Table 1. Anthropometric and biochemical data
Subject IDSexGestational age (weeks)Birth weight (kg)Birth length (cm)Age at examination (years)Height (cm)BMI (kg/m2)HC (SDS)
Family 1
II.1F372.19 (−1.49)48.0 (−0.07)10.3132.2 (−1.10)13.9 (−1.52)−2.03
II.2F393.35 (0.44)51.0 (0.94)7.8129 (0.87)14.8 (−0.98)+0.02
II.3M351.99 (−1.27)45.0 (−0.55)5.7110.4 (−0.96)13.4 (−2.03)−2.19
II.4F403.64 (0.96)50.0 (0.11)3.6103.3 (1.62)15.6 (−0.44)−0.98
Family 2
II.1F403.26 (−0.61)48.3 (−1.30)22.2149.3 (−2.16)24.9 (0.76)0.45
II.2F403.57 (−0.01)48.3 (−1.30)19.8153.9 (−1.45)21.7 (−0.01)1.06
II.3F412.58 (−2.16)45.7 (−2.75)18.6138.4 (−3·81)20.9 (−0·19)−2.03
II.4aM412.84 (−1.69)47.0 (−2.18)13.8139.1 (−2.82)26.7 (1.61)−1.60
II.5M39.42.82 (−1.28)48.5 (−0.94)9.5117.7 (−3.14)15.4 (−0.65)−1.08
Total IGF‐I (μg/l)Total IGF‐II (μg/l)Bioactive IGF (μg/l)Free IGF‐I (μg/l)BioIGF/Total IGF‐I (%)IGFBP‐3 (μg/l)IGFBP‐5 (μg/l)ALS (U/L)PAPP‐A2 (μg/l)
Family 1
II.19571,1980.871.390.095,9129973,745NDb
II.23408502.302.080.683,6964572,5880.13
II.38821,2641.540.270.174,8508533,625NDb
II.42647593.212.161.223,3843222,2060.25
Family 2
II.12377632.314.340.973,2351791,3750.34
II.24906293.908.360.803,0071871,4120.44
II.3a1,0609213.351.980.324,5577602,4450.23
II.4c9359142.703.310.294,7929812,9590.42
II.58319460.980.350.124,4036452,4560.30
Normal Values
Tanner I91–225495–911dPrepubertal 1.94 ± 0.151.58–3.15emedian 1.23% (range 0.46–2.59%)2,206–4,200211–707753–2,6340.16–2.69
Tanner V270–617560–794dPubertal 2.93 ± 0.154.89–9.372,796–5,280293–1,0231,260–4,0300.23–0.80
  • Affected individuals are shaded in light gray. Unaffected individuals are not shaded. Values in parentheses indicate the standard deviation score (SDS) for anthropometric measures.

  • a This subject is an adult.

  • b Zero values in the affected patients are expected because of the frameshift mutation resulting in the absence of the target epitopes of the assay. HC: head circumference. BioIGF: Biologically active IGF.

  • c This subject was Tanner stage 2 at the time of examination and biochemical evaluation with 5‐6 cc testes. ND: not detectable.

  • d Normal ranges for bioactive IGF are based on Sorensen et al (2015).

  • e The normal ratio of bioactive IGF to total IGF‐I is based on 95 healthy subjects aged 7–25 years. The ratio was not associated with age.