Noonan Syndrome Growth Charts and Genotypes: 15-Year Longitudinal Single-Centre Study
Authors' conclusion
We present longitudinal data describing growth curves and trends, the natural history, and genotypes of the NS population, which provide a useful tool for clinicians in the management of NS.
Study context
- Population
- Children with Noonan syndrome (NS) followed 2005–2022 at Bambino Gesù Children's Hospital, Italy, without GH treatment; median age 14.01 (IQR 9.05–19.25) years, 55.8% male
- Participants
- 190 children
- Exposure
- Growth of children with NS vs general Italian population; PTPN11 vs other mutations
- Outcome
- NS sex-specific centile curves for height, weight, BMI and height velocity
Methodological details15-year longitudinal, single-centre, observational, non-interventional
- 15-year longitudinal
- Single-centre
- Observational
- Non-interventional
Main finding
As reported in the abstract
- For both sexes, 50th percentile of height and weight in NS overlapped with the 3rd percentile of the general Italian population
Observational data: associations, not effects.
Further findings
- Height and weight by genotype: significantly lower height and weight with PTPN11, both sexes
Clinical features and genotypes
- Cardiovascular anomalies
- 85.3%
- Pulmonary stenosis
- 52.6%
- Atrial septal defects
- 36.8%
- Cryptorchidism (male participants)
- 48.1%
- PTPN11 mutations
- 66.3%
- SOS1 mutations
- 13.9%
Cardiac anomalies vs PTPN11 mutation status
- No significant associations between cardiac anomalies and PTPN11 mutation status
Original publication
Noonan Syndrome Growth Charts and Genotypes: 15-Year Longitudinal Single-Centre Study. Horm Res Paediatr. Published 22 July 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →