Table 1 Clinical characteristics of the four families harboring the TSHR G431S mutation
Number in pedigree | Reference | T 4 and T 3 (% upper limit) | Preterm birth (<37 wks) | Developmental problems (IQ test, speech delay) | Prominent eyes | Treatment (Age) | Age of diagnosis | F/M | |
|---|---|---|---|---|---|---|---|---|---|
Family 1 | I-1 | [9] | N.a. | N.a. | N.a. | N.a. | Tx (15 y) | Youth | F |
Family 1 | II-1 | N.a. | N.a. | N.a. | Yes | PTU, Tx (7 y) | 4 y | M | |
Family 1 | III-1 (proband) | FT4 = 275% FT3 = 293% | Yes, 36 | N.a. | Yes, mildly | PTU, Tx (7 y) | 3 y | M | |
Family 2 | II-2 | [17] | N.a. | N.a. | N.a. | N.a. | Tx | When IV-1 was diagnosed | N.a. |
Family 2 | III-1 | N.a. | N.a. | N.a. | N.a. | Tx (18 y) | 17 y | M | |
Family 2 | III-3 | N.a. | N.a. | N.a. | N.a. | Tx (15 y) | 13 y | F | |
Family 2 | IV-1 | FT4 > 128% FT3 = 156% | No | N.a. | N.a. | MMI (7.5 y) Tx (8.4 y) | 5 y | M | |
Family 3 | B1 | [6] | FT4 = 133% FT3 = 217% | N.a. | N.a. | N.a. | MMI, RAI (12 y) | 5 y | M |
Family 3 | B2 | FT4 = 204% FT3 = 199% | N.a. | N.a. | N.a. | MMI, RAI (15 y) | 7 y | F | |
Family 3 | Father | N.a. | N.a. | N.a. | N.a. | MMI | Hyperthyroidism in more than 15 years | M | |
Family 4 | (I-1) | N.a. | N.a. | No | No | RAI (18 y), Tx (after 3. child) | 16 y | F | |
Family 4 | II-1 | TT4 = 189% TT3 = 305% | No | Hyperactive behaviour which diminished after treatment | Yes | MMI, RAI (8 y) | 8 | M | |
Family 4 | II-2 (propositus) | TT4 = 146% TT3 = 195% | No | Hyperactive behaviour which diminished after treatment | Yes | MMI, RAI (4.5 y) | 4.5 y | M |