GNRHR and Gonadotropin deficiency: We therefore anticipated that GNRHR mutations leading to partial loss-of-function, such as p.(Arg262Gln) and p.(Gln106Arg) [10,11] should be sought for in patients with clinical and biochemical signs of mild gonadotropin deficiency, such as problems in the progression of puberty and/or maintenance of the hypothalamic-pituitary-gonadal axis.