Table 1. Clinical manifestation of different AIS phenotypes.
| Phenotypes | Prevalence | AIS With AR mutation | External Genitalia | Clinical characterization | LH (U/L) |
FSH (U/L) |
Testosterone (ng/dl) |
|---|---|---|---|---|---|---|---|
 CAIS |
1:20,000 to 1:64,000 (9) | 85% (5) | Female | Absent or rudimentary Wolffian duct derivatives; Absence or presence of epididymides and/or vas deferens; Inguinal or labial testes; Short blind-ending vagina; Scant or absent pubic and/or axillary hair (8). |
14-43 (15) | 3.5-16 (15) | 186-1,033 (15) |
 PAIS |
1:130,000 (10) | < 30% (5) | Predominantly female | Clitoromegaly and labial fusion, sinus urogenitalis with a wide opening, short, blind-ending vagina; Slight signs of androgen effects: slight clitoromegaly or partial labial fusion, distinct urethral and vaginal opening (8). | 9-32 (15) | 1.1-34 (15) | 157-1,592 (15) |
| Ambiguous | Microphallus with clitoris-like underdeveloped glans, labia majora like bifid scrotum, perineoscrotal hypospadias; Additional sinus urogenitalis with a short, blind ending vagina (8). | ||||||
| Predominantly male | Clitoromegaly and labial fusion, sinus urogenitalis with a wide opening, short, blind-ending vagina; Slight signs of androgen effects: slight clitoromegaly or partial labial fusion, distinct urethral and vaginal opening (8). | ||||||
 MAIS |
NA | 18% (7) | Male | Impaired spermatogenesis and/or impaired pubertal virilization (8). | 2.7-25 (14) | 0.6-50 (14) | 141-2,047 (14) |
AIS: androgen insensitivity syndrome. PAIS: partial androgen insensitivity syndrome. MAIS: mild androgen insensitivity syndrome. CAIS: complete androgen insensitivity syndrome. LH: luteinizing hormone. FSH: follicle-stimulating hormone. NA: not available.