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

Koc, E; Bayrak, G; Suher, M; Ensari, C; Aktas, D; Ensari, ARZU

doi:10.1111/j.1440-1797.2006.00443.x

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

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

NEPHROLOGY, cilt.11, sa.2, ss.81-84, 2006 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 11 Sayı: 2
Basım Tarihi: 2006
Doi Numarası: 10.1111/j.1440-1797.2006.00443.x
Dergi Adı: NEPHROLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.81-84
Anahtar Kelimeler: Alstrom syndrome, blindness, deafness, normal body weight, renal dysfunction, short stature, DILATED CARDIOMYOPATHY, SIBS, SIBLINGS
Ankara Üniversitesi Adresli: Evet

Özet

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.