Constantine Stratakis: Discovering Gigantism’s Genetic Roots

Updated on October 8, 2020
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A world leader in endocrinology and pediatric research has made vital discoveries that could develop life-changing Gigantism treatments.

Over the last few years, the acclaimed endocrinologist and medical geneticist Constantine Stratakis has made major contributions to research into the genetic causes of Gigantism. Following Constantine’s extensive investigative work into the rare condition, his team of researchers believe that their discoveries could be essential in developing new treatments for the condition. The research findings could also help scientists to understand more about undergrowth in children, the opposite condition, which is currently treated with growth hormones.

Gigantism is a rare condition, caused by the pituitary gland releasing excess growth hormone. Children who have Gigantism tend to be abnormally tall, grow quickly, have large hands and feet, and often go through puberty later than the average teenager. Sometimes, surgeons can treat Gigantism by removing the tumor or the entire pituitary. However, some cases can be treated with medication alone.

The Gigantism and Acromegaly Study

Constantine’s contributions to discovering the genetic causes of Gigantism began with a pivotal research study, which Constantine led in 2014. As the Director of the Division of Intramural Research at the National Institutes of Health (NIH) and Head of its Section on Endocrinology & Genetics, Constantine led the Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutations study, which identified the genetic cause of Gigantism in more than 80% of the early childhood cases.

First, Constantine studied a rare family case—a mother and two sons who were seeking treatment for Gigantism in the 1990s. Constantine emphasizes that Gigantism is a rare condition and having three cases within one family is exceptionally unlikely. In a bid to uncover the genetic causes of overgrowth exemplified by this family, Constantine and his colleagues then recruited 43 participants who had been diagnosed with Gigantism as a toddler or child. 

Gigantism Study Results

Constantine and his fellow laboratory scientists analyzed each participant’s DNA and drew up a comparative analysis of their genome. The study led Constantine and his colleagues to discover a gene associated with excessive growth in children—they identified a duplication of a short X chromosome region in the participants’ DNA. Each participant showed signs of duplication in four genes, and the research team concluded that the gene most likely to cause overgrowth is GPR101. This gene’s activity is up to 1,000 times more potent in children with Gigantism than children who develop within the normal range.

The National Institutes of Health published the research findings in the New England Journal of Medicine.

“We believe GPR101 is a major regulator of growth,” says Constantine. “Finding the gene responsible for childhood overgrowth would be very helpful, but the much wider question is what regulates growth?” 

“As pediatricians and endocrinologists, we look at growth as one of the hallmarks of childhood,” adds one of the researchers involved in investigating the gene’s behaviour. “Understanding how children grow is extraordinarily important, as an indicator of their general health and their future well-being.”

About Constantine Stratakis

Constantine Stratakis is a senior investigator at the National Institutes of Health who has spent three decades developing key findings in the endocrinology, genetic and pediatric fields. He is also a visiting professor at numerous universities, the president of the Society for Pediatric Research and a member of the American Pediatric Society, the American Society for Clinical Investigation, and the Association of American Physicians.

He has contributed a great deal of research and development to pediatric fields, particularly genetic and molecular disorders affecting pituitary, adrenal, and endocrine tumors. Constantine was involved in the research group that identified the first mutations of the human glucocorticoid receptor gene. He has also identified genes in Bilateral adrenal hyperplasias, Cushing syndrome, and Carney complex, as well as other endocrine disorders. 

Constantine has undergone extensive training in pediatrics, endocrinology, and genetics at the University of Athens Medical School, Athens National & Capodistrian University, the Unit of Endocrinology & Metabolism at Hospital “Cochin”, Georgetown University’s School of Medicine, the National Institute of Child Health and Human Development (NICHD), the NIH Developmental Endocrinology Branch, and the University of Maryland’s School of Public Policy.

Constantine holds prestigious positions on many journals’ editorial boards and has written over 700 research publications for peer-reviewed journals, such as The Journal of Clinical Endocrinology & Metabolism, Radiology, and Proceedings of the Association of American Physicians, amongst others.

As a renowned thought leader in endocrinology and pediatric and medical genetics, he has been presented with many awards that show recognition for his extensive knowledge and achievements. In 1999, Constantine won the Pharmacia-Endocrine Society Award for Excellence in Published Clinical Research. In 2009, he then won the Ernst Oppenheimer Award of the Endocrine Society, followed by the NICHD Mentor Award in 2015. The Mentor Award celebrates the high-level clinical training that Constantine has offered to over 200 worldwide students.

Read more about Constantine Stratakis at

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