To investigate the phenotypic, endocrine, cardiac, and genetic characteristics of adolescent basketball players to identify possible causes of tall stature and associated health risks.
Approach:
Participants: 55 youth basketball players (30 females, median age 17 years and height +2.4 standard deviations) were examined.
Methods: Participants underwent detailed endocrine and anthropometric examinations, echocardiography, and genetic testing.
Key Findings:
Echocardiographic abnormalities were observed in 4 out of 55 (7%) athletes.
5 out of 55 (9%) displayed echocardiographic findings resembling physiological adaptation.
Clinically relevant dysmorphic features were identified in 26 out of 55 (47%).
Mild dysmorphia was present in 21 out of 55 (38%) participants.
No endocrine dysfunctions were detected.
1 proband (1.8%) was diagnosed with Marfan syndrome due to a pathogenic variant in the FBN1 gene.
Interpretation:
Echocardiographic abnormalities and monogenic causes of tall stature were found in a small proportion of athletes, suggesting targeted evaluation may be beneficial.
Limitations:
The study sample size was limited to 55 participants.
The findings may not be generalizable to all young athletes.
Conclusion:
Targeted evaluation, including echocardiography, anthropometry, and genetic testing, should be considered in selected individuals.
