Table 1 Hormonal phenotypes of the patients including siblings of case 4
From: Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes
Case 1 | Case 2 | Case 3 | Family 4 | ||||
|---|---|---|---|---|---|---|---|
(IV/1) | (IV/5) | (IV/6) | (IV/12) a | ||||
Age (yrs) | 11.5 | 40 | 3.5 | 14 | 34 | 31 | 17 |
Sex (m/f) | m | m | m | f | m | m | m |
Gene mutated | POU1F1 | PROP1 | PROP1 | PROP1 | PROP1 | PROP1 | PROP1 |
GH, basal (μg l−1) | NA | <0.05 | NA | <0.05 | <0.05 | 0.40 | 0.40 |
GH, stim. (μg l−1) | <0.20 | 0.21 | <1.00 | NA | NA | NA | NA |
TSH (mIU l−1) | <0.50b | 0.38 0.94b | 1.15 (0.3–2.5) | 0.01 (0.3–2.5) | <0.005 (0.3–2.5) | 0.39 (0.3–2.5) | 0.01 (0.3–2.5) |
T4 | |||||||
Total T4 (nmol l−1) | <10 (60–150) | NA | NA | NA | NA | NA | NA |
Free T4 (pmol l−1) | NA | 2.19 (12–25) | 5.57 (10–23) | NA | NA | NA | NA |
LH (IU l−1) | 0.30 (0.5–5.3) | <0.10b (>3.0) | <0.07 (<0.5) | 0.89 (0.5–9.0) | 0.70 (1.5–9.3) | 0.10 (1.5–9.3) | 0.10 (0.5–5.3) |
FSH (IU l−1) | 1.30 (0.4–6.6) | 0.20b (>4.9) | <0.07 (<2.2) | 0.10 (1.4–9.2) | 0.20 (0.3–8.5) | 4.45 (0.3–8.5) | 0.10 (1.4–9.2) |
ACTH (pmol l−1) | 6.82 (1.6–14.2) | 3.06 (1.6–13.9) | NA | 2.21 (1.6–14.2) | 8.43 (1.6–14.2) | 6.21 (1.6–14.2) | 4.71 (1.6–14.2) |
Cortisol (nmol l−1) | 500.0b (>500) | 537.6b (>500) | 766b (>500) | NA | NA | NA | NA |
PRL (mIU l−1) | 2.1 (85.6–322.2) | 42.4 (84.0–315.0) | 74.2 (25.44–634.5) | 92.4 (63.6–305.3) | 106.6 (85.6–322.2) | 122.9 (85.6–322.2) | 25.4 (85.6–322.2) |
MRI, anterior pituitary | Hypoplastic | Hypoplastic | Hypoplastic | Near normal | NA | Enlarged | Near normal |
