Table 1.
Hormonal values for the three patients
| 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 |
*after 1 mcg ACTH test.