Table 2 Hormonal levels and family history of 25 patients with familial DSD

1

1 d

2.7

0.7^b

<0.4^b

178^b

2348^b

mother (premature menopause (27 years) in sister of his mother)

2

7 d

0.3

1.5

<0.4

186

794

mother (DSD in brother, sister and nephew)

3

3 d

0.2

<0.4

<0.4

>400

>600

mother (brother of case 2)

4

3 d

4

5.5

0.8^b

1.3^b

ND

614^b

father (secondary infertility)

5^a

3 d

0.1

0.1

0.4

<3

<1

father (infertility in 2 female cousins)

6

4 d

<0.07

<0.07

3.3

11

<10^b

1^b

father (premature menopause (38 years) in cousin)

7^a

14 d

0.1

0.25

0.2

3.9

ND

mother (DSD in one nephew, congenital heart disease; brother with micropenis and cryptorchidism)

8^a

23 d

0.2

0.9

0.3

1.8

78^b

mother (premature menopause (28 years)

9

0.1 y

2

3.6

2.2

272

955

mother (hypospadias in each son of her 2 sisters)

10

0.1 y

2.1

3.2

2.4

176

630

father (cryptorchidism)

11

0.1 y

0.1

4.6

0.92

179

865

mother (brother of cases 2 and 3)

12

0.3 y

1.2

0.9

1

590

1674

father (hypospadias)

13

0.4 y

1

2.4

0.7

347

1129

mother (brother DSD, nephew hypospadias) father (unilateral cryptorchidism and 2 meatus urinarus in brothers)

14

5 y

0.7

1

14

1136

brother (hypospadias)

15

0.8 y

0.02

<0.4

0.6

175

1042

father (cryptorchidism)

16

0.8 y

<0.05

<0.4

<0.4

253

1245

mother (half brother of case 24)

17^a

1.5 y

<0.05

<0.05

1.7

45

ND

mother (DSD in uncle)

18

1.8 y

<0.4

<0.4

94

485

father (hypospadias in brother)

19

3 y

<0.07

<0.2

0.47

77

1086

father (hypospadias in brother)

20

3.5 y

<0.07

3.3

ND

father (infertility in one sister and in paternal grandmother)

21

3.9 y

0.6

97

593

father (unilateral cryptorchidism as in cousin)

22

7.6 y

ND

44

719

brother (hypospadias)

23

10 y

1.1

1.6

<0.2

1.5

ND

37

brother (left cryptorchidism)

24

13.6 y

1.2

0.9

0.5

217

64

mother (half brother of case 16)

25

15 y

10.3

4.6

4.3

157

165

mother (uncle of cases 2, 3, 11)