Table 1.
Reference | Clinical Diagnosis(es) | n | Age at Gonadectomy | AR Sequencing Performed | Germ Cells Present | Precursor Lesions | Malignant Tumors |
---|---|---|---|---|---|---|---|
Morris7 | Testicular feminization | 80 | 12-51 Years | * | * | * | 6/80: Seminoma, alveolar carcinoma, malignant teratoma, pelvic sarcoma, and malignant arrhenoblastoma |
Morris and Mahesh26,† | Testicular feminization | 181 | Postpubertal | * | * | * | 11/50: Seminoma |
Dewhurst et al27 | Androgen insensitivity (AIS) | 82 | Before puberty to older than 30 years | * | * | * | 0/82 |
Dewhurst et al15 | AIS, PAIS | 66 (44 CAIS; 22 PAIS) | Younger than 15 to older than 30 years | * | * | * | 0/44 CAIS; 1/12 PAIS: seminoma |
Manuel et al19 | Testicular feminization | 23 | * | * | * | * | 0/23 |
Muller21 | CAIS, IAIS | 12 (4 CAIS; 8 IAIS) | 2 Months to 19 years | * | 50% | 3/12 | Carcinoma in situ |
Hurt et al22 | AIS | 1 | 14 Years | * | * | * | Seminoma |
Rutgers and Scully23 | CAIS, IAIS | 43 (40 CAIS; 3 IAIS) | 16-83 Years CAIS‡; 14-47 years PAIS | * | 28% CAIS; 0% PAIS | * | 3/40 CAIS: seminomas and sex cord tumor; 0/3 PAIS |
Ahmed et al28 | CAIS, PAIS | 278 (173 PAIS; 105 CAIS) | 14 Years (0.1-18)§ | Yes‖ | * | * | 0/278 |
Hannema et al24 | CAIS | 44 | 5.5 Years (1-13)¶ | Yes | 95% | 2/44 | Carcinoma in situ |
Purves et al25 | CAIS | 16 | 18.2 Years (2-21) | * | * | * | 0/16 |
Kravarusic et al14 | CAIS, PAIS | 11 (6 CAIS; 5 PAIS) | 3-8 Years‡ | * | * | * | 0/6 CAIS; 2/5 PAIS: bilateral seminoma, gonadoblastoma |
Liu et al16 | Gonadal dysgenesis, CAIS, PAIS | 102 (30 CAIS; 18 PAIS) | 20.7 Years (16-34)‡ | * | * | 0/48 | 9/30 CAIS: gonadoblastoma; 3/18 PAIS: gonadoblastoma |
Kaprova-Pleskacova et al18 | CAIS | 19 (36 Gonads) | 3 Months to 18.5 years‡ | Yes | 84% | 6/13 | Precursor lesion types not reported; 1/13: intratubular germ cell neoplasia |
Cools et al3 | CAIS, PAIS | 52 (42 CAIS; 10 PAIS) | 17.5 Years (14-54)¶ | Yes | 64% CAIS 88% PAIS | 7/52 | Precursor lesions types not reported; 0/52 in situ tumors |
AIS, androgen insensitivity syndrome; IAIS, incomplete androgen insensitivity syndrome; AR, androgen receptor; CAIS, complete androgen insensitivity syndrome; PAIS, partial androgen insensitivity syndrome.
Not reported or unknown.
Literature review of cases.
At clinical presentation.
Sixty-six percent of CAIS cases had gonadectomy before puberty, 29% postpubertal, 5% unknown age; 39% of PAIS cases had gonadectomy before puberty, 9% postpubertal, and 52% unknown age.
In a subset of cases; 51 CAIS, 114 PAIS.
Median.