Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data
Table 2
Characteristics comparison of gene subgroup included cases.
DUOX2/DUOXA2
TG/TPO
PAX8/TSHR/FOXE1/NKX2-5
TCH (n = 90)
PCH (n = 63)
PCH (n = 39)
TCH (n = 1)
PCH (n = 41)
Continent
<0.001
Africa
0
0
0
0 (0.00%)
1 (2.44%)
Asia
82 (91.11%)
51 (80.95%)
14 (35.90%)
1 (100.00%)
21 (51.22%)
Europe
4 (4.44%)
11 (17.46%)
24 (61.54%)
0 (0.00%)
15 (36.59%)
South America
4 (4.44%)
1 (1.59%)
1 (2.56%)
0 (0.00%)
4 (9.76%)
Sex
0.291
Male
45 (51.14%)
32 (59.26%)
10 (52.63%)
0 (0.00%)
17 (41.46%)
Female
43 (48.86%)
22 (40.74%)
9 (47.37%)
1 (100.00%)
24 (58.54%)
Thyroid morphology
<0.001
Normal
28 (33.73%)
17 (32.69%)
5 (13.51%)
0 (0.00%)
11 (29.73%)
Goiter/enlarged
55 (66.27%)
34 (65.38%)
32 (86.49%)
0 (0.00%)
1 (2.70%)
Small volume/ectopy
0 (0.00%)
1 (1.92%)
0
1 (100.00%)
25 (67.57%)
Type of mutation
<0.001
Single missense mutation
18 (20.00%)
17 (26.98%)
5 (12.82%)
0 (0.00%)
31 (75.61%)
Single non-missense mutation
33 (36.67%)
18 (28.57%)
19 (48.72%)
1 (100.00%)
4 (9.76%)
Dual-site mutations
34 (37.78%)
23 (36.51%)
15 (38.46%)
0 (0.00%)
6 (14.63%)
Multisite mutations
5 (5.56%)
5 (7.94%)
0
0
0
Mutation state
<0.001
Heterozygous
43 (47.78%)
26 (41.27%)
16 (41.03%)
1 (100.00%)
32 (78.05%)
Homozygous
8 (8.89%)
9 (14.29%)
8 (20.51%)
0 (0.00%)
3 (7.32%)
Compound heterozygous
39 (43.33%)
28 (44.44%)
15 (38.46%)
0 (0.00%)
6 (14.63%)
Mutation location
0.001
Monoallelic
43 (47.78%)
28 (44.44%)
21 (53.85%)
1 (100.00%)
32 (78.05%)
Biallelic
47 (52.22%)
35 (55.56%)
18 (46.15%)
0 (0.00%)
9 (21.95%)
Combinational heterozygous cases who harbored mutations of two different genes were not analyzed. was 0.016 in the comparison of area between TCH and PCH in the DUOX2 subgroup, while was observed in other unmarked comparisons. was calculated for the characteristics comparison of all patients with CH in the three gene subgroups. TCH: transient congenital hypothyroidism; PCH: permanent congenital hypothyroidism.
