Swyer Syndrome: A diagnostic challenge

Swyer syndrome, represents a rare manifestation of primary amenorrhea arising from gonadal dysgenesis. This syndrome is distinguished by the manifestation of a female phenotype despite a 46, XY karyotype. We present the case of a patient aged 32 the second of three sisters; consulted for the first time with a main complaint of primary unexplored amenorrhea responsible for infertility of 1 year with a female phenotype and a male karyotype: 46XY. The laparoscopy performed revealed the presence of a small uterus (an unexpected finding for a feminizing testicular syndrome). The other sisters were respectively examined and found to have the same pathology as their sister and were eventually programmed to have a laparoscopy. 46XY pure gonadal dysgenesis, commonly known as Swyer syndrome, presents as a rare disorder in sexual development. Despite having a 46XY karyotype, affected individuals exhibit a female phenotype. The underlying cause is believed to stem from mutations and deletions affecting the Sex Determining Region Y (SRY) gene located on the short arm of the Y chromosome. Swyer syndrome should be considered in cases of primary amenorrhea with the presence of a uterus. Chromosomal analysis is essential for confirming the diagnosis.