ESPE Abstracts

In male fetuses, during the first 4–6 months of life, the ‘mini-puberty’ represents a period of intense hormonal activity of the hypothalamic–pituitary axis, reflected physically by an increase in testicular volume due to seminiferous tubule elongation and by an increase in penis length. During this period, pituitary LH and FSH levels rise, leading to an increase in circulating levels of testosterone, inhibin B and AMH. Concomitantly, Sertoli cells proliferate and a degree of germ cell development occurs. Congenital hypogonadotropic hypogonadism (CHH) could be suspected in a male neonate with cryptorchidism and micropenis, and easily confirmed by hormone assays before the age of 6 months. The best hormonal replacement in CHH newborns remains still unclear. Testosterone treatment has been traditionally successfully used to treat micropenis, and surgery is sometimes needed for cryptorchidism. The first patient with CHH and micropenis, treated with recombinant human subcutaneous LH and FSH during the first year of life, was reported 10 years ago, with an increased penile length and testicular volume. As the aim of the treatment was to re-establish the physiological postnatal gonadotropin peak, neonates with CHH were treated by our group, for 6 months, with recombinant human LH and FSH, delivered subcutaneously via a pump. Penile length and testicular volume increased, and the treatment was well tolerated. Spontaneous testicular descent occurred in a small number of patients during the treatment. This could represent a further benefit of neonatal treatment with gonadotropins, for children with CHH, as cryptorchidism is a factor of poor prognosis for adult fertility, as well as a risk factor for testicular malignancy.