Table 1. Clinical findings of affected individuals.
| III.1 | II.3 | III.4 | |
|---|---|---|---|
| Developmental history | |||
| IUGR | + | + | + |
| Failure to thrive | + | + | + |
| Walking (months) | 16 | 24 | 22 |
| Mild learning difficulties | + | + | + |
| Good verbal skills | + | + | + |
| Orchidopexy for undescended testis | + | + | + |
| Age at examination | 35 years | 59 years | 29 years |
| Height in cm (SD) | 149 (−4 SD) | 150 (−4 SD) | 157.5 (−2.5 SD) |
| Head circumference in cm (SD) | 54 | 56 | 55 |
| Small hands and feet | + | + | + |
| Dysmorphic features | + | + | + |
| Small testes | + | + | + |
| Testicular volume | < 1 ml | < 0,5 ml | <4 ml |
| Endocrine investigation | |||
| FSH (1,5–14 mUI/ml) | 65.2 | 16.4 | 21.7 |
| LH (1,2–10 mUI/ml) | 23.68 | 11.94 | 3.7 |
| Testosterone (2,5–10 ng/ml) | 2.67 | 0.54 | 1.30 |
| Inhibine B (80–400 pg/ml) | <15 | <15 | <10 |
| IGF1 (100–247 ug/l) | 182 | 97 | 118 |