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Table 1 Medical history timeline where auxological parameters during the first 2 years of life and biochemical and hormonal values are summarized.

From: Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report

Chronologic Age (years)

38 + 2 weeks of GA (Birth)

40 + 2 weeks of GA (hospital admission)

0.3

0.47

0.6

0.8

1.2

1.77

2.1

Length (cm) (°p)a

/

/

57.6 (1.6)

62.3 (1.5)

65.9 (5)

70 (10)

76 (16)

82.6 (17)

85.3 (18)

Weight (Kg) (°p)a

2.505 (5)

2.450 (<< 3)

4.81 (< 3)

5.66 (< 3)

6.46 (< 3)

7.51 (3–10)

9.47 (47)

11 (57)

12.2 (53)

Head Circumference (cm)

/

/

39

41

42.5

44

46

47

48

Pubertal Stage (testicular volume)

/

P1,G1,A0 (1 ml bilateral)

P1,G1,A0 (1 ml bilateral)

P1,G1,A0 (1 ml bilateral)

P1,G1,A0 (1 ml bilateral)

P1,G1,A0 (1 ml bilateral)

P1,G1,A0 (1 ml bilateral)

P1,G1,A0 (2 ml bilateral)

P1,G1,A0 (2 ml bilateral)

ACTH (pg/ml)

/

91.4

/

124.9

/

300

83.1

40.6

81.6

Cortisol

/

13.7

/

4.4

5.2

7.4

19.4

13.2

19.5

Aldosterone (pg/ml)

/

38.6

/

55.9

45.2

21.5

16.7

16.4

15.2

Renin (μU/ml)

/

44,100

/

181.2

/

123.6

5.6

2.5

23.4

17 OH progesterone (ng/ml)

/

4.4

/

/

/

0.4

/

0.1

0.1

Na (mEq/L)

/

110

138

134

139

139

140

138

139

K (mEq/L)

/

7.5

5.7

4.9

5

4.2

4.8

4.5

4.3

DHEA-S (μg/ml)

/

1.09

/

/

/

0.03

/

< 0.02

< 0.02

Testosterone (ng/ml)

/

/

/

/

/

0.2

/

/

< 0.1

Treatment

/

Fludro-cortisone

50 mcg/day

+ NaCl 11.6%

1 ml × 7/day

Fludro-cortisone 100 mcg/day

+ NaCl11.6%

1 ml × 7/day

Fludro-cortisone 100 mcg/day

+ NaCl11.6%

1 ml × 7/day

Fludro-cortisone 100 mcg/day

+ NaCl11.6%

1 ml × 7/day

Started Hydro-cortisone 10 mg/m2/day

+Fludro-cortisone 100 mcg/day

+ NaCl11.6%

1 ml × 7/day

Hydro-cortisone 10 mg/m2/day + Fludro-cortisone 100 mcg/day +

NaCl11.6% 1 ml × 7/day

Hydro-cortisone 10 mg/m2/day +Fludro-cortisone 100 mcg/day +

NaCl11.6% 1 ml × 7/day

Hydro-cortisone 10 mg/m2/day +Fludro-cortisone 100 mcg/day +

NaCl11.6% 1 ml × 7/day

  1. aPercentiles referred to the WHO growth charts for male infants (https://www.who.int/childgrowth/standards/en/)