Clinical features, laboratory results and TPO gene mutations in the two patients
| Patient | Sex | Age* (year) | Weight* (kg) centile | Length* (cm) centile | TSH* (mIU/L) | FT4* (pmol/L) | L-T4(μg/kg/day) initial/current | Thyroid morphology | TPO variations | variations in other genes | Clinical phenotype | Development/age (year) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Male | NS | 3.0 (10th–25th) | 47 (<3th) | >100 | 1.92 | 12/6 | Goitre | c.2422delT/c.2422delT | p.R683L/p.L1343F(DUOX2) | PCH | normal/3.1 |
| 2 | Male | 4.5 | 13.5 (<3th) | 98 (<3th) | >100 | 0.30 | 15/5 | Goitre | p.R648Q/p.T561M/p.T561M | no | PCH | physical and mental retardation/7.0 |
| Normal values | 0.27–10 | 12–22 |
*Age, Weight, Length, TSH, FT4 at diagnosis.
NS, Newborn Screening; PCH, permanent congenital hypothyroidism; TSH, thyroid-stimulating hormone.