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Table 1 Hormonal values for the three patients

From: The novel p.Cys65Tyr mutation in NR5A1gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency

Patient, age (yr)

Clinical presentation

Testosterone (nmol/L)

FSH (IU/L)

LH (IU/L)

Estradiol (nmol/L)

Cortisol (nmol/L)

ACTH (pmol/L)

Patient 1

       

0.75

Micropenis and perineal hypospadia

1.04 (pre hCG) 6.59 (after hCG)

11.90

2.80

-

-

-

11

Started spontaneuous puberty

   

-

  

13

Tanner IV

12.87

27.25

11.96

-

  

14

Tanner IV-V

15.89

23.51

10.95

-

376.46

7.08

15

Tanner IV-V

16.79

21.60

16.13

-

261.80

16.10

      

421.60*

 

Patient 2

       

0.17

Micropenis and penoscrotal hypospadia

7.63

4.85

10.00

-

-

-

6

Tanner I

0.66

1.15

<0.10

-

576.01

7.06

7

Tanner I

0.66

1.51

<0.10

-

195.61

14.87

      

572.49*

 

Patient 3

       

0.17

Micropenis, perineal urogenital opening and bilateral cryptorchidism

0.66 (pre hCG) 6.94 (after hCG)

4.62

0.20

-

-

-

5

Tanner I

-

-

-

-

820.27

9.99

6

Tanner I

0.66

2.60

<0.10

-

300.21

12.61

      

613.10*

 

Mother

       

32

Irregular menses

-

13.81

7.05

176.22

218.31

7.37

33

Irregular menses

-

48.88

19.83

109.11

388.70

9.66

      

645.33*

 

Normal range

 

Newborn: 2.43-13.88

Male: 1.50-12.40 Female (menopause): 25.80-134.80 Children: 0.20-3.80

Male: 1.70-8.60 Female (menopause): 7.70-58.85 Children: 0.20-1.40

Female (menopause): <200.75

8 a.m.: 138.00-690.00 ≥ 551.80*

<10.12

Children: <5.89

Puberty:

Tanner I - <0.69

Tanner II - <14.92

Tanner III – 2.25- 27.07

Tanner IV – 6.47-26.37

Tanner V – 6.59-30.54

  

Male 18–49 yrs: 8.64-29.01

     
  1. *after 1 mcg ACTH test.