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Children With Idiopathic Short Stature: An Expanding Role for Genetic Investigation in Their Medical Evaluation
Laurie E Cohen1, Alan D Rogol2
1Division of Endocrinology and Diabetes, Department of Pediatrics, Albert Einstein College of Medicine, New York, New York.
Insights
Idiopathic short stature in children is a heterogeneous group, not a diagnosis. Advanced genetic testing helps identify specific causes, enabling targeted therapies beyond standard growth hormone treatment.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Growth Disorders
Background:
- Short stature is a frequent referral reason for pediatric endocrinologists.
- Excluding genetic, nutritional, illness, and hormonal causes is crucial before diagnosing idiopathic short stature.
- Idiopathic short stature represents a diverse group of children with slow growth, not a definitive diagnosis.
Purpose of the Study:
- To highlight the evolving understanding of short stature diagnoses.
- To emphasize the role of advanced genetic testing in identifying specific causes.
- To advocate for targeted therapies based on precise diagnoses.
Main Methods:
- Review of current diagnostic approaches for pediatric short stature.
- Discussion of advanced genetic testing modalities (gene panels, CGH, WES, WGS).
- Emphasis on physical examination for subtle dysmorphies indicating genetic mutations.
Main Results:
- New genetic testing paradigms are reducing the 'idiopathic' label, revealing polygenic causes.
- Diagnoses often involve growth plate biology, necessitating careful physical assessment.
- Genetic diagnoses allow for tailored treatments, potentially improving outcomes over generic growth hormone therapy.
Conclusions:
- A definitive diagnosis for short stature is essential for guiding further evaluation and treatment.
- Accurate diagnosis aids in identifying comorbidities, facilitating genetic counseling, and directing targeted therapies.
- Moving beyond 'idiopathic' short stature improves patient management and therapeutic efficacy.
Abstract:
Short stature in children is a common reason for referral to a pediatric endocrinologist. Many genetic, nutritional, psychological, illness-related, and hormonal causes must be excluded before labeling as idiopathic. Idiopathic short stature is not a diagnosis, but rather describes a large, heterogeneous group of children, who are short and often slowly growing. As new testing paradigms become available, the pool of patients labeled as idiopathic will shrink, although most will have a polygenic cause. Given that many of the new diagnoses are involved in growth plate biology, physical examination should assess for subtle dysmorphology or disproportion of the skeleton that may indicate a heterozygous mutation that in its homozygous state would be apparent. When laboratory evaluations are negative, one may consider genetic testing, such as targeted gene or gene panel, comparative genomic hybridization, or whole exome or whole genome sequencing (respectively). With a known genetic diagnosis, targeted therapy may be possible rather than recombinant human growth hormone, where response is generally poorer than that for children with growth hormone deficiency, because the variety of diagnoses may have varying growth hormone sensitivity. A firm diagnosis has heuristic value: to truncate further diagnostic evaluation, alert the clinician to other possible comorbidities, inform the family for genetic counseling, and direct appropriate targeted therapy, if available.
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