A long-term survivor of campomelic dysplasia with 46,XY disorder of sex development and hypogonadotropic hypogonadism

In this report, we present an adolescent patient with a 46,XY karyotype and phenotypically female genitalia secondary to campomelic dysplasia who presented with primary amenorrhea. This patient is unique both for her extended survival and presentation of hypogonadotropic hypogonadism, an unexpected finding in a disease characterised by gonadal dysgenesis that does not normally affect the central pituitary axis. Furthermore, while we might have expected elevated gonadotropins consistent with primary gonadal failure, this patient instead demonstrated low gonadotropin levels with minimally detectable sex steroids, reflecting central hypogonadism and complete functional gonadal failure. This patient was treated with a ¼ of a 0.025 mg estradiol patch (equating to a dose of 0.00625 mg) with plans to titrate to increased doses over the course of 1 year in order to induce puberty, promote bone growth and allow for gender identity concordance.