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. 2023 May;12(2):71–77. doi: 10.5582/irdr.2023.01024

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.