ea0038p360 | Reproduction | SFEBES2015
Izatt Louise
, Carroll Paul
, Lillis Suzanne
, Brodd Lina
, Stone Kristina
, Ryan Kevin
, Ahn JooWook
, Simpson Michael
, Yau Michael
Congenital hypogonadotropic hypogonadism (CHH (MIM161110)) due to GnRH deficiency is a rare genetic disorder (affects ~1/30 000) characterised by abnormal pubertal development and infertility. Over 60% cases have anosmia (Kallmann syndrome) and some exhibit additional phenotypes. CHH is a genetically heterogeneous developmental disease. Most cases present sporadically, although familial forms (AD, AR, and X-linked) with incomplete penetrance and variable expressivity occur. Re...