Henry Hubert Turner (1892–1970)

Henry Hubert Turner was a physician and researcher who studied hormones and human development in Oklahoma City, Oklahoma, during the twentieth century. He was one of the first people to classify Turner syndrome, which is a genetic condition that occurs when someone has a specific atypical chromosomal pattern, and as of 2024, affects one in 1,500 to 2,500 female births. Turner syndrome results in a biological female completely or partially missing one of their X chromosomes. Many researchers label it an intersex condition, or a condition in which someone has atypical male or female sex characteristics, such as different sex chromosome patterns. During his career, Turner encountered multiple patients with a specific set of symptoms, including stunted sexual development, webbed neck, and elbow deformities, and he was unable to place those symptoms under one existing diagnosis. So, he categorized those symptoms as a new syndrome, which researchers later named Turner syndrome. By identifying Turner syndrome as a developmental condition, Turner helped future physicians develop treatments and diagnostic tools that can improve the lives of individuals with various developmental disorders.

1. Early Years and Education
2. Working as an Educator and a Physician
3. First Observations of Turner Syndrome
4. Learning More About the Symptoms of Turner Syndrome
5. Analyzing the Chromosomal Cause of Turner Syndrome
6. Research on Turner Syndrome after Turner
7. Turner’s Impact

Early Years and Education

Turner was born on 28 August 1892 in Harrisburg, Illinois, to Alice Rose Turner and John William Turner. Growing up, Turner was an only child who spent his childhood and teenage years in Harrisburg. In 1912, he graduated from high school, and in 1914, he moved from Harrisburg to St. Louis, Missouri, to begin his undergraduate degree at St. Louis University.

In 1918, Turner earned his undergraduate degree from St. Louis University and progressed into a postgraduate externship, or a learning opportunity to observe or shadow in a field of study for a short period of time, at St. John’s Hospital in St. Louis. During his externship, he worked under William Engelbach, a researcher who studied the functions of various parts of the endocrine system including the ductless glands, which are organs that release hormones straight into the bloodstream and help regulate the body’s functions. Through Engelbach, Turner learned about the field of radiology, or the study of X-rays for the use of creating images for diagnosis and treatment, and endocrinology.

From 1919 to 1921, Turner worked to complete his medical degree and in the following year, he took on two new training positions to gain medical experience. In 1919, Turner started his medical degree at the School of Medicine at St. Louis University. After two years, Turner transferred to the University of Louisville in Louisville, Kentucky, where he completed his medical degree in 1921. Then, from 1922 to 1924, Turner held an internship at the Louisville City Hospital as a house officer of medicine, as well as the Chief Medical Resident and resident radiologist at the hospital. During those two years in Louisville City Hospital, Turner also worked as a fellow, where he received training in the medical specialty of endocrinology.

Working as an Educator and a Physician

In 1923, Turner married Frances Bulkley, and one year later, in 1924, the couple moved to Oklahoma City, where Turner began practicing medicine on his own as well as at other facilities. In the same year as his move to Oklahoma City, Turner started his private practice and began working at the University of Oklahoma College of Medicine, or the OU College of Medicine. At the OU College of Medicine, Turner started as an instructor in medicine, and in October 1924, he became the medical superintendent at the university’s hospital. Due to his connections with the OU College of Medicine, Turner was also the Consulting Endocrinologist and the Chief of the Adult Metabolic Clinic at the university hospital. As Consulting Endocrinologist, Turner practiced as a physician with a specialty in endocrinology, and as the Chief of the Adult Metabolic clinic, he held the highest position at the clinic and oversaw its other employees. In 1925, Turner and his wife had their first child, Marian Frances. While Turner continued practicing medicine, the OU College of Medicine promoted him to Assistant Professor of Medicine in 1928. The following year, Turner and his wife had their second child, Alice Ann.

In 1930, Turner traveled to Europe, which allowed him to broaden his medical knowledge in neurology, the medical study of the nervous system, and endocrinology. Initially, Turner went to the University of Vienna in Vienna, Austria, for a month to gain training in neurology so that he could potentially replace a previous neurologist at the University of Oklahoma University Hospital who had died. Turner was also able to further his training in endocrinology at the University of Vienna. In October of the same year, Turner went to study at the Hospital for Paralyzed and Epileptics in London, England, returning to the United States afterward. 

First Observations of Turner Syndrome

Back in Oklahoma City from 1932 to 1937, Turner began researching the condition known as Turner Syndrome as of 2024. Beginning in 1932, he saw and wrote about seven patients who displayed short necks, deformed elbows, short statures, and a lack of sexual development, and he attempted to diagnose them with Klippel-Feil syndrome. Klippel-Feil syndrome is a bone disorder defined by fused bones in the neck and is due to a lack of separation in the neck bones during fetal development. Turner began writing his observations of his seven patients from 1932 to 1937 and described his line of thought as he attempted to diagnose them. While writing his paper, Turner referred to the work of Maurice Klippel, a physician from France, and Klippel’s student and fellow physician, Andre Feil. In their work, Klippel and Feil noted that they had observed a patient who had a short neck, just like Turner’s patients did. Due to similar symptoms, Turner thought to diagnose his patients with Klippel-Feil syndrome. However, Turner could not diagnose his patients with Klippel-Feil syndrome because even though their necks were short, his patient's short necks were not due to fused cervical vertebrae.

As Turner continued writing his paper from 1932 to 1937, he found that each of his seven patients with seemingly short necks had what previous researchers had called a webbed neck. In his paper, Turner refers to Oskar Kobyliński, a medical student from a university in Dorpat, Russia, as he was one of the first to write about a patient with a webbed neck. Kobyliński described a webbed neck as the extension of skin from the neck to the shoulders, and his description allowed Turner to refer to his patient's neck shape as webbed.

After recognizing that his patients had webbed necks and, thus, did not have Klippel-Feil syndrome, Turner tried to diagnose them with other existing spine-related deformities, but the patients’ symptoms did not fit under any of them. Unlike the other conditions that Turner investigated, Turner’s patients’ webbed necks only caused the illusion of a short neck. In actuality, nothing was wrong with the bones in their necks. Turner also had lab work done on his patients, which revealed that they had typical blood cell counts and chemistry, meaning there were no abnormalities in their blood composition or urine samples. With the lab work and the absence of bone deformities, Turner ruled out any other diagnosis and could not find the cause of the set of symptoms he observed. 

From 1932 to 1937, Turner also became one of the first physicians to attempt to treat the lack of sexual development due to Turner syndrome with gonadotropic-hormone-based injections. Gonadotropic hormones are chemicals that regulate reproduction in the female body by regulating puberty, sexual development, and the release of eggs from the ovaries. The lack of gonadotropic hormones results in infertility in people with Turner syndrome. Turner tried three different types of hormone treatments and found that none of them were very effective in increasing the stature of his patients, but the gonadotropic-hormone-based injections were the most effective in progressing the stunted sexual development. Thus, his findings initiated research on treatment options for people with Turner syndrome.

In 1938, Turner published and presented his findings from the work he conducted on Turner syndrome between 1932 and 1937, and the OU College of Medicine promoted him. After publishing his article on Turner Syndrome, he relayed one of the first observations and treatment options on Turner syndrome at the annual meeting of the Association for the Study of Internal Secretions, called the Endocrine Society as of 2024, in San Francisco, California. In the same year, Turner stepped down from his Assistant Professor of Medicine position. However, in 1947, the OU College of Medicine promoted Turner to Associate Dean of Faculty in the College of Medicine, which he carried out for two years.

Learning More About the Symptoms of Turner Syndrome

In 1950, Turner produced a follow-up article about Turner syndrome to review its symptoms. To write that piece, Turner compiled data from his own observations of his previous patients, as well as the observations that other researchers made after he published his 1938 paper. The different cases from other researchers allowed Turner to define more of the symptoms of Turner syndrome beyond the set of symptoms he observed before. In addition to the previous symptoms of Turner syndrome that he noted in his 1938 paper, in his 1950 paper, he pointed out that people with Turner syndrome often had a narrow aorta, which is one of the primary blood vessels in the heart, a stockier build, widely spaced nipples, and various eye disorders including lack of pigment in the retina, bulging eyes, droopy eyelids, and closely spaced eyes.

Turner also clarified in his 1950 paper that he suspected the symptoms of Turner syndrome were likely congenital anomalies. A congenital anomaly is a condition or defect that originates before birth and can affect the infant after birth. For example, Turner claims that individuals with Turner syndrome often experience congenital ovarian failure, which is when the ovaries do not produce the hormones needed to release eggs, resulting in infertility, because of a development problem that occurred before birth, rather than after birth.

In the same 1950 publication, Turner reviews the effectiveness of various hormone injections as treatment methods for Turner syndrome, and he claims that estrogen injections work best. He describes that in 1950, there was little information on whether giving patients hormones, such as estrogen, would help them grow to reach average human stature. Turner explains that he suspected that if he gave a patient a sex hormone, like estrogen, with gonadotropic-based hormone injections early in life, it would lead to better growth promotion of the patient. However, he states that he found that estrogen did not help in the growth of stature or increasing fertility, but it did promote sexual development. For example, the estrogen treatment increased the size of the patient’s breasts, vagina, uterus, and the amount of pubic hair. According to Turner, the estrogen treatment likely started some form of menstruation, which is uncommon in people with Turner syndrome, and he suggests that when a patient with Turner syndrome uses estrogen as a treatment, they should stop taking it once a month to allow for uterine bleeding.

Analyzing the Chromosomal Cause of Turner Syndrome

In 1959, another research team discovered the chromosomal cause of Turner syndrome as a missing X chromosome, and Turner confirmed their finding in a 1962 paper where he analyzed the chromosomes of twins with Turner syndrome. After learning about the chromosomal cause of Turner syndrome, Turner continued researching the disorder with Juan Zanartu, another physician from the OU College of Medicine. Together, Turner and Zanartu collected genetic samples for a set of female twins to reconfirm the chromosomal cause of Turner syndrome. Since the twins were identical, their physical statures, bone structures, and blood types were all the same. When analyzing the cells of the twins, they found indications of a missing X chromosome in most of the twins’ cells, confirming the idea that a missing X chromosomes causes the symptoms of Turner syndrome.

In the same 1962 paper, Turner and Zanartu found discrepancies in the sexual presentation of the cells between the twins, indicating that they had what is, as of 2024, called Mosaic Turner syndrome. Turner and Zanartu tested the white blood cells of both twins in their study, and they found that, unlike many of their other cells, their white blood cells were not missing an X chromosome and instead had the two X chromosomes that are typically present in biological females. The phenomenon they identified is chromosomal mosaicism, which occurs in many multicellular organisms. Mosaicism is where the chromosomal patterns present differently in different cells. Mosaic Turner syndrome is essentially where some cells are missing an X chromosome and other cells have both X chromosomes. The mosaic form of Turner syndrome can result in less severe symptoms than when individuals are fully missing X chromosomes in all cells.

In 1966, The OU College of Medicine appointed Turner as Professor Emeritus of Medicine.

Research on Turner Syndrome after Turner

Turner’s 1938 paper on his observations of Turner syndrome was a base point for many researchers to continue their understanding of the complexities of the disorder and its symptoms. As of 2024, researchers continue to revisit his work to either revise or add to their understanding of Turner syndrome. In 1998, Gravholt and colleagues, a team of physicians and researchers from Denmark, explored the disorder to determine why morbidity in Turner syndrome is so high. Morbidity is the state of having a medical condition or symptoms caused by that medical condition. They found that people with Turner syndrome have a set of conditions that increase the risk of bone fractures, diabetes, and heart conditions, which contributes to the increased rate of morbidity.

Over time, researchers also began to study the social development of people with Turner syndrome. For example, in 2011, Hong and colleagues, a group of physicians and a psychologist from the US, found that people with Turner syndrome, from the ages of three to twelve, did not perform as well as others on tests of social competence, which entails having skills that allow them to understand and work with others. The research reiterates the importance of studying, understanding, and supporting the social development of people with Turner syndrome during the ages of three to twelve so that they are prepared to face social demands. As of 2024, researchers still refer to the condition where females are born without an X chromosome as Turner syndrome.

Turner syndrome is a rare disorder, and since Turner wrote about the disorder, researchers’ attempts at labeling it as intersex have resulted in discrepancies and controversies among both individuals with Turner syndrome and medical professionals. Biologist Richard Goldschmidt was one of the first to use the term intersex. According to Elizabeth Reis, author and professor of gender studies at the University of Oregon in Eugene, Oregon, since then, the term has remained controversial. However, groups such as the Intersex Society of North America have strived to reclaim the term, allowing for broad labeling of many different sexual development conditions as intersex conditions. Reis further explains that others have associated the term intersex with negative ideas, and many individuals with Turner syndrome felt the word did not describe them accurately. According to Leonard Sax, physician, psychologist, and author, most physicians do not think the term intersex applies to conditions like Turner syndrome. Reis instead explains that physicians describe Turner syndrome as a disorder of sex development, as it provides more clarity on an individual’s condition than using the term intersex, which typically applies to conditions that result in a person developing sexual characteristics that do not fit typical patterns for biological males and females. However, people who label themselves as intersex found the term “disorder” inapplicable for their condition. Reis suggests that, alternatively, people should use the term divergence of sex development, rather than “disorder,” because medical professionals can still use the term as needed, but it does not result in a labelling people who have Turner syndrome as needing to be fixed.

Turner’s Impact

Throughout his lifetime, Turner published over thirty scholarly papers and acquired many honors and awards, such as the Schering Scholar of Endocrinology in 1951. The Schering Scholar of Endocrinology is an award given by The Endocrine Society and sponsored by the Schering Corporation that grants funds to figures who have established themselves in endocrinology and want to continue to do work in that field. In 1961, Turner also received the Certificate of Merit of the Endocrine Society for his work as a physician, his research on Turner syndrome, his teaching position at OU College of Medicine, and his involvement in the Endocrine Society. In the same year, Turner received the Seale Harris medal from the Southern Medical Association, which the association awards to physicians who have contributed to the field of endocrinology, metabolism, or nutrition. Turner was also a part of many societies, such as The Endocrine Society, which is an organization with members all over the world that focuses on progressing research on hormones as well as improving the practice of endocrinology.

According to physician and researcher Gerald Bradley Schaefer, Turner loved to grow exotic orchids and gained his interest in them after a trip to South America, where he spoke for the Endocrine Society. Turner’s colleagues stated that he was a persistent smoker. Later in life, Turner showed pulmonary signs and eventually developed lung cancer.

Turner died on 4 August 1970 due to complications from lung cancer.