Table 1.
Baseline endocrinology and auxology (hemizygotes)
| Case ID | Age years | BW (kg) (SDS) | Height, cm (SDS) | BMI (kg/m2) (SDS) | TSH mU/L (0.3‐5.5) | fT4 (pmol/L) | fT3 (pmol/L) | PRL (Z score) | IGF1 (Z score) | Testo (8‐29 nmol/L) | FSH:LH (Adults) (0.4‐3.4) | Hypothyroid Signs |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1a | 75.5 | Estimated BW 4.5 kg | 181 (0.66) | 32.1 | 1.22 |
6.9
(12‐22) |
3.9 (3.5‐6.5) |
−1.4 | 1.1 | 12.7 | 2.9 | Obesity |
| 1b | 56.3 | NA |
175 (−0.2) |
35.9 a | 0.97 |
8.9
(12‐22) |
NA | 0.7 | −0.5 | 10.7 | 2.6 | Fatigue, obesity, dyslipidaemia |
| 1c | 69.1 | NA |
172 (−0.63) |
31.8 | 1.59 |
8.1
(12‐22) |
NA | −2.2 | −0.5 | 6.7 | 3.2 | Fatigue, obesity |
| 3a | 7.4 | 4.7 kg (+2.49) |
125.4 (+0.21) |
19.8 (+2.09) | 0.89 |
10.2
(12‐22) |
3.9 (3.1‐6.8) |
−3.4 | −1.2 | ‐ | ‐ | Transient neonatal jaundice, obesity, (improved with diet) decline in growth velocity aged 7 |
| 2.2 |
0.9 (+0.36) |
23.95
(+4.2) |
||||||||||
| 3c | 2.3 |
4.48 kg
(+ 2.06) |
90.8 (+0.21) |
20.6
(+2.92) |
2.8 |
8.3
(12‐22) |
5.1 (3.1‐6.8) |
−2.2 | −1.0 | ‐ | ‐ | Persistent neonatal jaundice (6 mo), speech delay, obesity |
| 3d | 4.6 |
1.81kgb
(−4.32) |
109 (+0.71) |
16.1 (+0.28) |
2.88 |
9.3
(12‐22) |
4.0 (3.1‐6.8) |
−2.0 | −1.4 | ‐ | ‐ | Nil |
| 3e | 2.6 |
2.77 kgb
(−1.48) |
93.7 (+0.71) |
18.5 (+1.9) |
2.07 |
9.7
(12‐22) |
4.5 (3.1‐6.8) |
−3.0 | −1.4 | ‐ | ‐ | Nil |
| 3g | 5 wk |
4.5 kg
(+2.1) |
50.7
(−2.22) |
NA | 3.31 |
7.6
(12‐22) |
5.4 (3.1‐6.8) |
0.8 | −0.9 | ‐ | ‐ | Nil |
| 3hc | 14.2 |
3.73 kg (+0.54) |
142
(−3.1) |
22 (+0.65) |
1.38 |
9.9
(12.6‐21) |
4.2 (3.9‐7.7) |
−1.2 | −2.2 | 0.3 | ‐ | Growth retardation |
| 3i | 12.1 |
3.58 kg (+0.22) |
135.2
(−1.86) |
22.1 (+1.67) |
1.69 |
9.7
(12.6‐21) |
4.6 (3.9‐7.7) |
−1.3 | −2.0 | <0.2 | ‐ | Growth retardation, neonatal hypothermia |
Normal Ranges are defined in brackets and denote minimum‐maximum for FSH:LH ratio, which is shown for adults only. BW, Birth weight; PRL, prolactin; Testo, Testosterone.
Abnormal values are highlighted in bold. Where multiple sets of thyroid hormone measurements were available, tabulated values refer to a representative set of measurements obtained prior to commencing levothyroxine treatment.
BMI aged 74 y.
Maternal renal transplant prior to pregnancy.
Also had growth hormone deficiency, diagnosed aged 14.5 y, which may have influenced growth.