Sex Reversal Syndrome With 47, XYY Karyotype Case Report and Literature Review

The 47, XYY karyotype is a rare sex chromosome abnormality with a prevalence of about 1/1000 in newborn males. Sex reversal syndrome, also a rare sex chromosome abnormality, is extremely rare in the 47, XYY karyotype. Herein, we reported on 1 case of sex reversal syndrome with 47, XYY karyotype and reviewed available literatures. An 11-year-old child was admitted to our unit because of short stature with a height of 124 cm. Her birth and family history were unremarkable. She had female external genitalia with Tanner Stage I breast and external genital development. There were high basal luteinizing hormone and follicle-stimulating hormone levels (89 and 117 IU/L, respectively). Estrogen and testosterone levels were very low (all <20 ng/L). GH provocative tests showed normal GH secretion. Pelvic ultrasound showed gonadal dysgenesis with streak gonad in the right adrenal cavity. There was no uterus. She had normal bone age and borderline intellectual functioning. Cytogenetic analysis revealed a karyotype with 47, XYY pattern. Including this case, only 5 cases of sex reversal with 47, XYY chromosome pattern are reported. All these phenotypic females had gonadal dysgenesis, and 3 of the 5 had short stature. In summary, the sex reversal syndrome with 47, XYY karyotype is extremely rare. Unlike phenotypic males, phenotypic females are usually short and have gonadal dysgenesis.