Details of the Six Screening Discordant Twin Pairs Whose Proband Was Diagnosed With Transient Hypothyroidism After Reevaluation of the Diagnosis
| Twin Pairs . | Follow-Up, y . | Sex . | Zygosity . | CH Diagnosis . | Perm/Trans CH . | NGS Analysis . |
|---|---|---|---|---|---|---|
| PB8 | 11 | F | MZa | Normal | Trans | • No DNA |
| CT8 | F | MZa | Normal | Healthy | • No DNA | |
| PB9 | 11 | M | DZ | Normal | Trans | • WT |
| CT9 | M | DZ | Normal | Healthy | • WT | |
| PB10 | 4 | F | DZ | Normal | Trans | • GLIS3 p.E515D MAF 0.002 |
| CT10 | M | DZ | Normal | Healthy | • WT | |
| PB11 | 5 | F | DZ | Normal | Trans | • DUOX2 p.A728T MAF 0.0078 |
| • SLC26A4 IVS6+4bp A>C MAF ND | ||||||
| • PAX8 p.K135R MAF 0.0002 | ||||||
| CT11 | F | DZ | Normal | Healthy | • WT | |
| PB12 | 16 | F | DZ | Normal | Trans | • No DNA |
| CT12 | M | DZ | Normal | Healthy | • No DNA | |
| PB13 | 11 | F | UNZ | Normal | Trans | • No DNA |
| CT13 | F | Normal | Healthy | • No DNA |
| Twin Pairs . | Follow-Up, y . | Sex . | Zygosity . | CH Diagnosis . | Perm/Trans CH . | NGS Analysis . |
|---|---|---|---|---|---|---|
| PB8 | 11 | F | MZa | Normal | Trans | • No DNA |
| CT8 | F | MZa | Normal | Healthy | • No DNA | |
| PB9 | 11 | M | DZ | Normal | Trans | • WT |
| CT9 | M | DZ | Normal | Healthy | • WT | |
| PB10 | 4 | F | DZ | Normal | Trans | • GLIS3 p.E515D MAF 0.002 |
| CT10 | M | DZ | Normal | Healthy | • WT | |
| PB11 | 5 | F | DZ | Normal | Trans | • DUOX2 p.A728T MAF 0.0078 |
| • SLC26A4 IVS6+4bp A>C MAF ND | ||||||
| • PAX8 p.K135R MAF 0.0002 | ||||||
| CT11 | F | DZ | Normal | Healthy | • WT | |
| PB12 | 16 | F | DZ | Normal | Trans | • No DNA |
| CT12 | M | DZ | Normal | Healthy | • No DNA | |
| PB13 | 11 | F | UNZ | Normal | Trans | • No DNA |
| CT13 | F | Normal | Healthy | • No DNA |
Abbreviations: ND, not determined; Perm, permanent; Trans, transient.
Zygosity ascertained by means of questionnaire.
Details of the Six Screening Discordant Twin Pairs Whose Proband Was Diagnosed With Transient Hypothyroidism After Reevaluation of the Diagnosis
| Twin Pairs . | Follow-Up, y . | Sex . | Zygosity . | CH Diagnosis . | Perm/Trans CH . | NGS Analysis . |
|---|---|---|---|---|---|---|
| PB8 | 11 | F | MZa | Normal | Trans | • No DNA |
| CT8 | F | MZa | Normal | Healthy | • No DNA | |
| PB9 | 11 | M | DZ | Normal | Trans | • WT |
| CT9 | M | DZ | Normal | Healthy | • WT | |
| PB10 | 4 | F | DZ | Normal | Trans | • GLIS3 p.E515D MAF 0.002 |
| CT10 | M | DZ | Normal | Healthy | • WT | |
| PB11 | 5 | F | DZ | Normal | Trans | • DUOX2 p.A728T MAF 0.0078 |
| • SLC26A4 IVS6+4bp A>C MAF ND | ||||||
| • PAX8 p.K135R MAF 0.0002 | ||||||
| CT11 | F | DZ | Normal | Healthy | • WT | |
| PB12 | 16 | F | DZ | Normal | Trans | • No DNA |
| CT12 | M | DZ | Normal | Healthy | • No DNA | |
| PB13 | 11 | F | UNZ | Normal | Trans | • No DNA |
| CT13 | F | Normal | Healthy | • No DNA |
| Twin Pairs . | Follow-Up, y . | Sex . | Zygosity . | CH Diagnosis . | Perm/Trans CH . | NGS Analysis . |
|---|---|---|---|---|---|---|
| PB8 | 11 | F | MZa | Normal | Trans | • No DNA |
| CT8 | F | MZa | Normal | Healthy | • No DNA | |
| PB9 | 11 | M | DZ | Normal | Trans | • WT |
| CT9 | M | DZ | Normal | Healthy | • WT | |
| PB10 | 4 | F | DZ | Normal | Trans | • GLIS3 p.E515D MAF 0.002 |
| CT10 | M | DZ | Normal | Healthy | • WT | |
| PB11 | 5 | F | DZ | Normal | Trans | • DUOX2 p.A728T MAF 0.0078 |
| • SLC26A4 IVS6+4bp A>C MAF ND | ||||||
| • PAX8 p.K135R MAF 0.0002 | ||||||
| CT11 | F | DZ | Normal | Healthy | • WT | |
| PB12 | 16 | F | DZ | Normal | Trans | • No DNA |
| CT12 | M | DZ | Normal | Healthy | • No DNA | |
| PB13 | 11 | F | UNZ | Normal | Trans | • No DNA |
| CT13 | F | Normal | Healthy | • No DNA |
Abbreviations: ND, not determined; Perm, permanent; Trans, transient.
Zygosity ascertained by means of questionnaire.
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