Table 1 Summary of clinical data and genetic test results for three cases

Age (year)

26

21

23

Height (cm)

148

168

150

Weight (kg)

44

57

54

Mainly complaints

Primary infertility

Menstrual disorders, secondary amenorrhea

Primary infertility

Sex horm-ones

FSH(IU/L) (2.5–10.2)

7.34

68.9↑

3.4

LH(IU/L) (1.9–12.5)

4.34

24.2

5.1

T (ng/ml) (0.1–0.5)

0.03↓

0.23

0.18

E2(pg/ml) (19.5–144.2)

45.03

 < 11.8↓

102.3

P (ng/ml) (0.15–1.40)

0.26

0.59

15.29

PRL(ng/ml) (2.8–29.2)

10.48

8.7

14.9

AMH(ELISA)(ng/ml) (2.5–6.3)

1.96↓

 < 0.06↓

3.97

Ultrasound

Normal uterus (4.3 × 4.5 × 4.4 cm); both ovaries are normal, and left ovaries has 2–3 follicles inside, maximum diameter 0.7 cm; normal bilateral fallopian tubes

Small uterus (the diameter of uterus is 2.4 cm), the endometrial thickness is about 0.15 cm (single layer); bilateral streak ovaries

Normal uterus (3.6 × 4.0 × 4.1 cm); both ovaries are normal; non-visualized bilateral fallopian tubes (surgical removaled)

History of pregnancy and childbirth

G0P0

G0P0

G0P0

Family

Some family members have short stature, the mother and cousin’s G-banding karyotypes are same as that of the patient, while the father and sister’s karyotype are normal

Parents are consanguineous, with normal phenotypes, and normal G-banding karyotype

The mother had the same karyotype as the patient; and had three miscarriages. The father, sister and two uncles had normal G-banding karyotype,

Genetic test results

46,X,der(X)t(X;Y)(p22.33;q12)mat.arr[GRCh38]Xp22.33 (251888_1772154) × 1(1520 kb)

46,X,der(X)t(X;Y)(q21.2;q11.2)dn.arr[GRCh38]Xq21.2q28(86025630_155714301) × 1,Yq11.222q12(18443276_26653507) × 1

46,X,der(X)t(X;Y)(q28; q11.223)t(Y;Y)(q12;q11.223)mat. arr[GRCh38]Xq28(155077922_155700385) × 1,Yq11.223q12(21924024_26653507) × 2