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 |