Alström Syndrome with Portal Hypertension.

Joshi, Ameya S; Mohite, Ashok R; Varthakavi, Premlata K; Rathi, Pravin M

Joshi, Ameya S; Mohite, Ashok R; Varthakavi, Premlata K; Rathi, Pravin M.

Afiliação

Joshi AS; Lecturer, Department of Endocrinology.
Mohite AR; Senior Resident, Department of Gastroenterology.
Varthakavi PK; Professor and Head of the Department, Department of Endocrinology.
Rathi PM; Professor and Head of the Department, Department of Gastroenterology, Topiwala National Medical College and BYL Nair Ch Hospital, Mumbai, Maharashtra.

J Assoc Physicians India ; 64(10): 92-93, 2016 10.

Article em En | MEDLINE | ID: mdl-27766814

ABSTRACT

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.

Assuntos

Síndrome de Alstrom/complicações; Hipertensão Portal/complicações; Adolescente; Humanos; Masculino

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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Alstrom / Hipertensão Portal Limite: Adolescent / Humans / Male Idioma: En Revista: J Assoc Physicians India Ano de publicação: 2016 Tipo de documento: Article

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