Turner Syndrome is a genetic condition that affects individuals with a female phenotype. It is characterized by the complete or partial absence of one of the two X chromosomes. This chromosomal alteration can lead to a range of physical and developmental characteristics, including short stature, delayed puberty, and unique facial features. This article explores the historical progression of understanding this condition, from early observations to its formal recognition and the identification of its underlying genetic cause.
Early Clinical Insights
Before the formal description of Turner Syndrome, clinical observations hinted at its existence. In 1768, an Italian physician, Morgagni, published a description of an ailment with symptoms similar to Turner Syndrome. In 1930, German pediatrician Otto Ullrich presented a case of an 8-year-old girl displaying a clinical picture consistent with the syndrome, including congenital lymphedema of the hands and feet and a webbed neck.
Ullrich’s report, published in the Zeitschrift fur Kinderheilkunde (now the European Journal of Pediatrics), provided important early documentation. He noted a “sphinx-like expressionless face” and other characteristic physical traits. Despite these detailed descriptions, these early reports were often isolated and not immediately connected to form a distinct clinical entity.
Henry Turner’s Landmark Description
In 1938, American endocrinologist Dr. Henry H. Turner made a key contribution to the clinical recognition of this condition. He described a consistent pattern of physical features in seven young women. His observations included short stature, a webbed neck, cubitus valgus (an elbow deformity), and a lack of sexual maturation.
Dr. Turner’s contribution was recognizing these recurring symptoms as a distinct clinical entity, which he termed a “syndrome.” He published his findings in the journal Endocrinology in a paper titled “A Syndrome of Infantilism, Congenital Webbed Neck, and Cubitus Valgus.” This publication led to the widespread recognition of the condition, and it subsequently became known as Turner Syndrome, or sometimes Ullrich-Turner Syndrome in Europe, acknowledging Ullrich’s earlier work.
Identifying the Genetic Basis
While Henry Turner provided a clinical description, the underlying cause of the syndrome remained unknown for over two decades. The understanding of Turner Syndrome significantly advanced in 1959 with the discovery of its chromosomal abnormality. This breakthrough identified that the condition is caused by the complete or partial absence of one of the two X chromosomes, resulting in a 45,X karyotype (monosomy X).
This genetic insight was published by Charles Edmund Ford and his colleagues from the Medical Research Council’s Radiobiological Research Unit in Harwell, England, and Guy’s Hospital in London. Their paper, “A Sex Chromosome Anomaly in a Case of Gonadal Dysgenesis (Turner’s Syndrome),” appeared in The Lancet. They examined the cells of a 14-year-old girl with signs of Turner Syndrome and determined she had only one X chromosome instead of the typical two. This discovery transformed the understanding of Turner Syndrome from a clinically observed condition to one with a known genetic etiology.