Table 2.
Endocrine Phenotypes of Patients with SOX3 Mutation, Duplication, and Polymorphism[Note]
|
Concentration of |
||||||||||
| Pedigree(Nationality)and Patient | Age at Presentation(years) | Height SDSat Presentation | Weight SDSat Presentation | GH(ng/ml) | FT4(ng/dl) | TSH(μU/ml) | Prolactin(ng/ml) | Peak Cortisol(μg/dl) | Peak LH(IU/liter) | Peak FSH(IU/liter) |
| A (Finnish): | ||||||||||
| 1 | 7.0 | −2.8 | −.9 | 1.0 | 1.0 | 2.8 | 6.2 | 33.7 | 5.0 | 4.5 |
| 2 | .2 | −3.8 | −1.5 | 1.3 | .6 | .01 | 5.5 | 2.5 | .8 | .5 |
| B (Qatari): | ||||||||||
| 1 | 3.0 | −2.5 | NA | 1.7 | .5 | .08 | NA | 2.0 | U | U |
| 2 | 4.5 | −2.5 | NA | .7 | .7 | 3.3 | 7.3 | 3.9 | .5 | .5 |
| 3 | 2.7 | −1.3 | +.7 | .7 | .5 | 2.8 | NA | 3.2 | 1 | <1 |
| C (Ghanaian): | ||||||||||
| 1 | 0 | NA | −.9 | 2.2 | .7 | 4.7 | 34.8 | 1.8 | 1.1 | .6 |
Note.— NA = not available; U = undetectable. Normal ranges: peak GH >6.7 ng/ml, FT4 0.9–1.9 ng/dl, TSH 0.5–6.0 μU/ml, peak cortisol >19.8 μg/dl, and prolactin 5–25 ng/ml.