Abstract

Introduction: Swyer syndrome is characterized by female phenotype, complete gonadal dysgenesis with the existence of Mullerian structures specifically the uterus, fallopian tube, and vagina, meanwhile individual with androgen insensitivity syndrome (AIS) demonstrate Wolffian structures internally and presence of male gonads. Both syndromes fall under 46,XY disorders of sex development (DSD) and are at risk of developing gonadoblastoma. The coexistence of Swyer syndrome and AIS occurring simultaneously is an extremely rare occasion, hence we present this case. Case report: 19-years-old, single, and nulliparous female presented with secondary amenorrhea at the age of 16-years-old. She attained menarche at the age of 12-years-old. She had one sister who had primary amenorrhea and passed away at the age of 22-years-old due to dysgerminoma. Clinically she is tall with height of 173 cm, normal female secondary sexual characteristics. Hormonal level demonstrated gonadal insufficiency with markedly elevated FSH and LH, and low estradiol and normal testosterone. MRI pelvis revealed small uterus with presence of gonad at right adnexal region. Karyotype confirmed as 46,XY in two occasions. SRY gene were detected using Fluorescence In Situ Hybridisation (FISH) method. Androgen mutation analysis revealed mutation in exon 1 [NG_009014.2:g.6286_6288GC dup(GCA)₂]. Laparoscopic gonadectomy were performed and the right gonad was confirmed as dysgerminoma with gonadoblastoma and serous cystadenoma. Discussion: To the best of our knowledge this is the first case of coexistence of Swyer and AIS syndrome reported. This case demonstrates to us how crucial the role of karyotype analysis in a situation of a young female with amenorrhea which can give us diagnostic clue and further targeted management. This case may raise a suspicion of possibility of familial or inherited condition which need further evaluation. DSD should be co-managed by multidisciplinary team.

Keywords: Swyer syndrome, Androgen insensitivity syndrome, 46,XY female, Dysgerminoma, Gonadoblastom