Kallmann症候群の1例 : 診断における頭部MRIの有用性

Abstract

20歳男.Kallmann症候群例を頭部MRI所見と共に報告した.本症候群の発生原因から考えて, 頭部MRIは本症の診断に有用であると考えられた

We report a case of Kallmann syndrome in which the cranial magnetic resonance imaging (MRI) findings of the olfactory tract were useful in making the diagnosis. A 20-year-old male who complained of delayed puberty was referred to our hospital in November 1998. He presented with hypogonadism and anosmia. The plasma levels of testosterone, luteinizing hormone (LH) and follicle stimulating hormone (FSH) were low. Pituitary and Leydig cell functions were normal by the LH-releasing hormone test and human chorionic gonadotropin (hCG) loading test, respectively. The karyotype was normal (46, XY). The smell test showed anosmia. After administration of hCG, a good response of plasma testosterone level and masculinization were recognized. Cranial MRI findings revealed an absence of olfactory bulbs and hypoplastic olfactory sulci. These MRI findings are characteristic of Kallmann syndrome and allowed us to confirm our diagnosis, in addition to classically used endocrinological and olfactory examination.