Short stature and growth hormone deficiency: unexpected manifestations of McCune-Albright syndrome

BMJ Case Rep. 2018 Aug 27:2018:bcr2018225709. doi: 10.1136/bcr-2018-225709.

Abstract

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.

Keywords: endocrine system; osteoporosis; skin.

Publication types

  • Case Reports

MeSH terms

  • Cafe-au-Lait Spots / pathology
  • Diphosphonates / therapeutic use
  • Disease Progression
  • Facial Bones*
  • Female
  • Fibrous Dysplasia, Polyostotic / diagnosis*
  • Fibrous Dysplasia, Polyostotic / diagnostic imaging
  • Fibrous Dysplasia, Polyostotic / physiopathology
  • Humans
  • Puberty, Precocious / pathology
  • Skull*
  • Young Adult

Substances

  • Diphosphonates