Kallmann syndrome--a case report.
Kallmann syndrome is a very rare hereditary disease. It is characterized by hypogonadotropic hypogonadism in association with anosmia ot hyposmia, both of which occur as a result of the failure of neuronal migration of the luteinizing hormone releasing hormone (LHRH)--secreting neurons and the neurons of the vemeronasal nerve. It can be autosomal dominant, autosomal recessive, or X-linked mode of inheritance. We report a case of Kallmann syndrome that presented with delay puberty, color blindness, gynecomastia, and absence of smell. Plasma levels of LH, FSH and testosterone were very low. The patient's adrenal and thyroid hormone levels were normal. Chromosome analysis showed 46, XY karyotype without deletion in KAL gene (Xp22.3) from FISH. After 9 months of treatment by HCG and HMG, the amount of pubic hair and the volume of bilateral testes, as well as the level of testosterone had increased. Most importantly, motile sperm count be found in semen.
Li
Ching-Chia
CC
Department of Urology, Kaohsiung Medical University, No. 100, Shih-Chuan 1st Road, Kaohsiung, 807, Taiwan.
Chao
Mei-Chyn
MC
Huang
Shu-Pin
SP
Chou
Yii-Her
YH
Huang
Chun-Hsiung
CH
Chen
A-Hsiung
AH
Wu
Yi-Ping
YP
D000328:Adult; D006063:Chorionic Gonadotropin / Q000627:therapeutic use; D006801:Humans; D017436:Kallmann Syndrome / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D008297:Male; D008596:Menotropins / Q000627:therapeutic use; D012741:Sexual Maturation
D006063:Chorionic Gonadotropin; D008596:Menotropins