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Table 3 Clinical characteristics and molecular findings of POI patients carrying potential causative variants

From: Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing

Patients ID

Menarche age (year)

POI onset age (year)

Hormone values

Gene

FSH (lU/L)

LH (ng/mL)

P03

13

34

89,53

0,010

USP9X, DACH2

P04

12

34

98,19

0,016

XPNPEP2

P05

14

16

44,23

0,674

LHCGR

P08

13

15

139,25

0,041

AIRE

P09

11

39

51,48

0,092

DAZL

P10

16

24

63,57

1,212

FMR1

P11

11

25

106,59

0,144

EIF2B4

P12

17

33

45,10

0,169

EIF2B4

P14

12

39

72,46

0,010

DACH2

P18

12

37

76,40

0,016

POLG

P19

14

39

70,86

0,169

XPNPEP2

P20

14

39

48,30

0,092

GDF9, POLG

P22

13

34

51,12

1,285

EIF2B2

P23

11

39

140,93

0,169

GALT

P24

12

36

133,90

0,041

ATM, NOBOX

P26

12

39

44,04

0,092

ATM, GALT, NOBOX

P29

15

36

43,10

0,169

GALT

P31

11

28

55,20

0,373

EIF2B4, GALT

P32

11

37

65,10

0,041

GALT

P36

13

29

59,68

0,100

DAZL

P37

11

33

60,27

0,900

HS6ST2

P38

17

24

44,28

0,050

HS6ST2

P39

14

30

47,53

0,850

HS6ST2

P40

13

31

59,19

0,145

EIF2B4, NOBOX

P42

14

38

80,70

0,592

AIRE

P44

10

27

61,86

1,230

GALT

P45

12

30

80,00

0,900

GALT

P48

14

32

63,20

0,530

GALT

  1. FSH/LH levels were measured at time of POI diagnosis.