A novel finding in MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy): hypergonadotropic hypogonadism İsmail Hakkι Kalkan, Öykü Tayfur, Erkin Öztaş, Yavuz Beyazit, Hakan Yildiz, Bilge Tunç Gastroenterology, Türkiye Yuksek Ihtιsas Hospιtal, Ankara, Turkey HORMONES 2012, 11(3):377-379 Address for correspondence: İsmail Hakkı Kalkan, MD, Attar Sokak 21/14, Gaziosmanpaşa/ Çankaya 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 encephalo- myopathy (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. 1 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. 2 Herein we report a unique case of MNGIE that has an endocrinologic involvement presenting with primary hypogonadism. A 23-year old male with episodic vomiting and epigastric pain had been investigated for the last six years. He was cachectic (weight, 41kg; height, 160 cm, BMI:16.0 kg/m 2 ). He had generalized muscle weakness and atrophy, absent tendon reflexes in the lower extremities, mild bilateral ophthalmoplegia and ptosis, gynecomastia, hair loss in the pubic area, and subnormal testicular volume. Although he had a history of previous hospitalizations several times at various institutions, no specific disease had been identified. He was finally prescribed a therapeutic trial of gluten free regimen because of equivocal findings associated with celiac disease, but his symptoms did not disappear. He is a member of a consanguineous family with four children. The three brothers had suffered from similar symptoms and died. Upper gastrointestinal endoscopy revealed es- ophagitis (Los Angeles Stage D) and pangastritis. Pathological examination of a duodenal biopsy speci- men was not compatible with gluten sensitive enter- opathy (GSE). Specific antibodies for GSE were also negative in the patient’s serum. Direct radiography revealed air-fluid levels in the small intestinal seg- ments and showed a hypotonic-ptotic stomach and diffuse thickening of the small intestinal wall following diluted barium ingestion. The mucosal folds could not be observed clearly, but the passage appeared to be normal on imaging. Endoscopic examination of the colon was normal. Due to the patient’s neurologic symptoms, an electromyography was performed. As a result, bilat- eral sensorimotor mixed type polyneuropathy was detected, especially in the lower extremities. Brain magnetic resonance imaging showed an increase in signal, affecting the subcortical and periventricu- lar white matter of both hemispheres indicative of diffuse leucoencephalopathy. His muscle biopsy documented mitochondrial myopathy. Due to his Case report Key words: Hypergonadotropic hypogo- nadism, Mitochondrial myopathy, MNGIE