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 |