Skip to main content
Top
Published in: Endocrine 3/2018

01-12-2018 | Research Letter

Autoimmune pituitary involvement in Prader–Willi syndrome: new perspective for further research

Authors: Graziano Grugni, Antonino Crinò, Annamaria De Bellis, Alessio Convertino, Sarah Bocchini, Sabrina Maestrini, Paolo Cirillo, Silvana De Lucia, Maurizio Delvecchio, on behalf of the Italian Autoimmune Hypophysitis Network Study and of the Genetic Obesity Study Group of the Italian Society of Pediatric Endocrinologyand Diabetology (ISPED)

Published in: Endocrine | Issue 3/2018

Login to get access

Abstract

The role of antipituitary antibodies in the pathophysiology of pituitary hormone deficiency has been increasingly elucidated over the last decade. Prader-Willi syndrome is a genetic disorder which includes hypothalamic/pituitary dysfunction as one of its main features. We looked for autoimmune pituitary involvement in 55 adults with Prader-Willi syndrome, discovering that about 30% of them have a positive titer of antipituitary antibodies. Although the presence of these autoantibodies could only be an “epiphenomenon”, our results suggest that autoimmune mechanisms might contribute, at least in part, to the pituitary impairment of Prader-Willi syndrome, and in addition to genetically determined dysfunction of the central nervous system. This paper provides a new perspective on pituitary impairment in these patients, suggesting that the search for hypophisitis could be a reasonable and interesting field for further research.
Literature
1.
go back to reference S.B. Cassidy, S. Schwartz, J.L. Miller, D.J. Driscoll, Prader-Willi syndrome. Genet. Med. 14(1), 10–26 (2012)PubMedCrossRef S.B. Cassidy, S. Schwartz, J.L. Miller, D.J. Driscoll, Prader-Willi syndrome. Genet. Med. 14(1), 10–26 (2012)PubMedCrossRef
3.
go back to reference M.A. Angulo, M.G. Butler, M.E. Cataletto, Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J. Endocrinol. Invest. 38(12), 1249–1263 (2015)PubMedPubMedCentralCrossRef M.A. Angulo, M.G. Butler, M.E. Cataletto, Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J. Endocrinol. Invest. 38(12), 1249–1263 (2015)PubMedPubMedCentralCrossRef
4.
go back to reference G. Bellastella, M.I. Maiorino, A. Bizzarro et al. Revisitation of autoimmune hypophysitis: knowledge and uncertainties on pathophysiological and clinical aspects. Pituitary 19(6), 625–642 (2016)PubMedCrossRef G. Bellastella, M.I. Maiorino, A. Bizzarro et al. Revisitation of autoimmune hypophysitis: knowledge and uncertainties on pathophysiological and clinical aspects. Pituitary 19(6), 625–642 (2016)PubMedCrossRef
5.
go back to reference A. De Bellis, A. Bizzarro, M. Conte et al. Antipituitary antibodies in adults with apparently idiopathic growth hormone deficiency and in adults with autoimmune endocrine diseases. J. Clin. Endocrinol. Metab. 88, 650–654 (2003)PubMedCrossRef A. De Bellis, A. Bizzarro, M. Conte et al. Antipituitary antibodies in adults with apparently idiopathic growth hormone deficiency and in adults with autoimmune endocrine diseases. J. Clin. Endocrinol. Metab. 88, 650–654 (2003)PubMedCrossRef
6.
go back to reference A. Ricciuti, A. De Remigis, M.A. Landek-Salgado et al. Detection of pituitary antibodies by immunofluorescence: approach and results in patients with pituitary diseases. J. Clin. Endocrinol. Metab. 99(5), 1758–1766 (2014)PubMedPubMedCentralCrossRef A. Ricciuti, A. De Remigis, M.A. Landek-Salgado et al. Detection of pituitary antibodies by immunofluorescence: approach and results in patients with pituitary diseases. J. Clin. Endocrinol. Metab. 99(5), 1758–1766 (2014)PubMedPubMedCentralCrossRef
7.
go back to reference G. Bellastella, M. Rotondi, E. Pane et al. Predictive role of the immunostaining pattern of immunofluorescence and the titers of antipituitary antibodies at presentation for the occurrence of autoimmune hypopituitarism in patients with autoimmune polyendocrine syndromes over a five-year follow-up. J. Clin. Endocrinol. Metab. 95, 3750–3757 (2010)PubMedCrossRef G. Bellastella, M. Rotondi, E. Pane et al. Predictive role of the immunostaining pattern of immunofluorescence and the titers of antipituitary antibodies at presentation for the occurrence of autoimmune hypopituitarism in patients with autoimmune polyendocrine syndromes over a five-year follow-up. J. Clin. Endocrinol. Metab. 95, 3750–3757 (2010)PubMedCrossRef
8.
go back to reference A. De Bellis, G. Bellastella, M.I. Maiorino et al. Longitudinal behavior of autoimmune GH deficiency: from childhood to transition age. Eur. J. Endocrinol. 174(3), 381–387 (2016)PubMedCrossRef A. De Bellis, G. Bellastella, M.I. Maiorino et al. Longitudinal behavior of autoimmune GH deficiency: from childhood to transition age. Eur. J. Endocrinol. 174(3), 381–387 (2016)PubMedCrossRef
9.
go back to reference A. De Bellis, A. Dello Iacovo, G. Bellastella et al. Characterization of pituitary cells targeted by antipituitary antibodies in patients with isolated autoimmune diseases without pituitary insufficiency may help to foresee the kind of future hypopituitarism. Pituitary 17(5), 457–463 (2014)PubMedCrossRef A. De Bellis, A. Dello Iacovo, G. Bellastella et al. Characterization of pituitary cells targeted by antipituitary antibodies in patients with isolated autoimmune diseases without pituitary insufficiency may help to foresee the kind of future hypopituitarism. Pituitary 17(5), 457–463 (2014)PubMedCrossRef
10.
go back to reference G. Grugni, E. Marostica, A. Crinò et al. Deconvolution-based assessment of pituitary GH secretion stimulated with GHRH + arginine in Prader-Willi adults and obese controls. Clin. Endocrinol. 79(2), 224–233 (2013)CrossRef G. Grugni, E. Marostica, A. Crinò et al. Deconvolution-based assessment of pituitary GH secretion stimulated with GHRH + arginine in Prader-Willi adults and obese controls. Clin. Endocrinol. 79(2), 224–233 (2013)CrossRef
11.
go back to reference L.C. Burnett, C.A. LeDuc, C.R. Sulsona et al. Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome. J. Clin. Invest. 127(1), 293–305 (2017)PubMedCrossRef L.C. Burnett, C.A. LeDuc, C.R. Sulsona et al. Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome. J. Clin. Invest. 127(1), 293–305 (2017)PubMedCrossRef
12.
go back to reference F. Tanriverdi, A. De Bellis, M. Battaglia et al. Investigation of antihypothalamus and antipituitary antibodies in amateur boxers: is chronic repetitive head trauma-induced pituitary dysfunction associated with autoimmunity? Eur. J. Endocrinol. 162(5), 861–867 (2010)PubMedCrossRef F. Tanriverdi, A. De Bellis, M. Battaglia et al. Investigation of antihypothalamus and antipituitary antibodies in amateur boxers: is chronic repetitive head trauma-induced pituitary dysfunction associated with autoimmunity? Eur. J. Endocrinol. 162(5), 861–867 (2010)PubMedCrossRef
13.
go back to reference A.E. Rigamonti, G. Grugni, N. Marazzi et al. Unaltered ratio of circulating levels of growth hormone/GH isoforms in adults with Prader-Willi syndrome after GHRH plus arginine administration. Growth Horm. IGF Res. 25(4), 168–173 (2015)PubMedCrossRef A.E. Rigamonti, G. Grugni, N. Marazzi et al. Unaltered ratio of circulating levels of growth hormone/GH isoforms in adults with Prader-Willi syndrome after GHRH plus arginine administration. Growth Horm. IGF Res. 25(4), 168–173 (2015)PubMedCrossRef
Metadata
Title
Autoimmune pituitary involvement in Prader–Willi syndrome: new perspective for further research
Authors
Graziano Grugni
Antonino Crinò
Annamaria De Bellis
Alessio Convertino
Sarah Bocchini
Sabrina Maestrini
Paolo Cirillo
Silvana De Lucia
Maurizio Delvecchio
on behalf of the Italian Autoimmune Hypophysitis Network Study and of the Genetic Obesity Study Group of the Italian Society of Pediatric Endocrinologyand Diabetology (ISPED)
Publication date
01-12-2018
Publisher
Springer US
Published in
Endocrine / Issue 3/2018
Print ISSN: 1355-008X
Electronic ISSN: 1559-0100
DOI
https://doi.org/10.1007/s12020-018-1666-5

Other articles of this Issue 3/2018

Endocrine 3/2018 Go to the issue