Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches

Determining the pathogenesis of pediatric growth disorders is often challenging. In many cases, no pathogenesis is identified, and a designation of idiopathic short stature is used. The investigation of short stature requires a combination of clinical, endocrinological, and genetic evaluation. The techniques used are described, with equal importance being given to each of the 3 approaches. Clinical skills are essential to elicit an accurate history, family pedigree, and symptoms of body system dysfunction. Endocrine assessment requires hormonal determination for the diagnosis of hormone deficiency and initiation of successful replacement therapy. Genetic analysis has added a new dimension to the investigation of short stature and now uses next-generation sequencing with a candidate gene approach to confirm probable recognizable monogenic disorders and exome sequencing for complex phenotypes of unknown origin. Using the 3 approaches of clinical, endocrine, and genetic probes with equal status in the hierarchy of investigational variables provides the clinician with the highest chance of identifying the correct causative pathogenetic mechanism in a child presenting with short stature of unknown origin.

Automated summary

Determining the pathogenesis of pediatric growth disorders is often challenging, with a combination of clinical, endocrinological, and genetic evaluations required. Clinical skills are essential for accurate history and symptom assessment, endocrine assessment is crucial for diagnosing hormone deficiency and initiating treatment, and genetic analysis has added a new dimension to investigating short stature. Combining these three approaches with equal importance provides clinicians with the highest chance of identifying the correct causative pathogenetic mechanism in children with short stature of unknown origin.