46 XX male syndrome with hypogonadotropic hypogonadism: A case report

Abstract

We report a 46 XX male syndrome diagnosed after failure of gonadotropin therapy taken for hypogonadotropic hypogonadismdue to a pituitary macroadenoma. A 39-year-old man with a non-functioning pituitary macroadenoma was admitted to ourclinic due to vision loss and infertility. After pituitary surgery, vision loss improved while infertility still existed. Low testosterone levels without elevated gonadotropins were established suggesting hypogonadotropic hypogonadism due to pituitaryadenoma. Gonadotropin treatment was initiated. There was no response to treatment after 12 months. A karyotype analysiswas ordered to investigate other causes of infertility. Karyotype analysis showed a 46 XX male syndrome that can explain thefailure of gonadotropin therapy. Testosterone therapy was started instead of gonadotropin therapy. 46 XX male syndromeusually presents with hypergonadotropic hypogonadism. However, in our case, it presented with hypogonadotropic hypogonadism due to pituitary mass not responding to gonadotropin therapy. It is important to keep in mind to obtain a geneticanalysis of patients whose gonadotropin therapy failed, even if their gonadotropin levels are not elevated.