A rare case of hypogonadism with Wolfram syndrome in an adult patient: A case report

Abstract

The Wolfram syndrome is a rare dysmorphogenetic disease of autosomal recessive hereditary nature, characterized by insulin-dependent diabetes mellitus; the disease also has a constellation of other complications contributing to the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). It comprises a wide spectrum of additional morbidities including hypopituitarism, hypogonadism, urinary tract problems, infertility, and neurological and psychiatric disorders. We present a rare case of a 22-year Type-1 Diabetic male diagnosed with Wolfram syndrome along with features suggestive of hypogonadism. The diagnosis of Wolfram syndrome is not always apparent in the first stages of the disease. Thus, our patient had to undergo several clinical tests for confirmation of diagnosis including fundoscopy, audiometry, water deprivation test, and renal sonography. The fundoscopy revealed bilateral optic atrophy. He also had moderate bilateral sensorineural hearing loss confirmed with an audiogram. A water deprivation test was performed which established the diagnosis of diabetes insipidus. Hence, this clinical case ascertains variability in the clinical features of Wolfram syndrome.