TABLE 1.
Summary of patient phenotypes
| Patient no. |
Mutation | Age (yr) |
Height (SDS) |
Peak GH (μg/liter) |
IGF-I | Peak TSH (mU/liter) |
Basal prolactin (μg/liter) |
Peak (basala) cortisol (μg/dl) |
Peak LH (IU/liter) |
Peak FSH (IU/liter) |
Ocular phenotype |
Additional features |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | SOX2 deletion | 1.5 | −2.0 | 26.8 | +1 SDS | 23.5 | 12.1 | 24 | 3.5 | 7.8 | Right anophthalmia, left microphthalmia |
AP hypoplasia, thin corpus callosum, mild pulmonary stenosis, developmental delay |
| 2 | p.Q61X | 19 | −1.2 | ND | 264.6 ng/ml (215–885)b | ND | ND | 7.3a | 2.1 | 2.0 | Bilateral anophthalmia | Developmental delay, absence of pubertal development with HH, MRI not performed |
| 3 | c.70del20 | 14.5 | −1.31 | 14.1 (C), 10.2 (A) | 312 ng/ml (97–699)b | 12.3 | 24.6 | ND | 2.6 | 2.7 | Bilateral anophthalmia | Absence of pubertal development with HH |
A, Arginine; AP, anterior pituitary; C, clonidine; HH, hypogonadotropic hypogonadism; ND, not determined.
a
Basal value.
b
Normal range.