Clinical genetics of Kallmann syndrome.

  title={Clinical genetics of Kallmann syndrome.},
  author={Catherine Dod{\'e} and Jean-Pierre Hardelin},
  journal={Annales d'endocrinologie},
  volume={71 3},
The Kallmann syndrome (KS) combines hypogonadotropic hypogonadism (HH) with anosmia. This is a clinically and genetically heterogeneous disease. KAL1, encoding the extracellular glycoprotein anosmin-1, is responsible for the X chromosome-linked recessive form of the disease (KAL1). Mutations in FGFR1 or FGF8, encoding fibroblast growth factor receptor-1 and fibroblast growth factor-8, respectively, underlie an autosomal dominant form with incomplete penetrance (KAL2). Mutations in PROKR2 and… CONTINUE READING