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Rare disease
CASE REPORT
Short stature and growth hormone deficiency: unexpected manifestations of McCune-Albright syndrome
  1. Yordanka Pina Rivera1,2,
  2. Godfrey Mutashambara Rwegerera1,2,
  3. Sheikh Sesay3
  1. 1Department of Internal Medicine, University of Botswana, Gaborone, Botswana
  2. 2Department of Medicine, Princess Marina Hospital, Gaborone, Botswana
  3. 3Department of Radiology, Princess Marina Hospital, Gaborone, Botswana
  1. Correspondence to Dr Godfrey Mutashambara Rwegerera, grwege{at}yahoo.com

Summary

McCune-Albright syndrome (MAS) is a rare disease characterised by triad of monostotic or polyostotic fibrous dysplasia, café au-lait skin spots and a variety of endocrine disorders; precocious puberty (PP) being the most common presenting symptom in female patients. Hyperfunction endocrinopathies including hyperthyroidism, growth hormone excess and cortisol excess are typical presentations in MAS. We present a case of 21-year-old woman with clinical and radiological characteristics of MAS triad; she presented with short stature which was attributed to both growth hormone deficiency and PP. Growth hormone deficiency in MAS has not been reported in English medical literature.

  • endocrine system
  • skin
  • osteoporosis

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

https://doi.org/10.1136/bcr-2018-225709

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    Footnotes

    • Contributors YPR and GMR: wrote the first draft of the manuscript; interpreted the clinical and laboratory findings. SS: interpreted the radiology images. All the authors read, corrected and approved the final manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.