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Table 1 Clinical characteristics of five 17α-hydroxylase deficiency cases. Serum cortisol, ACTH, FSH, LH, testosterone, estradiol and progesterone were measured using chemiluminescent immunoassays. Plasma renin activity and aldosterone were determined by the radio-immunity method

From: Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population

Clinical information

Patient 1

Patient 2

Patient 3

Patient 4

Patient 5

Normal value

Age (years old)

15

14

13

12

13

 

Social Gender

Female

Female

Female

Female

Female

 

Blood pressure (mmHg)

134/96

169/136

158/105

165/120

187/127

 

Blood potassium (mmol/l)

4.29

3.52

3.32

2.96

2.7

3.5–5.5 mmol/l

Plasma renin activity(laying)

0.2

0.2

NA

0.2

0.2

0.15–2.33(ng.ml)/h

Plasma renin activity (standing)

0.2

0.2

0.2

0.2

0.2

0.1–6.56(ng/ml)/h

Aldosterone(laying)

79.9

103

NA

111

127

30-160 pg/ml

Aldosterone (standing)

68.1

108

81.4

133

158

70-300 pg/ml

ARR

34.05

54

40.7

66.5

79

 

AngiotensinII (laying)

34.3

44.9

NA

39.6

87.2

30-160 pg/ml

AngiotensinII (standing)

50.9

51.9

50.2

51.6

96.3

70-300 pg/ml

Blood cortisol (0 am)

0

0.01

0.01

0.3

NA

0

Blood cortisol (8 am)

0.32

0.3

0.01

0.6

0.033

6.7–22.6μg/dl

Blood cortisol (4 pm)

0.04

0.19

0.11

0.4

0.015

3.35–11.3μg/dl

Blood ACTH (0 am)

16.2

12.4

13.7

41.1

NA

pg/ml

Blood ACTH (8 am)

90.1

84.5

33.6

373

168.5

12-46 pg/ml

Blood ACTH (4Pm)

16.2

12.4

13.7

41.1

86.9

6-23 pg/ml

E2

12.19

9.36

0.01

17.1

4.14

Children:male0–41 IU/L, female0–50 IU/L

PROG

11.4

14.25

7.43

13.46

10.55

0–1.2 IU/L

TESTO

0.25

0.24

0.1

0.17

0.01

Children:male0.45–2.26 IU/L, female0.03–1 IU/L

FSH

69.06

67.76

76.86

31.53

117.27

Children:male0-10 IU/L; femal0-15 IU/L

LH

26.42

29.81

26.25

10.14

59.38

Children:male0-12 IU/L, female0-15 IU/L

T3

5.68

5.87

5.49

7.22

NA

3.5–6.5 pmol/l

T4

15.6

17.53

16.46

19.44

NA

11.5–22.7 pmol/l

TSH

1.846

1.946

3.447

1.033

NA

0.55–4.78uIU/ml

Urine microalbuminuria(mg/l)

> 150

12.87

439.19

NA

NA

< 150 mg/l

Urine protein

+

NA

+

NA

 

Urine protein(24 h)

0.1

NA

NA

NA

NA

0–1.5 g/24 h

Hypertension Fundus changes

Positive

Negative

Positive

Negative

NA

 

Chromosome karyotype

46XY

46XX

46XX

46XY

46XX

 

SRY

Positive

Negative

Negative

Positive

Negative

 

Pelvic MRI

No uterus and ovaries

uterus and ovaries

uterus and ovaries

No uterus and ovaries

uterus and ovaries

 

mutation

c.985_987delinsAA

(p.Y329Kfs)

c.1459_1467 (p.487_489del)

c.987delC p.Y329

c.985_987delinsAA (p.Y329Kfs)

c.985_987delinsAA (p.Y329Kfs)

c.985_987delinsAA (p.Y329Kfs)

 

homozygote

heterozygote

homozygote

homozygote

homozygote

heterozygote

 
  1. NA not available, E2 estradiol, TESTO testosterone, PROG Progesteron