Kallmann syndrome--a case report.

摘要: Kallmann syndrome is a very rare hereditary disease. It characterized by hypogonadotropic hypogonadism in association with anosmia ot hyposmia, both of which occur as result the failure neuronal migration luteinizing hormone releasing (LHRH)--secreting neurons and vemeronasal nerve. can be autosomal dominant, recessive, or X-linked mode inheritance. We report case that presented delay puberty, color blindness, gynecomastia, absence smell. Plasma levels LH, FSH testosterone were low. The patient's adrenal thyroid normal. Chromosome analysis showed 46, XY karyotype without deletion KAL gene (Xp22.3) from FISH. After 9 months treatment HCG HMG, amount pubic hair volume bilateral testes, well level had increased. Most importantly, motile sperm count found semen.