Turner Syndrome

An Update

Abstract

It has been 10 years since our last review on Turner syndrome for The Endocrinologist. At the time, we focused on the recognition of this condition and the understanding, in the last 50 years, of its many clinical sequelae, starting from what Dr Turner had described; we also noted the first steps that the Genome Project had undertaken towards the molecular elucidation of the condition. As it befits any genetic condition in the early 21st century, the issues of the current review are quite different: the then-experimental treatment with recombinant growth hormone (rGH) is now approved and considered standard of practice (albeit not without significant controversy); patients with Turner syndrome, treated and untreated with rGH, are getting older, have entered the workforce, and have families of their own, and, thus, a previously unstudied phenotype emerges, that of the older adult with complete or partial chromosome X monosomy; and, finally, significant advances have been made in the molecular understanding of the condition that go well beyond chromosomal studies. The molecular biology of the X chromosome holds promise for the elucidation of such important and complex questions as what determines gender (and to some extent, perhaps, sexual identity), ovarian function (and, consequently, reproduction); processes such as skeletal maturation, proportions, and final height; and many other biologic parameters that are known to demonstrate X-linked differences.