Pubertal Development in Patients with RASopathies

Condition(s) studied

Study summary

Retrospective, single-centre, non-profit, observational study on pubertal development in patients with RASopathies.

Literature data shows that puberty can be delayed by about 2 years in patients with RASopathies and this has been associated with a reduced peak growth rate. To date, only a few numerically limited case series without molecular characterisation have been published.

This descriptive study should improve knowledge of pubertal development and its influence on growth and final stature. The primary aims are to describe the age of onset and progression of pubertal development in the cohort of patients with RASopathies, both male and female, and to describe the influence of pubertal development on statural growth and final stature in the same cohort.

Eligibility

Primary outcome measure(s)

• Age of pubertal onset in males and females in all different genotypes — at baseline
  years, months
• Proportion of males and females with delayed puberty in all different genotypes — at baseline
  percentage %
• Age at the time of the presence of dosable serum LH (≥0,1 U/L) in males and females in all different genotypes — at baseline
  years, months
• Age at time of presence of dosable serum estradiol (>15 pg/ml) in females in all different genotypes — at baseline
  years, months
• Age at time of presence of dosable serum testosterone (>0,2 ng/ml) in males in all different genotypes — at baseline
  years, months
• Age of reaching Peak Height Velocity in males and females in all different genotypes — at baseline
  years, months
• Statural gain at puberty in males and females in all different genotypes — at baseline
  cm
• Peak Height Velocity in males and females in all different genotypes — at baseline
  cm/year

Trial sites (1)

More IRCCS Azienda Ospedaliero-Universitaria di Bologna trials in Italy

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