The proband was screened for mutations in genes known to be associated with CHH including GNRH1, GNRHR1, KISS1, KISS1R, TAC3 and TACR3 and those known to be associated with Kallmann syndrome FGFR1, PROK2 and PROK2R. Analysis of these genes were performed as previously reported [6], [11]–[14]. The gene discussed is PROK2; the disease is cartilage-hair hypoplasia.