Skip to main content

Cushing Syndrome in Childhood

  • Chapter
  • First Online:
Pediatric Endocrinology

Abstract

Cushing syndrome is a multisystem disorder resulting from the body’s prolonged exposure to excess production of glucocorticoids. It is characterized by truncal obesity, growth deceleration, characteristic skin changes, muscle weakness, and hypertension. Most commonly, Cushing syndrome in childhood results from the exogenous administration of glucocorticoids. In this chapter, we present the causes and discuss the treatment of endogenous Cushing syndrome.

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

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 189.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 249.99
Price excludes VAT (USA)
  • Durable hardcover 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. Magiakou MA, Mastorakos G, Oldfield EH, et al. Cushing’s syndrome in children and adolescents. Presentation, diagnosis, and therapy. N Engl J Med. 1994;331(10):629–36.

    Article  PubMed  CAS  Google Scholar 

  2. Lodish MB, Sinaii N, Patronas N, et al. Blood pressure in pediatric patients with Cushing syndrome. J Clin Endocrinol Metab. 2009;94(6):2002–8.

    Article  PubMed  CAS  Google Scholar 

  3. Tsigos C, Chrousos GP. Differential diagnosis and management of Cushing’s syndrome. Annu Rev Med. 1996;47:443–61.

    Article  PubMed  CAS  Google Scholar 

  4. Orth DN. Cushing’s syndrome. N Engl J Med. 1995;332(12):791–803.

    Article  PubMed  CAS  Google Scholar 

  5. Stratakis CA, Kirschner LS. Clinical and genetic analysis of primary bilateral adrenal diseases (micro- and macronodular disease) leading to Cushing syndrome. Horm Metab Res. 1998;30(6–7):456–63.

    Article  PubMed  CAS  Google Scholar 

  6. Stratakis CA. Cushing syndrome caused by adrenocortical tumors and hyperplasias (corticotropin-independent Cushing syndrome). Endocr Dev. 2008;13:117–32.

    Article  PubMed  CAS  Google Scholar 

  7. Carney JA, Young WF, Stratakis CA. Primary bimorphic adrenocortical disease: cause of hypercortisolism in McCune-Albright syndrome. Am J Surg Pathol. 2011;35(9):1311–26.

    Article  PubMed  CAS  Google Scholar 

  8. Hslao HP, Kirshner LS, Bourdeau I et al. Clinical and genetic heterogeneity, overlap with other tumor syndromes, and atypical glucocorticold hormone secretion in adrenocorticotropin-independent macro­nodular adrenel hyperplasia compared with other adrenocortical tumors. J Clin Endocrinol Metab. 2009;94(8):2930–7.

    Article  PubMed  CAS  Google Scholar 

  9. Kirschner LS, Carney JA, Pack SD, et al. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet. 2000;26(1):89–92.

    Article  PubMed  CAS  Google Scholar 

  10. Horvath A, Boikos S, Giatzakis C, et al. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet. 2006;38(7):794–800.

    Article  PubMed  CAS  Google Scholar 

  11. Gunther DF, Bourdeau I, Matyakhina L, et al. Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity? J Clin Endocrinol Metab. 2004;89(7):3173–82.

    Article  PubMed  CAS  Google Scholar 

  12. Horvath A, Mericq V, Stratakis CA. Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. N Engl J Med. 2008 358(7):750–2.

    PubMed  CAS  Google Scholar 

  13. Stratakis CA, Tichomirowa MA, Boikos S, et al. The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes. Clin Genet. 2010;78(5):457–63.

    Article  PubMed  CAS  Google Scholar 

  14. Magiakou MA, Chrousos GP. Cushing’s syndrome in children and adolescents: current diagnostic and ­therapeutic strategies. J Endocrinol Invest. 2002;25(2):181–94.

    PubMed  CAS  Google Scholar 

  15. Batista DL, Riar J, Keil M, Stratakis CA. Diagnostic tests for children who are referred for the investigation of Cushing syndrome. Pediatrics. 2007;120(3):e575–86.

    Article  PubMed  Google Scholar 

  16. Bornstein SR, Stratakis CA, Chrousos GP. Adrenocortical tumors: recent advances in basic concepts and clinical management. Ann Intern Med. 1999;130(9):759–71.

    PubMed  CAS  Google Scholar 

  17. Nieman LK, Biller BM, Findling JW, et al. The diagnosis of Cushing’s syndrome: an Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2008;93(5):1526–40.

    Article  PubMed  CAS  Google Scholar 

  18. Yanovski JA, Cutler Jr GB, Chrousos GP, Nieman LK. Corticotropin-releasing hormone stimulation following low-dose dexamethasone administration. A new test to distinguish Cushing’s syndrome from pseudo-Cushing’s states. JAMA. 1993;269(17):2232–8.

    Article  PubMed  CAS  Google Scholar 

  19. Batista DL, Courcoutsakis N, Riar J, Keil MF, Stratakis CA. Severe obesity confounds the interpretation of low-dose dexamethasone test combined with the administration of ovine corticotrophin-releasing hormone in childhood Cushing syndrome. J Clin Endocrinol Metab. 2008;93(11):4323–30.

    Article  PubMed  CAS  Google Scholar 

  20. Louiset E, Stratakis CA, Perraudin V, et al. The paradoxical increase in cortisol secretion induced by dexamethasone in primary pigmented nodular adrenocortical disease involves a glucocorticoid receptor-mediated effect of dexamethasone on protein kinase A catalytic subunits. J Clin Endocrinol Metab. 2009;94(7):2406–13.

    Article  PubMed  CAS  Google Scholar 

  21. Chrousos GP, Schulte HM, Oldfield EH, Gold PW, Cutler Jr GB, Loriaux DL. The corticotropin-releasing factor stimulation test. An aid in the evaluation of patients with Cushing’s syndrome. N Engl J Med. 1984;310(10):622–6.

    Article  PubMed  CAS  Google Scholar 

  22. Batista D, Courkoutsakis NA, Oldfield EH, et al. Detection of adrenocorticotropin-secreting pituitary adenomas by magnetic resonance imaging in children and adolescents with Cushing disease. J Clin Endocrinol Metab. 2005;90(9):5134–40.

    Article  PubMed  CAS  Google Scholar 

  23. Oldfield EH, Doppman JL, Nieman LK, et al. Petrosal sinus sampling with and without corticotropin-releasing hormone for the differential diagnosis of Cushing’s syndrome. N Engl J Med. 1991;325(13):897–905.

    Article  PubMed  CAS  Google Scholar 

  24. Batista D, Gennari M, Riar J, et al. An assessment of petrosal sinus sampling for localization of pituitary microadenomas in children with Cushing disease. J Clin Endocrinol Metab. 2006;91(1):221–4.

    Article  PubMed  CAS  Google Scholar 

  25. Batista DL, Oldfield EH, Keil MF, Stratakis CA. Postoperative testing to predict recurrent Cushing disease in children. J Clin Endocrinol Metab. 2009;94(8):2757–65.

    Article  PubMed  CAS  Google Scholar 

  26. Powell AC, Stratakis CA, Patronas NJ, et al. Operative management of Cushing syndrome secondary to micronodular adrenal hyperplasia. Surgery. 2008;143(6):750–8.

    Article  PubMed  Google Scholar 

  27. Stratakis CA. Cushing syndrome in pediatrics. Endocrinol Metab Clin North Am. 2012;14(4):793–803.

    Article  PubMed  CAS  Google Scholar 

  28. Lodish M, Dunn SV, Sinaii N, Keil MF, Stratakis CA. Recovery of the hypothalamic-pituitary-adrenal axis in children and adolescents after surgical cure of Cushing’s disease. J Clin Endocrinol Metab. 2012;27(5):1483–91.

    Article  PubMed  CAS  Google Scholar 

  29. Merke DP, Giedd JN, Keil MF, et al. Children experience cognitive decline despite reversal of brain atrophy one year after resolution of Cushing syndrome. J Clin Endocrinol Metab. 2005;90(5):2531–6.

    Article  PubMed  CAS  Google Scholar 

  30. Keil MF, Merke DP, Gandhi R, Wiggs EA, Obunse K, Stratakis CA. Quality of life in children and adolescents 1-year after cure of Cushing syndrome: a prospective study. Clin Endocrinol (Oxf). 2009;71(3):326–33.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Constantine A. Stratakis M.D., D.(Med.)Sc. .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2013 Springer Science+Business Media New York

About this chapter

Cite this chapter

Keil, M.F., Stratakis, C.A. (2013). Cushing Syndrome in Childhood. In: Radovick, S., MacGillivray, M. (eds) Pediatric Endocrinology. Contemporary Endocrinology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-60761-395-4_14

Download citation

  • DOI: https://doi.org/10.1007/978-1-60761-395-4_14

  • Published:

  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-60761-394-7

  • Online ISBN: 978-1-60761-395-4

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics