ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Growth Hormone & IGF Research 2020; 50: 48–56. doi: 10.1016/j.ghir.2019.11.004

• The authors summarize the historical aspects of the discovery of mechanisms underlying short and tall stature in South America.• Tall stature stories include gigantism in Patagonia, acromegaly and the relationship between glucose metabolism and GH excess.• Short stature reports include the discovery of GHRH receptor and GH receptor mutations (Laron Syndrome).

This interesting paper mixes history, clinical description and science. It is beautifully illustrated. The first part describes the (tragic) interaction between Spanish sailors, surprised and intimidated by the large size of two populations in Patagonia where they landed during their discovery travels in the 15th and 16th centuries. These populations are now extinct, likely because of diseases brought by the sailors, a stark reminder of the dolorous colonial history in South America, and the cause of the tall stature is unclear. More recently, in the 19th and 20th centuries, the description of tall individuals (most of them with a pituitary adenoma) and the consequences of the disease on the quality of their life serve as a reminder that in all cultures, being different is a cause of discrimination. Many of these giants died early following a life as boxers or circus workers. Finally, at the other hand of the spectrum, the authors describe extremely short people suffering from two medical conditions well-known to pediatric endocrinologists: isolated GH deficiency secondary to an inactivating mutation in the GH-releasing hormone receptor gene, and inactivating mutation of the GH receptor gene (Laron syndrome). The article is also a teaching opportunity and the authors compare the clinical findings of these two conditions found in small communities in Brazil and Ecuador, respectively. Of note, the Ecuadorian patients, who, as research subjects, markedly contributed to our understanding of the growth hormone axis and to the development of recombinant IGF-1, did not benefit from longterm treatment with the expensive medicine that they contributed to develop. It was not provided by the pharmaceutical company and was not paid for by the health system. This situation, which infuriated Dr Guevara-Aguirre (Ecuador) who spent many years following these patients, is a reminder of our duty to protect the patients who participate in the clinical studies they are involved in.