Abstract
The genetic aberration causing 46,XY gonadal dysgenesis, or Swyer syndrome, results in the complete sex reversal of the affected individual— who has normal female external genitalia and Mullerian structures. A 15-year-old girl (patient 1) presented with primary amenorrhea and no breast development but Tanner stage 3 pubic hair development. Her endocrine profile suggested primary gonadal failure and cytogenetic analysis revealed a 46,XY karyotype. Laparoscopic gonadectomy revealed a rudimentary uterus with normal fallopian tubes and streak gonads bilaterally. Family history taking allowed identification of a maternal second cousin and a maternal great aunt who also had a 46,XY karyotype, suggesting X-
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