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Table 1 Baseline evaluation and management in infancy and childhood

From: The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family

  Patient 1 Patient 2
Gender assignment at birth Female Female
Age at diagnosed of CAH 7 years 9 years
Degree of genital virilization at birth Prader stage 1 clitoromegaly (1 cm) Prader stage 2 clitoromegaly (1.5 cm)
Age at start of menarche 16 years irregularly 18 years irregularly
CAH genetics Compound heterozygote Compound heterozygote
CYP21A2 mutations P30L/I172N P30L/I172N
CAH classification at diagnosis Simple virilizing Simple virilizing
Steroid hormone results at the time of diagnosis of CAH—before treatment
 17-OHP (ref. 0.3–3) > 75 nmol/L > 75 nmol/L
 Testosterone (ref. 0.3–3) 29.8 nmol/L 19.6 nmol/L
 Urinary 17-ketosteroids (ref. 13.8–43.4) 88.7 dU/µmol 50.6 dU/µmol
 Urinary 17-corticosteroids (ref. 11.7–36.6) 46.8 dU/µmol 36.6 dU/µmol
Steroid hormone results—with hydrocortisone 20 mg/m2 treatment
 17-OHP 56.5 nmol/L 29.5 nmol/L
 Testosterone (ref. < 0.1–0.96) 2.8 ng/mL 3.2 ng/mL
 Urinary 17-ketosteroids 20 dU/µmol 32.3 dU/µmol
 Urinary 17-corticosteroids 18.8 dU/µmol 16.6 dU/µmol