Searchable abstracts of presentations at key conferences in endocrinology

ea0014oc7.1 | Reproductive endocrinology I | ECE2007

Kallmann syndrome: mutations in the genes encoding prokineticin-2 (PROK2) and prokineticin receptor-2 (PROKR2)

Dodé Catherine , Hardelin Jean-Pierre

Kallmann syndrome (KS) combines hypogonadotropic hypogona dism and anosmia. Anosmia is related to the hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone (GnRH), and probably results from a failure of the embryonic migration of GnRH-synthesizing neurons. This is a genetically heterogeneous disease, which affects 1:8000 males and five times less females. Loss-of-function mutations in KAL1 and FGFR1 acco...