Table 2 The variants of the exon 11 of the LHCGR gene

1

c.1027 T > A (het)

p.C343S (het)

EC Domain

Pseudohermaphroditism (46, XY)

[7]

2

c.1060G > A(hom)

p.E345K

EC Domain

Pseudohermaphroditism (46, XY)

[8]

3

c.1103 T > C(het)

p.L368P

TM1

Male precocious puberty

[9]

4

c. 1126C > T(het)

p.A373V

TM1

Male precocious puberty

[10]

5

c.1121 T > C (hom)

p.I374T

TM1

Pseudohermaphroditism (46, XY)

[11]

6

c.1175C > T(hom)

p.T392I

IL1

Leydig cell hypoplasia & male pseudohermaphroditism

[11]

7

c.1192 T > C

p.T398M

TM2

Male precocious puberty

[12]

8

c.1199A > G (hom)

p.N400S

TM2

Empty follicle syndrome

[13]

9

c.1244 T > C (hom)

p.I415T

TM2

Leydig cell hypoplasia II

[14]

10

c.1370 T > G

p.L457R

TM3

Male precocious puberty

[15]

11

c.1395G > A (hom)

p.W465Term

IL2

Primary amenorrhea

[16]

12

c.1435C > T (hom)

p.R479Term

IL2

Primary amenorrhea

[17]

13

c.1448C > A (hom)

p.A483D

TM4

Pseudohermaphroditism (46, XY)

[18]

14

c.1473G > A (hom)

p.W491Term

TM4

Pseudohermaphroditism (46, XY)

[17]

15

c.1505 T > C (hom)

p.L502P

TM4

Pseudohermaphroditism (46, XY)

[19]

16

c.1573C > T (hom)

p.Q525Term

EC Domain

Primary amenorrhea

[17]

17

c.1624A > C (hom)

p.I542L

TM5

Male precocious puberty

[20]

18

c.1627 T > C

p.C543A

TM5

Pseudohermaphroditism

[20]

19

c.1627 T > C

p.C543A

TM5

Pseudohermaphroditism

[7]

20

c.1635C > A (hom)

p.545Term

TM5

Leydig cell hypoplasia

[21]

21

c.1660C > T(hom)

p.R554Term

IL3

Luteinizing hormone resistance

[3]

22

c.1691A > G

p.G564N

IL3

Male precocious puberty

[21]

23

c.1703C > T (hom)

p.A568V

EC Domain

Male precocious puberty

[9]

24

c.1713G > A

p. M571I

TM6

Male precocious puberty

[22]

25

c.1715C > T (het)

p.572A > V

TM6

Male precocious puberty

[23]

26

c.1723A > C (het)

p.I575L

TM6

Male precocious puberty

[21]

27

c.1730C > T

p.T577I

TM6

Male precocious puberty

[24]

28

c.1733A > G

p.A578G

TM6

Male precocious puberty

[25]

29

C1741T > C

p.C581A

TM6

Male precocious puberty

[25]

30

c.1757_1758del (het)

p.S586Ffs19

TM6

Infertility

[16]

31

c.1764dupT (hom)

p.A589Cfs17

TM6

Pseudohermaphroditism (46, XY)

[26]

32

c.1777G > C (hom)

p.A593P

TM6

Pseudohermaphroditism (46, XY)

[27]

34

c.1824_1829del (hom)

p.V609_L610del

TM7

Pseudohermaphroditism (46, XY)

[28]

35

c.1836 T > G (hom)

p.Y612Term

TM7

Pseudohermaphroditism (46, XY)

[29]

36

c.1847C > A (hom)

p.S616Y

TM7

Pseudohermaphroditism (46, XY)

[17]

37

c.1850delG (hom)

p.C617Lfs22

TM7

Pseudohermaphroditism (46, XY)

[4]

38

c.1874 T > A (hom)

p.I625K

TM7

Pseudohermaphroditism (46, XY)

[30]