A novel finding in MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy): hypergonadotropic hypogonadism

Abstract

Address for correspondence: Ismail Hakki Kalkan, MD, Attar Sokak 21/14, Gaziosmanpasa/ Cankaya 06700, ankara, Turkey, Tel.: +90 505 270 40 85, e-mail: drismailster@gmail.com Received 13-03-12, Revised 15-06-12, Accepted 02-07-12 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder caused by mutations in the gene encoding thymidine phosphorylase (endothelial cell growth factor 1) (ECGF1). MNGIE is characterized by severe gastrointestinal dysmotility and leads to cachexia, ptosis, external ophthalmoplegia, peripheral neuropathy, and leukoencephalopathy. MNGIE is a rare disorder that can appear any time from childhood to adulthood. Its prevalence is unknown while marked delay in the diagnosis is common. Herein we report a unique case of MNGIE that has an endocrinologic involvement presenting with primary hypogonadism.