Table 1 Baseline characteristics, fertility aspects, and follow-up outcome of 51 patients with Peutz–Jeghers syndrome

Number of patients

26

25

51

Mucocutaneous pigmentation, n (%)

16/26 (61.54%)

16/25 (64.00%)

32/51 (62.75%)

Age of presentation, years (mean ± SD)

17.9 ± 15.4

20.7 ± 13.9

19.2 ± 14.6

Age at diagnosis, years (mean ± SD)

24.3 ± 14.8

24.2 ± 14.1

24.3 ± 14.3

First clinical symptoms, n (%)

 Pigmentation

10/26 (38.46%)

7/25 (28.00%)

17/51 (33.33%)

 Abdominal pain

6/26 (23.08%)

10/25 (40.00%)

16/51 (31.37%)

 Hematochezia

3/26 (11.54%)

4/25 (16.00%)

7/51 (13.73%)

Location, n (%)

 Stomach

12/26 (46.15%)

7/25(28.00%)

19/40 (47.50%)

 Colon

13/26 (50.00%)

9/25(36.00%)

22/40 (55.00%)

 Rectum

5/26 (19..23%)

4/25(16.00%)

9/40 (22.50%)

 Duodenum

6/26 (26.08%)

1/25 (4.00%)

7/40 (17.50%)

Polyp pathology, n (%)

 Hamartomatous polyps

12/26 (46,15%)

13/25 (52.00%)

25/51 (49.02%)

 Inflammatory polyps

1/26 (3.85%)

3/25 (12.00%)

4/51 (7.84%)

 Hyperplastic polyps

1/26 (3.85%)

2/25 (8.00%)

3/51 (5.88%)

 Adenomatous polyp

1/26 (3.85%)

1/25 (4.00%)

2/51 (3.92%)

 Adenocarcinoma

0

1/25 (4.00%)

1/51 (1.96%)

Recurrence rate of PJ polyp, n (%)

2/18 (11.76%)

1/17 (6.67%)

3/35 (9.38%)

Incidence of cancer,n (%)

3/18 (17.64%)

2/17 (13.33%)

5/35 (15.63%)

Mortality, n (%)

3/18 (17.64%)

1/17 (6.67%)

4/35 (12.50%)

Family history, n (%)

15/26 (57.69%)

6/25 (24.00%)

21/51 (41.18%)

Giving birth to affected offspring, n (%)

2/26 (7.69%)

3/25 (12%)

5/51 (9.8%)

Genetic testing performed, n (%)

2/26 (7.69%))

3/25 (12%)

5/51 (9.8%)

Fertility demand, n (%)

7/18 (30.77%)

6/17 (24.00%)

13/36 (25.49%)

Willing to perform PGT, n (%)

3/18 (11.15%)

4/17 (16.00%)

7/36 (13.73%)