Background: Reduced growth is a common feature in RASopathies. Poor data are available about pubertal spurt and the effect on final height (FH) in patients with these disorders.
Objective and hypotheses: To study growth, body proportions, pubertal pattern, and FH including subject treated with GH-therapy for proven GH deficiency.
Method: We analized growth trend and body proportions in 88 patients affected by RASopathies with molecularly confirmed diagnosis, pubertal pattern in 44 of them and FH reached in 33 subjects, including 16 treated with GH therapy for proven GH deficiency.
Results: Thirty-three patients showed GH deficiency after pharmacological tests, and were GH-treated for an average period of 6.8±4.8 years. Before starting therapy, HV was −2.6±1.3 SDS, and mean basal IGF1 levels were −2.0±1.1 SDS. Long-term GH therapy, starting early during childhood, resulted in a positive height response compared to untreated patients (1.3 SDS in terms of height-gain), normalizing FH for Ranke standards but not for the general population (GP) and the Target Height. First pubertal clinical signs were observed at age of 11.8±1.9 yrs in female and 12.1±1.3 yrs in males. Pubertal growth showed a lowered peak (6.2±1.5 cm/yrs in female and 6.8 cm/yrs in males), and a delay in onset by about 6 months, compared to the GP. Pubertal spurt length resulted 5.3±1.1 yrs in female and 4.7±0.6 yrs in males. The delayed pubertal development and the inadequate pubertal catch-up growth could explain the impaired FH.
Conclusion: Our patients on GH-therapy benefitted from the therapy if started in pre-puberty and given for a long time. Probably, the prepubertal start of GH-treatment could compensate the lack of a satisfying pubertal growth spurt.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology