The remaining 73 (56.2%) experienced either pubertal arrest (PA, n=1- 0.8%), isolated increase of FSH (IIF, n=25 – 19.2%), compensated hypergonadotropic hypogonadism (cHH, n=30 – 23.1%) or overt hypergonadotropic hypogonadism (cHH, n= 17 – 13.1%). Here, BRD2 is linked to cartilage-hair hypoplasia.