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

Koç E., Bayrak G., Suher M., Ensari C., Aktas D., ENSARİ A.

Nephrology, vol.11, no.2, pp.81-84, 2006 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 11 Issue: 2
  • Publication Date: 2006
  • Doi Number: 10.1111/j.1440-1797.2006.00443.x
  • Journal Name: Nephrology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.81-84
  • Keywords: Alstrom syndrome, Blindness, Deafness, Normal body weight, Renal dysfunction, Short stature
  • Yozgat Bozok University Affiliated: No

Abstract

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. © 2006 Asian Pacific Society of Nephrology.