Table 1 General information of the 10 cases

1

Female

16

secondary amenorrhea, secondary sex characteristics normal, infantile uterus, size 24 × 20 × 14 mm, uterine cavity linear, no obvious endometrium, and both ovaries were not detectable

2

Female

21

secondary amenorrhea, infantile uterus, size 32 × 25 × 20 mm, uterine cavity linear, left ovary likely size 19 × 15 × 12 mm, right ovary size 25 × 17 × 14 mm

3

Female

25

preprimary ovarian insufficiency, secondary amenorrhea, oral oestrogen sequential therapy, infertility for 1 year, uterus size 40 × 34 × 29 mm, endometrium 8 mm, left ovary likely size 19 × 20 × 16 mm, right ovary size 25 × 15 × 16 mm

4

Female

36

B ultrasonography indicated the foetus had tetralogy of Fallot, intense left heart spot, single umbilical artery and small kidneys, prenatal diagnosis from the amniotic fluid cells suggested that the karyotype of the foetus was 47,XN, +der(X)t(X;5)(p22.3;q32)mat

5

Female

34

early spontaneous abortion twice

6

Female

31

B ultrasonography indicated the foetus had short limbs, NIPT revealed sex chromosome abnormality, prenatal diagnosis from cells in the amniotic fluid suggested that the karyotype of the foetus was 46,Y,der(X)t(X;Y)(p22.3;q11.2)mat

7

Female

38

during first marriage a healthy girl was born, induced abortion 1 time and spontaneous abortion 1 time, infertility for 1 year during remarriage, uterus size 52 × 45 × 40 mm, endometrium 5 mm, left ovary size 26 × 20 × 16 mm, right ovary size 31 × 21 × 18 mm

8

Male

24

azoospermia

9

Male

32

azoospermia

10

Male

45

azoospermia