ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: BMJ Case Rep 2020;13:e231737. doi: 10.1136/bcr-2019-231737

• The authors report 2 cases of severe short stature, Laron Syndrome and Cornelia-Delange-like syndrome, followed in Ecuador, a country with limited resources.• They highlight the tendency of a society to discuss children with severe short stature with derogatory terms to automatically assume that these children have developmental delay.• They also describe the shortcomings in diagnosis and management faced by these patients in low-resource settings.

This article is an opportunity to reflect on our role as clinicians, researchers but also advocates. It mixes history, science and clinical care. It focuses on two issues: the first one is the derogatory terms by which short patients are called (‘dwarfs’, ‘midgets’) and the second is the lack of resources in many low income countries that lead to suboptimal assessment and management. The first issue is unfortunately not limited to low income countries. Being different is often a reason for discrimination, and extreme short stature is a clear example. In our work as pediatric endocrinologists, short stature is a very common reason for referral, reflecting the perceived importance of height in the society. The authors highlight the consequences, not of the short stature per se, but of the discrimination associated with the short stature on the quality of life of patients. This should lead us to reflect on our role as advocates for our patients. The second issue is more specific to low-resource settings, where expensive diagnostic tests and treatments are often difficult to obtain. Again, as pediatric endocrinologists, we need to learn how to collaborate, communicate and advocate for access to diagnostic tests and to medicines. Our task also consists in ensuring that we make the best use of limited resources.