A Case of Kallmann's Syndrome: MR Imaging and Histopathology

ABSTRACT

Kallmann's syndrome is a rare genetic disorder defined as a combination of anosmia or hyposmia and hypogonadism due to hypothalamic-pituitary deficiency. The incidence of Kallmann's syndrome is one in 100,000 men and one in 50,000 women. However, the syndrome is found in one in 25 people with hypogonadism. The clinical evaluation of these patients includes historical and physical examinations ; chemosensory testing, which includes olfactory threshold and identification tests ; laboratory testing for hormonal abnormalities ; MR imaging of the olfactory apparatus ; and histopathologic findings through an olfactory epithelial biopsy. We report the case of a 19-year-old male patient who had anosmia since birth and who was diagnosed with Kallmann's syndrome.