Kallmann's syndrome: clues to clinical diagnosis.
Hypogonadotropic patients may visit pediatricians, general practitioners, endocrinologists or urologists, presenting with microphallus, cryptochidism or pubertas tarda and delayed bone maturation. Congenital hypogonadotropic hypogonadism is characterized, apart from small testes, by the constellation of low serum levels of testosterone, LH and FSH. Kallman's syndrome is characterized by congenital hypogonadotropic hypogonadism with midline defects such as anosmia (a deficiency of the sense of smell). The first case report dates back to 1856, and genetic defects causing the syndrome have been recently described. The diagnosis can be clinically suspected and is established by confirming hormonal studies.
John
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Department of Urology, Zürich University Hospital, Switzerland.
Schmid
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D000293:Adolescent; D000328:Adult; D001846:Bone Development; D003456:Cryptorchidism / Q000209:etiology; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007006:Hypogonadism / Q000209:etiology; D017436:Kallmann Syndrome / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D000857:Olfaction Disorders / Q000209:etiology; D011628:Puberty, Delayed / Q000209:etiology; D013739:Testosterone / Q000097:blood / Q000627:therapeutic use
D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone