Pubertal Development in Patients with RASopathies An Observational Study on Growth and Puberty Patterns

What this Trial Is About

Researchers are studying pubertal development in patients with RASopathies, a group of genetic conditions, to better understand how puberty affects growth and final height. Previous reports suggest puberty may be delayed by about 2 years in these patients, with a reduced peak growth rate. This study aims to describe the timing and progression of puberty and its impact on growth in both males and females with molecularly confirmed RASopathies. The study reviews past medical records of patients aged 8 to 35 years who have completed puberty and were seen at a specialized center in Italy between 2001 and 2023. Data collected includes demographic information, prenatal and personal medical history, details on pubertal development, organ involvement, clinical measurements of height and weight, growth rate, and any growth hormone treatment received. Molecular diagnosis was confirmed through genetic testing methods. Participants undergo no new treatments as this is an observational study. Researchers analyze growth and puberty data, including hormone levels and radiological tests, to measure outcomes such as age at pubertal onset, hormone presence, peak height velocity, and statural gain during puberty. The study also compares growth patterns between patients treated with growth hormone and those who were not, aiming to improve understanding of puberty's role in growth among people with RASopathies.

Pubertal Development in Patients with RASopathies