46,XY, or Swyer syndrome, is a complete gonadal dysgenesis. Patients usually presents with primary amenorrhea with underdeveloped secondary sex characteristics. Phenotypes of these patients are female. In this report, a Swyer syndrome case is reported with novel clinical features that are classified as connective tissue disorders. This case and the 2 other previously reported Swyer syndrome cases with ascendant aortic aneurysm and diaphragmatic hernia are suggest that the Y chromosome has an important role in the structure of connective tissue.

Here we report a case of a 17-year-old with clinical features of 46,XY complete gonadal dysgenesis including external female genitalia, hypoplastic uterus, hypergonadotrophic hypogonadism, incomplete secondary sex characterics, primary amenorrhea, and normal male karyotype. In addition, she had mild mental retardation, severe rotoscoliosis, pectus excavatus, spina bifida occulta, hip dislocation, and long, slender extremities. She had a rudimentary uterus and streak gonads; after giving her cyclic estrogen and progesterone pills, she was able to menstruate.

In this report, a Swyer syndrome case was discussed regarding clinical features, especially those are not characteristic for Swyer syndrome after a review of the literature.