Table 2: SEGO protocol. Primary and secondary amenorrhea. Infrequent bleeding.
Mayer-rokitansky-küster-hauser syndrome | Complete androgen insensitivity syndrome | Complete gonadal dysgenesis | |
Phenotype | Female | Female | Female |
Genotype | XX | XY | XY |
Breast development | ++ | ++ | - |
Pubis/axillary hair | ++ | - | +/- |
Vagina | No/hypoplastic | Yes | Yes |
Uterus | No/rudimentary | No | Hypoplastic |
Gonads | Ovary | Testicle | Dysgenesis |
Testosterone | Low | Male level | Low |
LH | Normal | Normal | High |
FSH | Normal | Normal | High |
Estradiol | Normal | Low | Low |
Inheritance pattern | Occasional | X-Linked recess | Genetic heterogeneity |
Other anomalies | 30% renal, 12% skeletal |