Table 2 Childhood PASACT case report summary
First author, year (ref.) | Age at diagnosis | Sex | Signs and symptoms | Tanner stage | Testosterone (nmol/L) | Tumor size | Laterality | Invasion in surrounding tissue | Adenoma or carcinoma | Genetics/Ki67 index/histological grading | |
|---|---|---|---|---|---|---|---|---|---|---|---|
1 | Burr, 1973 [5] | 1 year 8 months | F | Increased labial size, labial hair | A1P3M1 | 1.49 (elevated) | 2 × 1.5 × 0.5 cm | L | No | NR | NR |
2 | Richards, 1983 [6] | 2 years 0 months | F | Deepening voice, acne, labial hair | A1P2M1 | 14.11 (< 0.69) | 3.5 cm | R | No | A | NR |
3 | Kamilaris, 1987[7] | 15 years | F | Primary amenorrhea, facial hair, acne, deepening voice | P4M1 | 12.2 (0.69–3.47) | 2 × 2.5 cm | R | No | A | NR |
4 | Sorgo, 1988 [8] | 12 years 10 months | F | Deepening voice | P4M5 | 7.28 (0.35–2.43) | 1 × 2 cm | L | No | C | NR |
5 | Muenstere, 2001 [10] | 6 years | M | Growth acceleration, gynecomastia, pubic hair | P3G3 | 16.02 (< 0.69) | 2 cm | L | No | A | NR |
6 | Bavdekar, 2001 [9] | 11 months | F | Pubic hair | A1P2M1 | 9.71 (0.52–3.29) | 4.4 × 4.6 cm | R | No | C | NR |
7 | Valerio, 2003 [11] | 4 years 4 months | M | Pubic hair, penile growth | A1P2G3 | 3.81 (< 0.69) | 40 g | L | NR | A | NR |
8 | Miyoshi, 2009 [12] | 6 years 6 months | M | Facial acne, growth acceleration, facial acne | A1P3G3 | 7.56 (elevated) | 5.5 × 4.1 cm | R | No | C | No TP53 mutation/Ki67 8%/Weisse 4 |
9 | Kumar, 2010 [13] | 3 years | M | Penis growth, pubic hair, deepening voice, axillary hair | A2P2G3 | 33.63 (0.42–1.11) | 6.8 × 4.7 cm | L | No | C | Genetics NR/Ki67 NR/Weisse high grade |
10 | Choukair, 2013 [14] | 2 years 4 months | F | Pubic hair, clitoral hypertrophy, growth acceleration | A1P3M1 | 7.08 (< 0.69) | 1.3 cm L ectopic at renal hilus and 0.5 cm R adrenal | L + R | No | A | Genetics NR/Ki67 2 to 5%/Grade NR |
11 | Rodriguez-Gutiérrez, 2013 [15] | 18 years | F | Hirsutism, clitoral hypertrophy, deepening voice, primary amenorrhea | A2P6M1 | 15.01 (0.21–2.84) | 10 × 11 cm | L | No | A | NR |
12 | Marret, 2014 [17] | 2 months | F | Pubic hair, growth acceleration | A1P3M1 | 1.66 (< 0.17) | 1.7 × 0.9 × 1.1 cm | R | No | Unclear | No TP53 mutation |
13 | Kim, 2015 [16] | 8 years 2 months | M | Penis growth, pubic hair, facial acne | P2G3 | 13.24 elevated | 7.8 × 6.1 × 4.0 cm | R | No | C | No TP53 mutation/Ki67 30%/Weisse 6 |
14 | Ersoy, 2017 [18] | 4 years | F | Pubic hair, facial acne | P2M2 | 2.33 (< 0.026) | 5.5 × 4 cm | L | No | A | NR |
15 | Kafi, 2019 [19] | 4 years | M | Penis growth, pubic hair, facial acne | P3G3 | Not mentioned | Not mentioned | R | NR | NR | NR |
16 | Proband (present study) | 2 years 7 months | M | Penis growth, erections, pubic hair, growth acceleration | A1P4G3 | 29.1 (< 0.01) | 2.6 × 2.3 × 3.1 cm | L | No | A | Heterozygous TP53 mutation/Ki67 < 15%/Wieneke 0 |