Table 1.
Sexual development and differentiation in Turner Syndrome
| Genotype | Phenotype |
|---|---|
| 45,X | Sexual infantilism (90%) |
| Normal puberty and menses (10%) | |
|
| |
| 45,X mosaic (without Y) (46,XiXq, 46,XX, 47,XXX, 46,X,del(Xp)) | Sexual infantilism (30–58%) |
| Normal puberty and spontaneous menarche (70%)* (Sybert7) | |
| Normal puberty and spontaneous menarche (42%); only half (21%) had consistent menses in adulthood (Lippe et al8) | |
|
| |
| 45,X/46,XY mosaic with: | |
| Bilateral intraabdominal streak gonads | Sexual infantilism |
| Intraabdominal streak + intraabdominal testis | Clitoromegaly |
| Intraabdominal streak + scrotal testis | Sexual ambiguity |
| Bilatral scrotal testes | Normal male with infertility |
*
Ovarian and menstrual function may be short-lived indicating a high degree of gonadal dysfunction.