ESPE Abstracts

Introduction: Tall stature (TS) is defined as height taller > +2 SD. Subjects with TS are not usually genetically nor clinically tested unless having a suspicion for a specific disease. Young basketball players used to be healthy children who are exposed to enormous physical stress in trainings and matches.

Aims: To evaluate the syndromic features via anthropometric assessment, to reveal possible hidden cardiologic anomalies, and to elucidate the genetic cause of TS.

Methods: In cooperation with Czech Basketball Federation, youth basketball players (height > +2 SD, age <19 years) were offered the participation in the study. Those who contented underwent following examination: endocrinological (including detailed medical history and physical examination), anthropometric, cardiological and genetic. DNA samples were examined using MLPA for gonozomal trisomy and SHOX duplication and via next-generation sequencing panel of 786 genes related to growth. The results were evaluated using American College of Medical Genetics and Genomics guidelines.

Results: In total, 22 youths (12 girls) were enrolled to the study. Their median age was 13 years (IQR 10-16 years) and height 3.1 SD (2.7-3.6 SD). One study participant had known anxiety disorder and one moderate myopia (-4 D), 7/22 had mild myopia (-0.8 D – 3.0 D). No other clinically relevant data were obtained from the medical history, however, only 2/22 youths were previously examined for TS. Endocrinological cause of TS was excluded in all the study participants. Detailed anthropometric examination revealed subtle syndromic features in 16/22 (73%) participants (positive wrist sign, positive thumb sign, disproportionality, etc.). Detailed ECHO examination found a cardiological abnormal condition in 14/22 (63%) participants (6/14 enlargement of left atrium, 6/14 trivial mitral insufficiency, 1/14 hypertrophy of left ventricle with enlargement of abdominal aorta, 1/14 hypertrophy of interventricular septum). So far, we elucidated the genetic cause of TS: in 1/22 (4.5%) youth having pathogenic variant in the FBN1 gene. Moreover, we found 5 variants of uncertain significance in the genes FBN1 [1], LRP4 [3], CHD8 [1].

Conclusion: Previously unobserved syndromic features and cardiac conditions can be found in a significant number of youth basketball players while monogenic causes of TS were rarely detected. Supported by Ministry of Health of the Czech Republic, no. NU21-07-00335.