Table 1.
Examples of 46,XY differences/disorders of sex development (DSD).
Condition | Incidence | Comment | Advantage in sports? |
---|---|---|---|
5α-reductase deficiency type 2 | Extremely rare with geographical regions of higher incidence | Individuals may be assigned female sex at birth. Virilization proceeds at puberty. | Yes |
Partial androgen insensitivity (PAIS) | 1/130,000 | Ambiguous genitalia at birth. From puberty, high testosterone, but with varying effect depending on androgen receptor sensitivity. | Possibly |
17β-hydroxysteroid dehydrogenase type 3 (17β- HSD3) deficiency | 1/147,000 | Individuals are often raised as girls but undergo virilization at puberty. | Yes |
Ovotesticular DSD | 1/100,000 | The individual has both ovarian and testicular tissue. Born with ambiguous genitalia. Virilization may proceed at puberty. | Possibly |