an oligogenic etiology has been suggested. However, the associated genes may account for
only approximately 50% cases. In addition, a genomic systematic pedigree analysis is still
lacking. Here, we conducted whole exome sequencing (WES) on 18 unrelated men affected
by IHH and their corresponding parents. Notably, one reported and 10 novel variants in
eight known IHH causative genes (AXL, CCDC141, CHD7, DMXL2, FGFR1, PNPLA6 …