title: Alström Syndrome with Portal Hypertension.
abstract: Alstrom syndrome is an autosomal recessive multisystem disorder caused by mutation in ALMS1 (2p13). Very few cases of same are reported so far of same. We report a case of Alstrom syndrome (AS) who presented with type II diabetes mellitus and portal hypertension. Unilateral anorchia with hypergonadotropic hypogonadism is another unique feature of our case.
authors.affiliation: Lecturer, Department of Endocrinology.
authors.forename: Ameya S
authors.initials: AS
authors.lastname: Joshi
authors.affiliation: Senior Resident, Department of Gastroenterology.
authors.forename: Ashok R
authors.initials: AR
authors.lastname: Mohite
authors.affiliation: Professor and Head of the Department, Department of Endocrinology.
authors.forename: Premlata K
authors.initials: PK
authors.lastname: Varthakavi
authors.affiliation: Professor and Head of the Department, Department of Gastroenterology, Topiwala National Medical College and BYL Nair Ch Hospital, Mumbai, Maharashtra.
authors.forename: Pravin M
authors.initials: PM
authors.lastname: Rathi
mesh_terms: D000293:Adolescent; D056769:Alstrom Syndrome / Q000150:complications*; D006801:Humans; D006975:Hypertension, Portal / Q000150:complications*; D008297:Male