Publication:

The hidden uterus in Swyer syndrome with gonadoblastoma: a diagnostic dilemma

Disorders of sex development (DSD) comprise a rare group of disorders in which genotype and phenotype are discordant. In 46 XY DSD, also known as Swyer syndrome, patients present a complete female phenotype and the 46 XY karyotype is usually identified during investigation for primary amenorrhea and/or delayed puberty. The risk of developing a gonadal tumor can be as high as 30%-40%. A 27-year-old phenotypically female with the complaints of primary amenorrhea with a pelvic mass presented to our setup. The case was approached applying the role of clinical, radiological and laboratory analyses. The final diagnosis of Swyer syndrome with gonadoblastoma was made. Karyotyping was done which revealed 46 XY set of chromosomes. Her FSH and LH levels were found to be elevated. Patient was explained about streak gonads. After surgical resection of tumor and gonadectomy, HRT was started. Primary amenorrhea is a common diagnostic challenge, wherein there are numerous causes that need to be approached in a systematic manner. However, when a case with a pelvic lump or a solid pelvic mass presents to a clinician, the approach becomes difficult to justify amenorrhea and pelvic mass as a single entity.