p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche
Table 1
The characteristics of patients with defined variants in the CYP21A2 gene.
No
Gender
Referring age (years)
Family history
Clinical characteristics
Nt. change
AA change
Location
Zygoisty/module
Pubic hair stage
Bone age
Height/cm
Height SDS
Weight/Kg
Weigh SDS
BMI
BMI SDS
BA/CA
Axillary
F1 (μg/dL)
17-OHP (nmol/L)
T (ng/dL)
AE (ng/dL)
DHEA (μg/L)
ACTH-stimulation pg/mL
LH
FSH
E2
1
F
6, 2 m
No
II
7
109
−1.369
17
−1.314
14.3
−0.665
1.12
I, adult odor
3
4.5
NA
3
400
1, 5, 2
0.6
1
2, 6, 10
c.844 G > T
p.Val281Leu
Exon7
Hom/tri
2
M
8, 6 m
+
II
12
140
1.725
46
3.169
23.46
2.992
1.41
II
19
17.5
—
1.7
284
17, 21, 25
0.6
1.5
—
c.844 G > T
p.Val281Leu
Exon7
Hom/tri
3
M
6, 10 m
No
I
6, 6 m
122
0.23
23
0.164
15.45
0.004
1.08
No
5
1.2
0.1
0.8
200
0.3, 1.5, 4
1
1.4
—
c.844 G > T
p.Val281Leu
Exon7
Hom/tri
4
M
5
No
II
7
108
-0.423
20
0.639
17.14
1.335
1.4
Adult odor
5
4
—
3
200
5
6
3
0.3, 1
c.-296T > C
—
5′UTR
Hom
c.-295A > C
5′UTR
Hom
c.-284A > G
5′UTR
Hom
c.-282T > G
5′UTR
Hom
c.-196T > C
5′UTR
Hom/bi
5
F
6, 11 m
No
No
9
130
1.774
31.5
2.064
18.64
1.594
1.3
II
3
13
—
7.9
—
—
0.3
1
—
c.955 C > T
p.Gln318X
Exon8
Het
c.844 G > T
p.Val281Leu
Exon7
Het/tri
6
F
7, 0 2 m
+
III
7, 10 m
126
0.588
42.2
3.286
26.58
3.759
1.09
No
10
0.9
0.15
0.5
350
NA
0.3
1
5
c.-296T > C
—
5′UTR
Het
c.-295A > C
5′UTR
Het
c.-284A > G
5′UTR
Het
c.-282T > G
5′UTR
Het
c.-196T > C
5′UTR
Het/bi
7
F
7, 3 m
No
II
7
124
0.316
24
0.269
15.61
0.088
0.96
II
11
1
0.2
1.5
200
3, 7, 10
0.9
1
5
c.-296T > C
—
5′UTR
Het
c.-295A > C
5′UTR
Het
c.-284A > G
5′UTR
Het
c.-196T > C
5′UTR
Het/bi
8
F
7
No
IV
11
143
2.932
33.6
1.732
16.43
0.417
1.42
II, adult odor
6
0.3
0.1
0.4
250
NA
0.2
2
8
c.-296T > C
—
5′UTR
Het
c.-447A > G
5′UTR
Het/tri
9
F
6, 5 m
No
II
6
122
0.758
22
0.231
14.78
−0.349
0.92
No
5
1
—
1.3
180
—
0.9
1
5
c.844 G > T
p.Val281Leu
Exon7
Het/tri
10
F
5, 6 m
No
II
9
123
2.195
31.5
3.047
20.82
2.707
1.64
Adult odor over height
6
3.05
—
1
1000
0.5, 5.0, 5.7
1
1
—
c.844 G > T
p.Val281Leu
Exon7
Het/tri
11
F
9
No
III
10
135
0.408
33.5
0.975
18.38
1.02
1.11
I
—
0.1
—
—
700
0.1, 1, 4
0.5
3.5
15
c.955 C > T
p.Gln318X
Exon8
Het/tri
12
F
8, 5 m
NA
II
11
140
1.852
35
1.605
17.86
0.957
1.3
II
—
0.1
—
—
—
0.1, 2, 9, 32
0.5
3.0
50
c.955 C > T
p.Gln318X
Exon8
Het/tri
13
F
7, 6 m
No
II
10, 9 m
146
3.962
35
2.223
16.42
0.49
1.43
I
NA
1
NA
2
300
NA
NA
NA
NA
c.955 C > T
p.Gln318X
Exon8
Het/tri
14
M
7
+
II
9
140
3.453
30
1.825
15.31
−0.128
1.28
I
10.5
0.2
0.01
0.9
300
0.2, 1.3, 2.3, 4.6
6.5
1.0
—
c.955 C > T
p.Gln318X
Exon8
Het/tri
T: testosterone (NR: 3–10 ng/dL); AE: androstenedione (NR: 0.28–1.75 ng/dL); E2: estradiol; F1: cortisol (NR: 5–23 μg/dL); F: female; M: male; Het: heterozygote; Hom: homozygote; DHEA: dehydroepiandrosterone (NR: 3–83 μg/L); ACTH: adrenocorticotropic hormone (NR: 25–100 pg/mL); 17-OHP: 17 α-hydroxyprogesterone (NR: 0.2–2.3 nmol/L); LH: luteinizing hormone; FSH: follicle-stimulating hormone; B : breast; Tes: testicular enlargement, m = months, NA = not available, BA/BC = bone age/bone chronological age. According to human genome variation nomenclature, the naming is p.Gln319Ter, which is routinely used as p.Gln318Ter as previously named; and p.Val282Leu is named as p.Val281Leu.
