Endocrine Abstracts

‘Je résolus de m’informer du pourquoi, et de transformer ma volupté en connaissance’ Baudelaire.

One of the great blessings in life is to be able to work at something that inspires and interests you. For me, exploration of the diseases caused by abnormal neuroendocrine function has been my passion. Its complexity and interlinked nature can be both startlingly confusing and, when better understood, remarkably logical. But above all, the clinical impact of disordered neuroendocrine function on the patient is often dramatic, and demands our attention and care.

Pituitary hormonal secretion grabbed my interest as a young researcher, particularly the abnormalities associated with pituitary adenomas, like my first publications on FSH secreting and mammosomatotrope pituitary adenomas about 30 years ago. This interest has led me on a very interesting journey that has been punctuated by research projects that have hopefully contributed positively to the neuroendocrinology field. Usually these observations have very ordinary beginnings, usually in a normal endocrine clinic setting, while talking to my patients and puzzling over a result that seems not to have an easy explanation. From patients with unexplained familial occurrence of pituitary adenomas arose the first studies that eventually gave rise to my description of familial isolated pituitary adenomas (FIPA). From those FIPA cases, it was a logical step to explore the role of the AIP gene in various settings, including its contribution to a younger, more severe phenotype in acromegaly. This, in turn, led our work into the area of gigantism, one that I have found fascinating since I was a young researcher. This recently came full circle with the discovery of X-LAG syndrome, a disorder of extreme pituitary gigantism due to a Xq26.3 microduplication, which itself can present as FIPA. The act of counting off where my patients lived on my drive home from work in the so-called Adenoma Valley provided the seed for studies demonstrating the important prevalence of pituitary adenomas in the general population.

While the initial observations might come from a mundane setting, the proof of a clinically important finding is the work of many people. In the setting of rare neuroendocrine disorder research where genetics plays a central role, the journey to discovery must pass through many stations and airports. It involves the collaboration and shared work of colleagues around the world, each contributing their own vital piece of the jigsaw puzzle.