ea0022s17.3 | Genetic basis of infertility: clinical studies and clinical models | ECE2010
Dode Catherine
, Hardelin Jean-Pierre
Kallmann syndrome (KS) typically combines severe congenital hypogonadotropic hypogonadism (HH) with anosmia. The degree of the hypogonadism and that of the smell deficiency can, however, vary significantly, not only between unrelated patients, but also within affected families. Some patients may also have non-reproductive, non-olfactory additional anomalies. Five causal genes have been identified to date, namely, KAL1, FGFR1, FGF8, PROKR2, and PR...