Swyer’s Syndrome: Discordance between Genetic and Biological Sex - Case report

Abstract

Swyer’s syndrome is a rare condition in which a disorder of the sex chromosomes produces a defective gonadogenesis with total absence of functional gonadal tissue, resulting in pure gonadal dysgenesis and discordance between genetic and biological sex. The gonads appear as rudimentary bands and the risk of developing gonadal tumors is significant. The etiology is not clear: one of the possible causes is the absence or mutations of the SRY gene located on the Y chromosome. This gene is considered to be the most important, although it is known that there are other genes involved in the cascade of sexual differentiation. This article reports the case of a 17-year-old female phenotype patient who was studied for primary amenorrhea and presented laboratory findings compatible with hypergonadotropic hypogonadism, 46XY karyotype, who was diagnosed with Swyer Syndrome.