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Table 1 Clinical characteristics of 25 patients with familial DSD

From: Familial forms of disorders of sex development may be common if infertility is considered a comorbidity

Case

Sex

Age at first evaluation

Presentation

Prader

Localization of the meatus

Genital tubercle (mm)

Testosterone dose (mg)

Gonad

      

before

after

 

Right

Left

1

M

1 d

genital ambiguity

IV

penoscrotal

15×7

30×12

4×25

s

i

2

M

1 d

genital ambiguity

IV

glandular

20×10

 

4×50

s

s

3

M

3 d

genital ambiguity

IV

penoscrotal

25×10

 

4×50

np

np

4

M

3 d

genital ambiguity

IV

penoscrotal

20×8

30×10

4×25

i

i

5a

F

3 d

prenatal karyotype

0

normal

   

np

np

6

F

4 d

prenatal karyotype

I

normal

   

np

np

7a

M

7 d

genital ambiguity

IV

penoscrotal

13

22×15

3×30

i

i

8a

M

21 d

genital ambiguity

III

penoscrotal

15×10

30×15

4×40

s

s

9

M

0.1 y

hypospadias

IV

penoscrotal

30×25

  

s

s

10

M

0.1 y

hypospadias

IV

penoscrotal

30×10

  

s

s

11

M

0.1 y

genital ambiguity

IV

penoscrotal

20×10

28×10

4×37.5

s

s

12

M

0.3 y

hypospadias

IV

distal

35×15

  

s

s

13

M

0.4 y

genital ambiguity

IV

midshaft

25×10

 

3×50

s

s

14

M

0.6 y

hypospadias

IV

penoscrotal

40×15

  

s

s

15

M

0.8 y

hypospadias

IV

penoscrotal

35×15

 

3×50

i

i

16

M

0.9 y

hypospadias

IV

midshaft

40×20

  

s

s

17a

F

1.5 y

genital ambiguity

III

penoscrotal

5×5

  

np

np

18

M

1.8 y

hypospadias

IV

glandular

35×10

  

i

s

19

M

3 y

hypospadias

V

midshaft

45×15

  

s

s

20

F

3.5 y

genital ambiguity

II

glandular

18

  

i

np

21

M

3.9 y

hypospadias

IV

glandular

50×15

  

i

s

22

M

7.6 y

hypospadias

IV

glandular

45×15

  

s

s

23

M

10 y

hypospadias

V

penoscrotal

40×12

  

i

i

24

M

13.6 y

genital ambiguity

IV

penoscrotal

75×35

  

np

np

25

M

15 y

genital ambiguity

IV

midshaft

65×25

  

i

i

  1. DSD disorders of sex development, i inguinal, s scrotal, np not palpable
  2. aGenetic mutations
  3. Cases 2,3,11 are brothers and case 25 is their maternal uncle. Cases 16 and 24 have the same mother (see pedigree)