Kallmann syndrome

Kallmann syndrome is the combination of hypogonadotropic hypogonadism and anosia. 

It may be inherited in a X-linked recessive, autosomal dominant or autosomal recessive pattern. However, most cases are sporadic. 

Associations with the x-linked recessive form of Kallmanns include 

• Unilateral renal aplasia - 30% 
• Bimanual synkinesis (upper limb mirror movements) – 75% 

Blood LH/FSH/testosterone are all either normal or low. 

Treatment is with hormone replacment, which restores fertility in the vast majority of patients. 

References:

Dode, C. and Hardelin, J. Kallmann syndrome. Eur J Hum Genet. 2009; 17(2): 139-146. 

Massin, N. et al. X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene. J Clin Endocrinol Metab. 2003; 88(5):2003-2008. 

OMIM: Kallmann syndrome. Available at http://omim.org/entry/308700?search=kallmann&highlight=kallmann