ABSTRACT
Background: Short stature and growth failure in pediatric and adolescent populations pose significant challenges in diagnosis and management. Understanding the genetic landscape underlying these conditions is crucial for effective intervention strategies. This study aims to explore the genetic etiology of short stature and growth failure, providing insights into diagnostic approaches for improved patient care.
Aim: The aim of this study was to unravel the complex genetic factors contributing to short stature and growth failure in pediatric and adolescent populations. Through comprehensive analysis, we sought to identify key genetic markers and pathways associated with these conditions, with the ultimate goal of enhancing diagnostic accuracy and therapeutic outcomes.
Methods: We conducted a retrospective analysis of clinical data from pediatric and adolescent patients presenting with short stature and growth failure. Genomic sequencing techniques, including whole-exome sequencing and targeted gene panel analysis, were employed to investigate genetic variants potentially linked to these conditions. Bioinformatic tools were utilized to interpret genetic data and identify relevant genetic alterations.
Results: Our study identified a spectrum of genetic variants implicated in short stature and growth failure, encompassing genes involved in growth hormone signaling, skeletal development, and hormonal regulation. We observed diverse genetic profiles among patients, highlighting the heterogeneity of underlying genetic mechanisms. Furthermore, our findings underscored the utility of genomic sequencing in elucidating the genetic basis of these conditions and guiding personalized treatment strategies.
Conclusion: In conclusion, our study sheds light on the genetic landscape of short stature and growth failure in pediatric and adolescent populations. By unraveling the complex interplay of genetic factors, we have advanced our understanding of the etiology of these conditions. Moving forward, integrating genetic insights into clinical practice holds promise for enhancing diagnostic accuracy and tailoring therapeutic interventions to individual patients.
Keywords: Short stature, growth failure, pediatric, adolescent, genetic landscape, etiology, diagnostic approaches, genomic sequencing, personalized medicine.