Response to Letter to the Editor: “Genetic Testing for the Child with Short Stature: Has the Time Come to Change Our Diagnostic Paradigm?”
Year: 2019
Type: letter
Abstract: I thank Dr. Tornese for his interest and enthusiastic support of my commentary as well as for genetic testing in patients with short stature. Dr. Tornese makes a few key points that deserve comment. First, as Dr. Tornese suggests, it is becoming even more evident that genetic defects at the level of the growth plate are a common cause of short stature. In a recent article by Plachy et al, published in The Journal of Clinical Endocrinology and Metabolism, the authors identified a genetic cause in 17 out of 33 patients with familial dominantly inherited short stature (1). Nine of the 17 had likely causal variants in growth plate related genes. This adds to the mounting evidence of the importance of genetic defects in the growth plate for familial short stature. Second, I completely agree that additional studies are needed to identify which of these new genetic subgroups of short stature may or may not respond to growth hormone therapy. This will require large international collaborations to accumulate cohorts of sufficient size to adequately address this question. Perhaps more important, personalized management will only be possible when new therapies that directly target the underlying pathophysiology are developed. However, to pursue those therapies, we must first establish a firm understanding of the underlying spectrum of genetic mutations leading to short stature. I look forward to working with interested investigators to pursue this goal. Disclosure Summary: The author has no conflicts of interest to disclose.
Author: Andrew Dauber
Institution: Children's National
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W2985979490