Clinical and biochemical evaluation of children with short stature in the primary care setting: a systematic review

Short stature is a frequent reason for pediatric referral, yet clear diagnostic criteria remain elusive. Variability in clinical definitions, reference growth charts, and laboratory screening tests complicates the evaluation of affected children. This systematic review aimed to analyze the diagnostic approaches used in clinical and biochemical assessments of short stature in children in the primary care setting. This systematic review was conducted in accordance with PRISMA 2020 guidelines and registered in PROSPERO (CRD420251002215). Two independent literature searches were performed to address two domains: clinical and biochemical assessment. Studies were selected based on predefined inclusion and exclusion criteria, and risk of bias was assessed using the JBI critical appraisal tools. All procedures were conducted by independent reviewers, and discrepancies were resolved by consensus or through a third reviewer. A total of 424 studies were included, 35 in the clinical and 7 in the biochemical domain. Definitions of short stature considered in the studies varied considerably: 28 studies used a threshold of < 2 standard deviation score, while 19 applied percentile-based cut-offs (mostly the 3rd percentile); 8 studies considered both definitions, 3 studies do not report any definition. Growth velocity and target height were rarely used, despite their diagnostic value. Local growth charts were employed when available; otherwise, WHO and CDC references were most used. Laboratory assessments also varied greatly, with complete blood count and urine/stool analyses commonly performed, while thyroid function and celiac disease screening were inconsistently applied. There is substantial heterogeneity in the clinical and biochemical evaluation of children with short stature across studies. This reflects the absence of universally accepted diagnostic criteria and standardized screening protocols. These findings emphasize the need for internationally accepted, evidence-based guidelines to improve diagnostic accuracy and clinical management of children with short stature.