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Genetic Screening for Growth Hormone Therapy in Children Small for Gestational Age: So Much to Consider, Still Much
1U.O.C. of Pediatrics, Department of Maternal and Child Health, Carlo Poma Hospital, ASST-Mantova, Mantova, Italy.
Insights
Early genetic screening for short small for gestational age (SGA) children can identify growth failure causes and predict response to recombinant human growth hormone (rhGH) therapy, improving outcomes.
Area of Science:
- Pediatrics
- Genetics
- Endocrinology
Background:
- Children born small for gestational age (SGA) who do not achieve catch-up growth represent a heterogeneous group with diverse underlying causes of growth failure.
- Current management often involves recombinant human growth hormone (rhGH) therapy, but its efficacy varies, and the precise diagnosis of growth failure is frequently delayed.
Purpose of the Study:
- To review the evidence for early genetic screening in short SGA children to improve diagnosis and treatment personalization.
- To explore the utility of Next Generation Sequencing (NGS) panels in identifying genetic causes of growth failure and predicting rhGH response.
Main Methods:
- Review of current scientific literature and evidence supporting early genetic screening in short SGA children.
- Discussion of the role of Next Generation Sequencing (NGS) panels in diagnosing growth failure and differentiating responders from non-responders to rhGH therapy.
Main Results:
- Genetic screening may aid in diagnosing the underlying cause of growth failure in short SGA children.
- NGS panels show potential in identifying children likely to benefit from rhGH therapy, allowing for tailored treatment strategies.
- Early genetic information can guide long-term management and family counseling, especially for those at higher risk.
Conclusions:
- Early genetic screening in short SGA children offers significant potential for improving diagnostic accuracy and personalizing growth hormone therapy.
- Integrating genetic data with clinical follow-up, potentially through national registries, can optimize patient care and long-term outcomes.
- Tailored therapeutic approaches based on genetic findings can enhance the effectiveness of rhGH treatment and manage patient expectations.
Abstract:
Children born small for gestational age (SGA), and failing to catch-up growth in their early years, are a heterogeneous group, comprising both known and undefined congenital disorders. Care for these children must encompass specific approaches to ensure optimal growth. The use of recombinant human growth hormone (rhGH) is an established therapy, which improves adult height in a proportion of these children, but not with uniform magnitude and not in all of them. This situation is complicated as the underlying cause of growth failure is often diagnosed during or even after rhGH treatment discontinuation with unknown consequences on adult height and long-term safety. This review focuses on the current evidence supporting potential benefits from early genetic screening in short SGA children. The pivotal role that a Next Generation Sequencing panel might play in helping diagnosis and discriminating good responders to rhGH from poor responders is discussed. Information stemming from genetic screening might allow the tailoring of therapy, as well as improving specific follow-up and management of family expectations, especially for those children with increased long-term risks. Finally, the role of national registries in collecting data from the genetic screening and clinical follow-up is considered.
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