Nihon Bika Gakkai Kaishi (Japanese Journal of Rhinology)
Online ISSN : 1883-7077
Print ISSN : 0910-9153
ISSN-L : 0910-9153
Original Case Reports
Diagnosis of Kallmann Syndrome Following a Femur Fracture in a Middle Age Male Patient
Yuichiro OhtsukaToshimitsu NemotoKiyoshi HirumaKazuki YamasakiToyoyuki Hanazawa
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2022 Volume 61 Issue 4 Pages 663-669


Kallmann syndrome is a rare congenital disorder with hypogonadotropic hypogonadism as the primary symptom and congenital olfactory dysfunction as a secondary symptom. The patient was a 56-year-old male who was found to have significant osteoporosis following a femur fracture. Hypogonadism including Kallmann syndrome was suspected due to his female-like facial features and high voice. He had gynecomastia, little pubic hair and no axillary hair. In puberty he had no change of voice and had a small penis and testicles. He also had no concept of smell and had no response to an intravenous Alinamin test. Olfactory bulbs were bilaterally absent and olfactory sulci were bilaterally hypoplastic in MRI. Due to a low response of gonadotropin in a LH-RH test and impaired testosterone secretion, the patient was diagnosed with Kallmann syndrome. Nasal steroids for anosmia were ineffective. Bone density was restored after testosterone replacement for osteoporosis. While there is no effective treatment for anosmia in Kallmann syndrome, hypogonadism is treatable and early treatment may lead to acquisition of reproductive function and greatly improve quality of life. The role of otorhinolaryngology in congenital anosmia is very important for early diagnosis and treatment of Kallmann syndrome.

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© 2022 Japan Rhinologic Society
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