Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood

Nephrology (Carlton). 2006 Apr;11(2):81-4. doi: 10.1111/j.1440-1797.2006.00443.x.


Alstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, obesity, type 2 diabetes mellitus and chronic nephropathy. It may be associated with acanthosis nigricans, hypergonadotropic hypogonadism, hepatic dysfunction, hepatic steatosis, hyperlipidaemia, dilated cardiomyopathy and short stature. We report a patient with Alstrom syndrome who had hypergonadotropic hypogonadism, hepatic dysfunction, hepatic steatosis and short stature with normal body weight, all of which are seen infrequently with this syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Blood Glucose / analysis
  • Body Height
  • Creatinine / blood
  • Diabetes Mellitus / diagnosis*
  • Diagnosis, Differential
  • Fatty Liver / diagnostic imaging*
  • Growth Disorders
  • Humans
  • Hypogonadism / diagnosis*
  • Kidney Diseases / diagnosis*
  • Male
  • Retinitis Pigmentosa / diagnosis
  • Syndrome
  • Ultrasonography


  • Blood Glucose
  • Creatinine