An infant with CHH was treated with recombinant human LH and FSH twice weekly from 7.9 months until around 13.7 months, resulting in an increase in testicular volume by 170%, an increase in penile length from 1.6 to 2.4 cm, and inhibin B concentrations being achieved within the normal range (306). Here, PLOD1 is linked to cartilage-hair hypoplasia.