Familial Cushing's disease with severe weight loss occurring in late childhood

J Paediatr Child Health. 1997 Feb;33(1):74-7. doi: 10.1111/j.1440-1754.1997.tb00996.x.

Abstract

We describe a rare case of familial Cushing's disease occurring in a 7-year-old boy, and 19 years of follow up. Our patient first presented soon after his maternal aunt had been treated for Cushing's disease. The clinical presentation was made complicated by the development of an intercurrent eating disorder resembling anorexia nervosa. This resulted in marked weight loss, and even though serum and urinary cortisol levels were elevated, many of the clinical stigmata of Cushing's disease were absent. Eating disorders are relatively uncommon in boys, and in this case there was an organic cause for the abnormal behaviour. This case shows, furthermore, that even the obesity of Cushing's disease can be overcome by the combination of diet and exercise.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age of Onset
  • Anorexia Nervosa
  • Child
  • Cushing Syndrome / genetics
  • Cushing Syndrome / physiopathology*
  • Hirsutism
  • Humans
  • Male
  • Weight Loss