Clinical presentation of the studied subjects
| Patient/sex | IV.1/F | IV.2/F | III.6/F | III.7/F | II.1/F | III.4/F | II.4/F | III.10/F |
| Phenotype | RSS | None | RSS | RSS | RSS | RSS | none | IUGR |
| Genotype | c.836G>[G;T] | WT | c.836G>[G;T] | c.836G>[G;T] | c.836G>[G;T] | c.836G>[G;T] | WT | WT |
| Term at birth (weeks of amenorrhea) | 40 | 40 | 42 | 41 | At term | 39 | At term | 41 |
| Birth length in cm/SDS # | 43.5/−4.1 | 48/−1.7 | 44/−3.9 | 43/−4.6 | SGA | 43/−4.2 | n.a. | 47/−2.5 |
| Birth weight in grams/SDS # | 2330/−2.5 | 3270/−0.5 | 2110/−2.9 | 1980/−3.3 | SGA | 1920/−3.3 | 2850/n.a | 2640/−2.0 |
| Head circumference in cm/SDS | 31.5/−3.4 | 35/−0.1 | 33/−2.2 | 31/−4.2 | n.a. | 32.5/−2.1 | n.a. | 33.5/−1.7 |
| Height at 2 years/SDS # | 75/−3.0 | 86,5/0.7 | 76/−2.7 | 76/−2.7 | n.a. | 75/−3.0 | n.a. | 77/−2.4 |
| BMI at 2 years/SDS # | 13.2/−2.6 | 16.7/0.4 | 15.6/−0.6 | 13.5/−2.3 | n.a. | 14.4/−1.6 | n.a. | 15.6/−0.6 |
| Head circumference at 2 years/SDS | 48.5/0.7 | 49/1.1 | 48.5/0.7 | 48/0.3 | n.a. | 47/−0.5 | n.a. | 46/−1.2 |
| Final height/SDS | n.a. | n.a. | 147/−2.9 | 157/−1.1 | 145/−3.3 | n.a. | 158/−0,9 | 147/−2.9 |
| Relative macrocephaly # | + at 2 years | − | + at birth and at 2 years | + at 2 years | n.a. | + at birth and 2 years | − | − |
| Prominent forehead during infancy | + | − | + | + | + | + | + | − |
| Triangular face | + | − | + | + | + | + | − | − |
| Feeding difficulties during infancy # | − | − | − | − | − | + | − | − |
| Body asymmetry # | − | − | − | − | − | − | − | − |
| RSS criteria1 | 4/5 | not SGA | 3/5 | 4/5 | n.a. | 4/5 | not SGA | 1/5 |
| Cortisol* (basal/peak) µg/dL | 13.4/36.1 | 12.1 | 8.9 | 15.4 | 12.5 | 18.9/28.8 | n.a. | n.a. |
| ACTH† pg/mL | 10 | 15 | 9 | 7 | 13 | 12 | n.a. | n.a. |
| Growth hormone therapy | + | 0 | + | + | 0 | + | 0 | + |
| Other therapy | 0 | 0 | 0 | Triptorelin cyproterone acetate | 0 | Triptorelin | 0 | 0 |
#RSS criteria according to1; BMI at the age of two and below −2 SDS and feeding difficulties during infancy were considered as a unique positive criteria. n.a.: data not available.
*Normal range for basal cortisol: 6.0–17.0 µg/dL; normal cortisol peak when >25.0 µg/dL.
†Normal range for basal ACTH: 4.7–48.8 pg/mL.