism. J Med Genet 42:e51PubMedCentralPubMedCrossRef
89.
Cardinal JW, Bergman L, Hayward N, Sweet A, Warner J, Marks L, Learoyd D, Dwight T, Robinson B, Epstein M, Smith M, Teh BT, Cameron DP, Prins JB (2005) A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing. J Med Genet 42:69–74PubMedCentralPubMedCrossRef
90.
Mizusawa N, Uchino S, Iwata T, Tsuyuguchi M, Suzuki Y et al (2006) Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism–jaw tumour syndrome. Clin Endocrinol (Oxf) 65:9–16CrossRef
91.
Kelly TG, Shattuck TM, Reyes-Mugica M, Stewart AF, Simonds WF, Udelsman R, Arnold A, Carpenter TO (2006) Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation. J Bone Miner Res 21:1666–1671PubMedCrossRef
92.
Moulin LX, Cantoni J, Baccarini NR, Correa PL, Mesquita CT, Figueiredo JG, Lima MB (2007) Familial isolated primary hyperparathyroidism—description and analyses of six cases. Arq Bras Endocrinol Metabol 51:1544–1550PubMedCrossRef
93.
Lal A, Bianco J, Chen H (2007) Radioguided parathyroidectomy in patients with familial hyperparathyroidism. Ann Surg Oncol 14:739–743PubMedCrossRef
94.
Masi G, Barzon L, Iacobone M, Viel G, Porzionato A, Macchi V, De CR, Favia G, Palu G (2008) Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. Endocr Relat Cancer 15:1115–1126PubMedCrossRef
95.
Sharma J, Weber CJ (2009) Surgical therapy for familial hyperparathyroidism. Am Surg 75:579–582PubMed
96.
Kandil E, Alabbas HH, Lum YW, Tufaro AP (2010) Familial isolated primary hyperparathyroidism with double adenoma. South Med J 103:236–238PubMedCrossRef
97.
Guarnieri V, Canaff L, Yun FH, Scillitani A, Battista C, Muscarella LA, Wong BY, Notarangelo A, D’Agruma L, Sacco M, Cole DE, Hendy GN (2010) Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years. J Clin Endocrinol Metab 95:1819–1829PubMedCrossRef
Metadata
Title
Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature
Authors
Nikolaos Pontikides
Spyridon Karras
Athina Kaprara
Panagiotis Anagnostis
Gesthimani Mintziori
Dimitrios G. Goulis
Eleni Memi
Gerasimos Krassas
Publication date
01-07-2014
Publisher
Springer Japan
Published in
Journal of Bone and Mineral Metabolism / Issue 4/2014
Print ISSN: 0914-8779
Electronic ISSN: 1435-5604
DOI
https://doi.org/10.1007/s00774-013-0551-9

Other articles of this Issue 4/2014

Journal of Bone and Mineral Metabolism 4/2014 Go to the issue

Original Article

Effects of novel cathepsin K inhibitor ONO-5334 on bone resorption markers: a study of four sustained release formulations with different pharmacokinetic patterns

Original Article

Palliative treatment of bone metastases with samarium-153 EDTMP at onset of pain

Original Article

IL-6 negatively regulates osteoblast differentiation through the SHP2/MEK2 and SHP2/Akt2 pathways in vitro

Original Article

The benefits of a high-intensity aquatic exercise program (HydrOS) for bone metabolism and bone mass of postmenopausal women

Special Report

Guidelines on the management and treatment of glucocorticoid-induced osteoporosis of the Japanese Society for Bone and Mineral Research: 2014 update

Original Article

Familial interactions and physical, lifestyle, and dietary factors to affect bone mineral density of children in the KNHANES 2009–2010
Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Reserve your place

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin
Prof. Florian Limbourg
Prof. Anoop Chauhan
Developed by: Springer Medicine
Obesity Clinical Trial Summary

At a glance: The STEP trials

Read more

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

Highlights from the ACC 2024 Congress

Year in Review: Pediatric cardiology

Pediatric Cardiology Video

Watch Dr. Anne Marie Valente present the last year's highlights in pediatric and congenital heart disease in the official ACC.24 Year in Review session.

Year in Review: Pulmonary vascular disease

Cardiopulmonary Comorbidity Video

The last year's highlights in pulmonary vascular disease are presented by Dr. Jane Leopold in this official video from ACC.24.

Year in Review: Valvular heart disease

Valvular Heart Disease Video

Watch Prof. William Zoghbi present the last year's highlights in valvular heart disease from the official ACC.24 Year in Review session.

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.

Watch now

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

16-04-2024 Type 2 Diabetes News

Incentivised to exercise

11-04-2024 Lifestyle Modifications News

New intervention for STEMI-related cardiogenic shock

10-04-2024 Myocardial Infarction News

» View more highlights on the ACC 2024 congress hub page

Image Credits