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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