PMC9950495_01
Literature review inclusion process.
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This study included 13 articles (Figure 1) that were first published in 2001 and recently published in 2022.
Patients' age distribution.
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There was no significant difference in the number of patients under 25 years old (four patients) and over 56 years old (two patients) (Figure 2).
(A) Geographical country distribution ratio among the patients (%). (B) Continent distribution ratio among the patients (%).
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Portugal (Figure 3A). Patients were grouped according to the distribution of the continents, and Asia accounted for the largest proportion of patients (43.75%), followed by the Americas (18.75% in North America and 12.5% in South America). No cases have been reported in Oceania or Africa (Figure 3B).
(A) Schematic representation of THRbeta1 and its gene mutations. (B) Schematic representation of THRbeta2 and its deletion from amino acids 340 to 385.
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THRbeta2 (135 bp deletion) that caused hormonal dysregulation and hormone resistance (Figure 4B). The details of the gene mutations in the 16 patients are shown in Table 2. THRbeta1 is shown in Figure 4A.