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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