Table 1 Clinical findings of the patients

From: A novel C-terminal truncating NR5A1 mutation in dizygotic twins

 

Patient 1

Patient 2

Physical findings at birth

 Birth weight (g)

2,614

2,574

 Birth length (cm)

45.7

45.7

 Penile length (mm)

11 (−3.6 s.d.)

6 (−4.6 s.d.)

 Hypospadias

Urethral opening at the proximal penile shaft

Urethral opening at the proximal penile shaft

 Scrotum

Bifid scrotum

Bifid scrotum

 Gonads

Bilateral testes in the upper part of scrotum

Bilateral testes in the upper part of scrotum

 Müllerian structures

Absent

Absent

Endocrinological findings

 At birth

LH (mIU/ml)

≦0.10

≦0.10

FSH (mIU/ml)

0.10

0.11

Testosterone (ng/ml)

1.84 (0.66±0.42)

1.06 (0.66±0.42)

ACTH (pg/ml)

69.1 (7.2–63.3)

308 (7.2–63.3)

Cortisol (μg/dl)

14.0 (6.2–19.4)

19.0 (6.2–19.4)

 Two months after birth

Basal

Peak

Basal

Peak

LH (mIU/ml)a

5.53 (1.20–7.90)

14.70

≦0.10 (1.20–7.90)

2.01

FSH (mIU/ml)a

8.41 (0.80–5.70)

17.13

3.44 (0.80–5.70)

15.89

Testosterone (ng/ml)b

1.37 (0.84–4.78)

3.75 (3.67–13.77)

≦0.03 (0.84–4.78)

≦0.03 (3.67–13.77)

Cortisol (μg/dl)c

14.3 (6.2–19.4)

17.7 (≧20.0)

6.94 (6.2–19.4)

23.6 (≧20.0)

  1. Abbreviations: ACTH, adrenocorticotropic hormone; FSH, follicle stimulating hormone; LH, luteinizing hormone.
  2. The conversion factor to the SI unit: LH 1.0 (IU/l), FSH 1.0 (IU/l), testosterone 3.47 (nmol/l), ACTH 0.22 (pmol/l) and cortisol 27.6 (nmol/l).
  3. Reference values in normal boys are shown in parentheses.
  4. Hormone values below the reference ranges are boldfaced and those above the reference ranges are italicized.
  5. a LH releasing hormone stimulation test (100 μg/m2 bolus i.v.; blood sampling at 0, 30, 60, 90, and 120 min).
  6. b Human chorionic gonadotropin stimulation test (3,000 IU/m2 i.m. for 3 consecutive days; blood sampling on days 1 and 7).
  7. c ACTH stimulation test (250 μg/m2 i.v.; blood sampling at 0, 30, and 60 min).
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