POLR3A-related non-neurological findings typically described by others [10] (i.e., acrocyanosis and dental abnormalities) were absent in all these Italian patients, with the exception of patient 4 who presented subclinical hypogonadotropic hypogonadism with low levels of FSH and LH. The gene discussed is POLR3A; the disease is hypogonadotropic hypogonadism.