Table 2. Summary of the long-term consequences of AIS.
| Long-term outcomes | CAIS | PAIS | MAIS |
|---|---|---|---|
| Malignant disease | Incidence rate (31,34): 1-2% in CAIS. | Incidence rate (32): > 15% in PAIS. | NA |
| Cause (33): the low rate of germ cell tumor in CAIS could be attributed to the rapid reduction of the germ cell population after the first year of life. | Cause (35): untreated patients have a risk of up to 50% for undescended gonads, while the risk of scrotal testes remains unknown. | NA | |
| Low bone mineral density and fractures | Outcome (37): the final height of CAIS and PAIS individuals was greater than the average height of women and lower than the average height of men. | NA | |
| Fracture rates among patients with CAIS who underwent gonadectomy ranged from 2% to 27% (36,38). | NA | ||
| Infertility, subfertility | No reported cases of biological fertility (14,39). | Usually infertility (14). | Fertility ay occur spontaneously or be induced through androgen treatment (14). |
| Gynaecomastia, hypospadias and short vagina | Patients with CAIS and phenotypically female individuals with PAIS have a short, blind-ending vagina (40). | All individuals with AR mutation develop gynecomastia; hypospadias cases with AR mutation are more likely to require additional surgical treatment than hypospadias cases without an AR mutation (41). | NA |
| Impaired metabolism and cardiovascular disease | Higher prevalence of obesity (16.7% vs. 3.6%), 56% higher total cholesterol, 33% higher low-density lipoprotein-cholesterol, 16% higher triglycerides, and 47% higher HOMA-Index (42). | ||
| Mental disorder | Both PAIS and CAIS patients had lower quality of sexual life (43,46). | NA | |
| Patients with CAIS had a 5-fold higher risk of psychiatric disorders than the general population, a 3-fold higher risk of mood disorders, a 4-fold higher risk of anxiety disorders, and a 20-fold higher risk of obsessive-compulsive disorder (44). | Male PAIS patients often present with psychiatric and psychological problems due to clinical symptoms of poor virilization (45,47). | NA | |
NA: not available.