Kallmann's syndrome: clues to clinical diagnosis.
Five cases of Kallmann's syndrome are presented, out-patients with microtestes, hypogonadotropic hypogonadism and complete anosmia. The final diagnosis was made only when they were aged between 17 and 26 (mean 21 years), although they had been seen by several physicians before: 3 for cryptorchidism and 3 for absence of spontaneous puberty; 2 had a positive family history, and 4 of the 5 patients or their parents admitted that they were aware of the fact that their sense of smell was completely absent, but they did not mention it spontaneously.
John
H
H
Department of Urology, Zürich University Hospital, Switzerland. john@uro.usz.ch
Schmid
C
C
D000293:Adolescent; D000328:Adult; D001846:Bone Development / Q000502:physiology; D020249:Hormone Replacement Therapy; D006728:Hormones / Q000097:blood; D006801:Humans; D017436:Kallmann Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000188:drug therapy; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D011628:Puberty, Delayed / Q000209:etiology; D011859:Radiography; D013739:Testosterone / Q000008:administration & dosage / Q000627:therapeutic use; D014953:Wrist / Q000000981:diagnostic imaging
D006728:Hormones; D013739:Testosterone; D007986:Luteinizing Hormone