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Growth failure: 'idiopathic' only after a detailed diagnostic evaluation
Robert Rapaport1, Jan M Wit2, Martin O Savage3
1Division of Pediatric Endocrinology & Diabetes, Mount Sinai Kravis Children's Hospital and Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Endocrine Connections
|February 5, 2021
Summary
Idiopathic short stature (ISS) and small for gestational age (SGA) labels are not definitive diagnoses. A combination of clinical evaluation, hormonal testing, and genetic sequencing is crucial for understanding short stature causes.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Growth Disorders
Background:
- Idiopathic short stature (ISS) and small for gestational age (SGA) are historical diagnostic labels for short children.
- While growth hormone (GH) treatment approvals in 2001-2003 solidified ISS and SGA as clinical entities, their diagnostic limitations persist.
- The emergence of genetic investigations has revealed numerous molecular insights into ISS and SGA.
Purpose of the Study:
- To challenge the definitive nature of ISS and SGA diagnostic labels.
- To advocate for a comprehensive approach to diagnosing short stature.
- To highlight the importance of integrating clinical, hormonal, and genetic data.
Main Methods:
- Review of historical definitions and diagnostic evolution of ISS and SGA.
- Analysis of the impact of molecular discoveries on understanding short stature.
- Proposal for a multi-disciplinary diagnostic hierarchy.
Main Results:
- ISS and SGA labels, originating before molecular genetics, are not exhaustive diagnostic categories.
- Genetic investigations have significantly advanced the understanding of underlying causes for short stature.
- Current diagnostic practices may not fully capture the etiology of short stature.
Conclusions:
- ISS and SGA should not be considered definitive diagnoses.
- A balanced integration of clinical evaluation, hormonal investigation, and genetic sequencing is essential.
- This multi-faceted approach will improve the identification of the true pathogenesis in patients with short stature.
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