Pubertal Development in Patients with RASopathies

The study enrolls patients with molecularly confirmed RASopathy and completed pubertal development who referred to the Centre for Rare Congenital-Malformative Diseases of the Pediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy, between 01/01/2001 and 31/12/2023. Being a Regional Centre, it is possible to enrol a significant number of patients.

The primary aims of the study are to describe the age of onset and progression of pubertal development in this cohort of patients, and to describe the influence of pubertal development on statural growth and final stature. The secondary aim is to compare the trends of pubertal development and statural growth at puberty in GH-treated and untreated patients with RASopathies.

The study consists of the retrospective collection and analysis of anthropometric data on growth and pubertal development of the cohort of patients enrolled by consulting their medical records. More in detail, for each patient will be collected demographic data, prenatal data, personal medical history, pubertal history, organ involvement data, outpatient clinical evaluation with height, weight, and growth rate, data on GH therapy, if any, radiological assessments and laboratory tests, and the molecular RASopathy diagnosis by NGS panel and/or Sanger sequencing of target genes.

Due to the observational nature of the study, enrolled patients are treated according to clinical practice.

Inclusion criteria

• Age at enrollment between 8 and 35 years, extremes included;
• Molecularly confirmed clinical diagnosis of RASopathy;
• Complete pubertal development;
• Obtaining informed consent for participation in the study and processing of personal data.

Exclusion criteria

• None.