AUTHOR=Giacomozzi Claudio 

TITLE=Genetic Screening for Growth Hormone Therapy in Children Small for Gestational Age: So Much to Consider, Still Much to Discover

JOURNAL=Frontiers in Endocrinology

VOLUME=Volume 12 - 2021

YEAR=2021

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2021.671361

DOI=10.3389/fendo.2021.671361

ISSN=1664-2392

ABSTRACT=Children born small for gestational age, and failing to catch-up growth in their early years, are a heterogeneous group, comprising many known genetic disorders, as well as many 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. Techniques such as genetic screening by next generation sequencing or whole exome sequencing, may play a pivotal role in helping diagnosis and discriminating good responders to rhGH from poor responders. Accurate information on individual patients allows therapy to be tailored, prescribing additional medication besides rhGH if needed, as well as improving specific follow-up and management of family expectations for those children with increased long-term risks. Ideally, genetic screening information as well as complete long-term clinical data should be carefully collected from patients and be freely available for research in national registries, thus enabling studies for improving management.