Table 2.
Clinical characteristic of the 14 patients included in the case series.
| Patient | #1 | #2 | #3 | #4 | #5 | #6 | #7 | #8 | #9 | #10 | #11 | #12 | #13 | #14 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age (range) | 60–65 | 70–75 | 18–25 | 18–25 | 36–40 | 18–25 | 40–45 | 30–35 | 30–35 | 50–55 | 40–45 | 50–55 | 30–35 | 26–30 |
| Referral diagnosis | interf. | IST | TSHoma | RTHβ | interf | TSHoma | RTHβ | TSHoma | RTHβ | RTHβ | RTHβ | TSH-oma + GD | thyroiditis | interf |
| Ultimate diagnosis | TSHoma | TSHoma + ATA | interf | interf | TSHoma + GD | RTHβ | TSHoma | interf | interf | interf | interf | interf | TSHoma | RTHβ |
| diagnostic delay (months) | 36 | 12 | 24 | 24 | 60 | 36 | 24 | 36 | 24 | 24 | 12 | 6 | 15 | 28 |
| TSH uUI/ml | 5.65 | 1.2 | 2.1 | 2.77 | 1.290 | 1.3 | 3.1 | 1.25 | 0.81 | 2.8 | 2.43 | 0.57 | 2.75 | 1.58 |
| FT4 pmol/L | 24.5 | 25.6 | 48.7 | 23.1 | 23.3 | 35.3 | 41.6 | 34.4 | 23.2 | 36.1 | 22.4 | 62.5 | 17.6 | 26.8 |
| FT3pmol/L | 6.3 | 11.8 | 17.7 | 7.3 | 7.3 | 8.13 | 23 | 12.5 | 9.5 | 14.3 | 10.1 | 11.5 | 8.0 | 6.9 |
| SHBG nmol/L | 76* | - | 29.7** | 31** | 162.0* | NA | 166* | 80* | 131* | NA | 74* | 77* | – | |
| TRH test (TSH peak) | 7.84 | 2.5 | 7.32 | 9.7 | 1.7 | 10.3 | 27.3 | 11.8 | 8.7 | 18.8 | 20.9 | NA | 4.55 | 21.5 |
| T3 test (TSH) | – | – | – | 0.005 | 1.3 | – | 2.7 | 0.001 | 0.005 | – | – | – | 1.76 | – |
| TSH uUI/ml LAR* | 2.86 | 0.84 | 1.6 | 1.4 | 0.025 | – | 1.2 | – | – | – | – | – | – | – |
| FT4 pmol/L LAR* | 10.1 | 19.7 | 34.4 | 17.6 | 20.9 | – | 16.1 | – | – | – | – | – | – | – |
| FT3 pmol/L LAR* | 3.7 | 7.4 | 13.2 | 3.8 | 6.6 | – | 6.4 | – | – | – | – | – | – | – |
| Thyoid | NG | NG | NG | AITD | G, AITD | G | NG | Normal | Normal | Normal | Normal | NG | NG | AITD |
| Pituitary MRI | 12 mm | 8 mm | 3 mm | 3 mm | no | 3 mm | 4 mm | no | 7 mm | no | no | NA | 2 mm | 3 mm cyst |
| THRB gene | wt | wt | wt | wt | wt | R429Q | wt | wt | wt | wt | wt | NA | NA | M310V |
| Comorbidities | RCC | PAF | DMD | Lipodystrophy, hyper-insulinemia | GD | none | none | HT | HT | HT, PAF MGUS | HT | MGUS | – | Bipolar disorder |
| TSS (Y/N) | N | Y | N | – | N | Y | Y | – | – | – | – | – | Y | N |
| Histology | – | TSHoma | – | – | – | Normal pituitary | Pituitary adenoma | – | – | – | – | – | TSHoma | – |
| Cured | – | Y | – | – | – | – | Y | – | – | – | – | – | Y | – |
| Other therapies | SMS-LAR | – | SMS-LAR | – | MMI, SMS-LAR | – | HRT | – | beta-blockers | beta-blockers | Beta-blockers | – | – | Topiramate, TCAs |
interf., assay interference; HRT, hormonal replacement; NA, Not available; G, goiter; NG, nodular goiter; AITD, autoimmune thyroiditis; ATA, autonomous thyroid adenoma; SMS-LAR, long-acting-release somatostatin analog; MMI, methimazole; RCC, Renal cell carcinoma; PAF, paroxysmal atrial fibrillation; MGUS, monoclonal gammopathy of undetermined significance; DMD, Duchenne muscular dystrophy; GD, Graves' disease; HT, Hashimoto thyroiditis; TCA, tricyclic antidepressant; Pt variant, pathogenic variant in the THRB gene. *56 days after SMS-LAR, Reference ranges: SHBG:
**
Male 10–70;
*
Female 50–144; TSH 0.3–5.1 mU/L; FT4 10–20 pmol/L; FT3 4.2–7.5.