Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood.
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.
Koç
Eyup
E
Department of Internal Medicine, Atatürk Teaching and Research Hospital, Ankara, Turkey. koceyup@yahoo.com
Bayrak
Gulden
G
Suher
Murat
M
Ensari
Cuneyt
C
Aktas
Dilek
D
Ensari
Arzu
A