Delayed puberty in a girl due to an inactivating mutation of the LH receptor

We report the case of a 46 XY patient with a disorder of sex differentiation (DSD) caused by an inactivating mutation of the LH receptor. Mutations of genes involved in hypothalamic-pituitary-gonadal function are rare but they provide an experience of nature for understanding the physiology and the pathophysiology of gonadotropins actions. There arise from correlation between the phenotypes and genotypes in those unique conditions. Management of this particular patient with no LH activity involves oestrogen replacement therapy to induce breast development together with a gonadectomy due to the risk of gonadoblastoma in streak gonads.