Kallmann syndrome

Legouis R., Cohen-Salmon M., Delcastillo I. and Petit C. (1994). Isolation and characterization of the gene responsible for the X-chromosome linked Kallmann syndrome. Biomed Pharm 48, 241-246. 

Franco, B., GuioU, S., PragUola, A., et al. (1991) A gene deleted in Kallmanns syndrome shares homology with neural ceU-adhesion and axonal path-finding molecules. Nature. 353, 529-536. 

Legouis, R., HardeUn, J. P., LeviUiers, J., et al. (1991) The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell. 67, 423 35. 

Pitteloud, N., Zhang, C., Pignatelli, D., Li, J. D., Raivio, T., Cole, L. W., Plummer, L., Jacobson-Dickman, E. E., Mellon, P. L., Zhou, Q. Y., and Crowley, W. F. Jr. (2007). Loss-of-function mutation in the prokinetidn 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc. Natl. Acad. Sci. USA 104, 17447-17452. 

Monnier C, Dode C, Fabre L et al (2009) PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity. Hum Mol Genet 18 75-81... 

Kallmann syndrome Hypogonadotropic hypogonadism, anosmia, cryptorchism AD, AR, X-1 (147950) FGFRI, BROKR2, PROK2... 

Quinton H.W., Grant W., Thrasivoulou C.Q. and Besser G.M. (1997). Gonadotropin-releasing hormone immunoreactivity in the nasal epithelia of adults with Kallmann s syndrome and isolated hypogonadotropic hypogonadism, in the early midtrimester human fetus. J Clin Endocrinol Metab 82, 309-314. 

Seminara, S. B., Hayes, F. J., and Crowley, W. F. (1998) Gonadotropin-releasing hormone deficiency in the human (Idiopathic hypogonadotropic hypogonadism and Kallmann s syndrome) Pathophysiological and genetic considerations. Endocr. Rev. 19, 521-539. 

As discussed earlier, Kallmann s syndrome involves hypogonadotropic hypogonadism associated with anosmia or hyposraia and is caused by a defect in the formation and migration of GnRH neurons. Sexual infantilism is the prominent manifestation and primary amenorrhea is common. Finally, delayed pubertal development also should be considered. 

Constitutional delay in the onset of menses (physiological) Nutritional disorders Kallmann s syndrome... 

Hypothalamic dysfunction (Kallmann s syndrome) Pituitary failure (tumor, radiation, surgery) Hyperprolactinemia (drug, tumor)... 

Kjasr, I. Fischer-Hansen, B. 1996b. Luteinizing hormone-releasing hormone and innervation pathways in human prenatal nasal submucosa factors of importance in evaluating Kallmann s syndrome. APMIS, 104, 680-688. 

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