The condition known as Turner syndrome was first defined by American endocrinologist Dr. Henry Turner in 1938, but its genetic cause remained unknown for two decades. This chromosomal condition affects development in individuals assigned female at birth. The story of its discovery involved a series of observations by different scientists, where initial clinical descriptions paved the way for later genetic confirmation.
Dr. Henry Turner’s Initial Observations
In 1938, endocrinologist Dr. Henry Turner published a report on seven young female patients who shared a distinct pattern of physical characteristics. He was the first to formally document this collection of symptoms as a recognizable syndrome, providing the first clinical definition of the condition that now bears his name.
The primary traits Turner identified included short stature and a lack of sexual development. He noted what he termed “sexual infantilism,” which was due to undeveloped ovaries, a feature now known as gonadal dysgenesis. Other common features he described were a “webbed” neck (pterygium colli) and an elbow deformity known as cubitus valgus. The cause was a mystery, with Turner initially suspecting a defect in the pituitary gland.
Uncovering the Chromosomal Cause
The biological reason for the traits Turner observed remained unknown for more than 20 years. In 1959, Dr. Charles Ford and his colleagues in England provided the answer. Using advanced techniques in cytogenetics, they examined the genetic makeup of a 14-year-old girl showing signs of the syndrome.
They found the patient’s cells were missing a sex chromosome. Instead of the 46,XX karyotype found in females, she had only 45 chromosomes with a single X chromosome (45,X). This condition, known as monosomy X, was identified as the genetic cause of Turner syndrome, directly linking the symptoms Turner described to a specific chromosomal abnormality.
Earlier Descriptions and Other Contributors
While Henry Turner is credited with defining the syndrome, other physicians had described patients with similar features earlier. In 1930, German pediatrician Otto Ullrich presented the case of a girl with a webbed neck and short stature, eight years before Turner’s report. Due to this, the condition is often called Ullrich-Turner syndrome in European medical literature.
Earlier accounts also exist, including a 1925 report by Russian endocrinologist N.A. Shereshevsky, which is why the condition is sometimes called Shereshevsky-Turner syndrome in Russia. These prior observations highlight that Turner’s primary contribution was compiling the shared characteristics of several individuals into a distinct syndrome.