Sex | Age (year) | Clinical presentations | Biochemical tests | AQP2 | CYP21A2 | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Renin (μIU/ml) | Aldosterone (ng/dl) | 17-OHP (ng/ml) | ACTH (pg/ml) | Cortisol (μg/dl) | 24-h urine osmolality | c.439G >A, p.A147T in Exon2 | c.1069C >T,p.R357W in Exon8 | c.1360C >T, p.P454S in Exon10 | ||||
Father | M | 44 | normal | 64 | 8 | 0.56 | 51.25 | 12.1 | 855 | het | het | het |
Mother | F | 40 | PCOS with menstrual irregularity and mild hirsutism | 86 | < 3.7 | 2.01 | 25.73 | 8.8 | 737 | het | homo | homo |
S-1 | F | 7 | Clitoromegaly, polyuria, polydipsia | 115 | < 3.7 | 6.3 | 10 | 9.6 | 87 | homo | homo | homo |
621a | 54a | 0.51a | 5.15a | 22.6a | ||||||||
S-2 | F | 11 | normal | 47 | < 3.7 | 1.87 | 34.65 | 9.3 | 473 | wt | homo | homo |
S-3 | F | 13 | normal | 161 | 20 | 0.51 | 13.5 | 7.4 | 800 | wt | wt | wt |
Normal range | 5.3–99 | 3.7–43.7 | 0.2–0.9 | 10–60 | 6.2–19.4 | 500–800 mOsm/kg of water |