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Table 1 Clinical and genetic analysis of a patient with concomitant 21-hydroxylase deficiency and nephrogenic diabetes insipidus

From: Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling

  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  
  1. aunder hydrocortisone treatment at 15 mg/m2/day