Analysis only after pubertal age, 13–16 years (n=22)Early puberty requiring gonadotropin hormone-releasing hormone analogue treatment associated with radiotherapy (n=10)Clinical progression of puberty normal in 15 girls: normal FSH and LH in 14 and high in 1, normal AMH and inhibin B in 11, low in 4Abnormal progression of puberty in 7 girls: 2 with central hypogonadism (low FSH and LH), 4 with primary hypogonadism (low AMH and inhibin B, high FSH and LH), and 1 with combined (central and ovarian) hypogonadism (low AMH and inhibin B with inadequately normal FSH and LH). The gene discussed is PLOD1; the disease is Hypergonadotropic hypogonadism.