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Clinical profile of juvenile primary hyperparathyroidism: a prospective study

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Abstract

Introduction

Juvenile primary hyperparathyroidism is uncommon and more symptomatic than the adult counterpart. The aim of this prospective monocentric study, conducted in a tertiary referral center, was to evaluate the clinical, biochemical, and densitometric data, and the outcome of a series of patients with juvenile primary hyperparathyroidism.

Material and Methods

The study group included 154 patients with sporadic and familial juvenile primary hyperparathyroidism, aged ≤40 years. Relative frequency of sporadic and familial forms, comparison of the clinical and biochemical characteristics, rate of cure after parathyroidectomy and the outcome of patients not undergoing surgery were evaluated.

Results

Familial cases (n = 42) were younger, less frequently females, and had milder disease compared to sporadic cases (n = 112). No difference was observed in biochemical and densitometric parameters. Among patients undergoing parathyroidectomy (n = 116), familial cases had a higher rate of multigland disease and a higher persistence/relapse rate compared to sporadic cases (73 vs. 3.6% and 48.1 vs. 5.7%, respectively). Patients who did not undergo parathyroidectomy had stable clinical, biochemical, and densitometric parameters during follow-up (median 27 months). Using the cut-off age of 25 years, there was no difference in clinical, biochemical and densitometric parameters between younger and older patients, with the exception of parathyroid hormone and phosphate, which were significantly lower and higher, respectively, in patients <25 years.

Conclusions

In conclusion, this prospective study shows that juvenile primary hyperparathyroidism is frequently a sporadic disease, with no difference in the biochemical phenotype between sporadic and familial forms. Patients with familial juvenile primary hyperparathyroidism have a milder clinical phenotype and higher rate of persistence/recurrence after PTx than those with sporadic juvenile primary hyperparathyroidism.

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References

  1. J.P. Bilezikian, M.L. Brandi, R. Eastell, S.J. Silverberg, R. Udelsman, C. Marcocci, J.T. Potts, Guidelines for the management of asymptomatic primary hyperparathyroidism: summary statement from the fourth international workshop. J. Clin. Endocrinol. Metab. 99, 3561–3569 (2014)

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. C. Marcocci, F. Cetani, Clinical practice. Primary hyperparathyroidism. N. Engl. J. Med. 365, 2389–2397 (2011)

    Article  CAS  PubMed  Google Scholar 

  3. N. Yu, P.T. Donnan, M.J. Murphy, G.P. Leese, Epidemiology of primary hyperparathyroidism in Tayside, Scotland, UK. Clin. Endocrinol. 71, 485–493 (2009)

    Article  Google Scholar 

  4. A. Abood, P. Vestergaard, Increasing incidence of primary hyperparathyroidism in Denmark. Dan. Med. J. 60, A4567 (2013)

    PubMed  Google Scholar 

  5. J. Roizen, M.A. Levine, Primary hyperparathyroidism in children and adolescents. J. Chin. Med. Assoc. 75, 425–434 (2012)

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. M. Allo, N.W. Thompson, J.K. Harness, R.H. Nishiyama, Primary hyperparathyroidism in children, adolescents, and young adults. World J. Surg. 6, 771–776 (1982)

    Article  CAS  PubMed  Google Scholar 

  7. C.S. Cronin, T.S. Reeve, B. Robinson, P. Clifton-Bligh, A. Guinea, L. Delbridge, Primary hyperparathyroidism in childhood and adolescence. J. Paediatr. Child Health 32, 397–399 (1996)

    Article  CAS  PubMed  Google Scholar 

  8. E. Kandil, D.S. Majid, K.A. Carson, R.P. Tufano, A comparison of outcomes for younger and older adult patients undergoing surgery for primary hyperparathyroidism. Ann. Surg. Oncol. 19, 1897–1901 (2012)

    Article  PubMed  Google Scholar 

  9. M.L. Lawson, S.F. Miller, G. Ellis, R.M. Filler, S.W. Kooh, Primary hyperparathyroidism in a paediatric hospital. QJM 89, 921–32 (1996)

    Article  CAS  PubMed  Google Scholar 

  10. K.C. Loh, Q.Y. Duh, D. Shoback, L. Gee, A. Siperstein, O.H. Clark, Clinical profile of primary hyperparathyroidism in adolescents and young adults. Clin. Endocrinol. 48, 435–443 (1998)

    Article  CAS  Google Scholar 

  11. S.C. Hsu, M.A. Levine, Primary hyperparathyroidism in children and adolescents: the Johns Hopkins Children’s Center experience 1984–2001. J Bone Miner. Res. 17(Suppl 2), N44–50 (2002)

    PubMed  Google Scholar 

  12. J. Kollars, A.E. Zarroug, J. van Heerden, A. Lteif, P. Stavlo, L. Suarez, C. Moir, M. Ishitani, D. Rodeberg, Primary hyperparathyroidism in pediatric patients. Pediatrics 115, 974–980 (2005)

    Article  PubMed  Google Scholar 

  13. E. Mallet, B. Amrein, C. Bost, D. David, F. Despert, G. Garabedian, L. Guillot, L. Lienhardt, L. Loirat, P. Nicolino, S. Simonin, T. Thieuleux, Y. Wagner, Primary hyperparathyroidism in neonates and childhood: The French experience (1984–2004). Horm. Res. 69, 180–188 (2008)

    CAS  PubMed  Google Scholar 

  14. V.N. Shah, S.K. Bhadada, A. Bhansali, A. Behera, B.R. Mittal, V. Bhavin, Influence of age and gender on presentation of symptomatic primary hyperparathyroidism. J. Postgrad. Med. 58, 107–111 (2012)

    Article  CAS  PubMed  Google Scholar 

  15. J. George, S.V. Acharya, T.R. Bandgar, P.S. Menon, N.S. Shah, Primary hyperparathyroidism in children and adolescents. Indian J. Pediatr. 77, 175–178 (2010)

    Article  PubMed  Google Scholar 

  16. E.T. Durkin, P.F. Nichol, D.P. Lund, H. Chen, R.S. Sippel, What is the optimal treatment for children with primary hyperparathyroidism? J. Pediatr. Surg. 45, 1142–1146 (2010)

    Article  PubMed  Google Scholar 

  17. J.F. Burke, K. Jacobson, A. Gosain, R.S. Sippel, H. Chen, Radioguided parathyroidectomy effective in pediatric patients. J. Surg. Res. 184, 312–317 (2013)

    Article  PubMed  PubMed Central  Google Scholar 

  18. I. Paunovic, V. Zivaljevic, R. Stojanic, N. Kalezic, M. Kazic, A. Diklic, Primary hyperparathyroidism in children and young adults: a single institution experience. Acta Chir. Belg. 113, 35–39 (2013)

    Article  CAS  PubMed  Google Scholar 

  19. J. Roizen, M.A. Levine, A meta-analysis comparing the biochemistry of primary hyperparathyroidism in youths to the biochemistry of primary hyperparathyroidism in adults. J. Clin. Endocrinol. Metab. 99, 4555–4564 (2014)

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. J.P. Bilezikian, C.S. Kovacs, The parathyroids Section II, Chapter 23, AP Editor (2015)

  21. Y.H. Chou, E.M. Brown, T. Levi, G. Crowe, A.B. Atkinson, H.J. Arnqvist, G. Toss, G.E. Fuleihan, J.G. Seidman, C.E. Seidman, The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families. Nat. Genet. 1, 295–300 (1992)

    Article  CAS  PubMed  Google Scholar 

  22. A. Szalat, S. Shpitzen, A. Tsur, I. Zalmon Koren, S. Shilo, L. Tripto-Shkolnik, R. Durst, E. Leitersdorf, V. Meiner, Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia. Endocrine 55(3), 741–747 (2017)

    Article  CAS  PubMed  Google Scholar 

  23. R.V. Thakker, P.J. Newey, G.V. Walls, J. Bilezikian, H. Dralle, P.R. Ebeling, S. Melmed, A. Sakurai, F. Tonelli, M.L. Brandi, Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J. Clin. Endocrinol. Metab. 97, 2990–3011 (2012)

    Article  CAS  PubMed  Google Scholar 

  24. F. Cetani, E. Pardi, S. Borsari, M. Tonacchera, E. Morabito, A. Pinchera, C. Marcocci, Two Italian kindreds with familial hypocalciuric hypercalcaemia caused by loss-of-function mutations in the calcium-sensing receptor (CaR) gene: functional characterization of a novel CaR missense mutation. Clin. Endocrinol. 58, 199–206 (2003)

    Article  CAS  Google Scholar 

  25. G. Viccica, F. Cetani, E. Vignali, M. Miccoli, C. Marcocci, Impact of vitamin D deficiency on the clinical and biochemical phenotype in women with sporadic primary hyperparathyroidism. Endocrine 25, (2016). doi:10.1007/s12020-016-0931-8

  26. E. Vignali, A. Picone, G. Materazzi, S. Steffe, P. Berti, L. Cianferotti, F. Cetani, E. Ambrogini, P. Miccoli, A. Pinchera, C. Marcocci, A quick intraoperative parathyroid hormone assay in the surgical management of patients with primary hyperparathyroidism: a study of 206 consecutive cases. Eur. J. Endocrinol. 146, 783–788 (2002)

    Article  CAS  PubMed  Google Scholar 

  27. E. Pardi, C. Marcocci, S. Borsari, F. Saponaro, L. Torregrossa, M. Tancredi, B. Raspini, F. Basolo, F. Cetani, Aryl hydrocarbon receptor interacting protein (AIP) mutations occur rarely in sporadic parathyroid adenomas. J. Clin. Endocrinol. Metab. 98, 2800–2810 (2013)

    Article  CAS  PubMed  Google Scholar 

  28. R.V. Thakker, Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4). Mol. Cell. Endocrinol. 386, 2–15 (2014)

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. R. Udelsman, G. Akerström, C. Biagini, Q.-Y. Duh, P. Miccoli, B. Niederle, F. Tonelli, The surgical management of asymptomatic primary hyperparathyroidism: proceedings of the fourth international workshop. J. Clin. Endocrinol. Metab. 99, 3595–3606 (2014)

    Article  CAS  PubMed  Google Scholar 

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Acknowledgements

We thank Dr. Giuseppe Viccica for his work collecting some clinical data used in this study.

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Authors and Affiliations

  1. Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

    Federica Saponaro, Claudio Marcocci, Federica Cacciatore, Mario Miccoli, Elena Pardi & Simona Borsari

  2. University Hospital of Pisa, Endocrine Unit 2, Pisa, Italy

    Claudio Marcocci & Filomena Cetani

  3. Department of Surgical, Medical and Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy

    Gabriele Materazzi & Paolo Miccoli

Authors
  1. Federica Saponaro
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  2. Claudio Marcocci
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  3. Federica Cacciatore
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  4. Mario Miccoli
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  5. Elena Pardi
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  6. Simona Borsari
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  7. Gabriele Materazzi
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  8. Paolo Miccoli
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  9. Filomena Cetani
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Correspondence to Filomena Cetani.

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The authors declare that they have no competing interests.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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Saponaro, F., Marcocci, C., Cacciatore, F. et al. Clinical profile of juvenile primary hyperparathyroidism: a prospective study. Endocrine 59, 344–352 (2018). https://doi.org/10.1007/s12020-017-1318-1

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