How did Henry Turner discover Turner’s Syndrome?

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In 1938, Dr. Henry Hubert Turner, a pioneer American endocrinologist, medical practitioner, and educator, published a paper in the Journal of Endocrinology describing what has become known as Turner’s Syndrome (TS). He was the first scientist to describe a condition that affects one in every 2,500 females, having observed a set of common features in some of his patients. Turner’s Syndrome (also called Ullrich-Turner’s Syndrome in honor of the German pediatrician who also described the physical features of TS) is a chromosomal abnormality manifested mainly by short stature and infertility. Dr. Turner’s life and career would lead to circumstances that enabled him to identify his original cases.

Born in 1892 in Harrisburg, Illinois, Dr. Turner completed his undergraduate work at St. Louis University from 1914 to 1918, then worked under Dr. William Englebach, one of the true fathers of endocrinology. After receiving his MD degree from the University of Louisville, he worked under Dr. John Walker Moore, another pioneer in the field of metabolic disorders. He conducted research on the anterior pituitary gland and related problems of growth and showed great interest in the effects the nervous system had in regulating hormone secretion and in ovarian failure. Ahead of his time in the emerging field of neuro-endocrinology, Dr. Turner authored over 30 publications on these subjects.

In an interview in his later years, he described how he had seen a few young girls who had not matured, were short in stature, had short necks and a low hairline, had no breast development and, upon further examination and palpation, were found to have no ovaries whatsoever. He was, of course, describing his original patients. Some of them were still living at the time of the interview and, having responded to estrogen therapy, were living normal lives, except that they could not have children.

While Dr. Turner discovered all these symptoms in 1938, it was not until 1960 when the underlying chromosomal defects were discovered. Turner’s Syndrome results from an abnormality of a chromosome, thin strands of material found in the nucleus of each cell that contain the genes that determine each person’s characteristics. Every individual has 22 pairs of chromosomes and one pair of sex chromosomes (X and Y) that determine whether one is male or female. While a male has one X chromosome and one Y chromosome, a female usually has two X chromosomes. In Turner’s Syndrome, for reasons that have not yet been found, one of the X chromosomes is missing or else is misshapen in most of the cells. The result is poorly developed and non-fully functioning ovaries and all the characteristic features that this implies, including inadequate female hormones and absence of the indications of puberty, menstruation and fully developed breasts, as well as infertility.

Other indications of Turner’s Syndrome are short stature, puffy hands and feet in the first year of life, cross-eyes, short, webbed neck and small chin, pronounced outward bending of the elbows, short fingers and toes, curved, underdeveloped nails, birthmarks, and a broad chest with widely spaced nipples. Aside from these visible signs, Turner’s Syndrome also affects the health of the individual and women with the syndrome may also suffer from hypertension, thyroid disorders, osteoporosis, and abnormalities of the heart, kidney, or urinary tract. Intellectually, while these women have normal intelligence, they may have poor spatial perception and mathematical aptitude, and perhaps learning disabilities.

Some of the women affected by Turner’s Syndrome are diagnosed within six weeks of birth, some during childhood, and still others during adolescence if they fail to mature sexually. Today, modern medical advances have given these girls and women greater hope and opportunity to live normal, productive lives and become full partners in a marriage. Growth hormones can help them reach regular height. Sex hormones can help produce menstruation and develop breasts. Still, without the paper presented in 1938 by an endocrinologist from Oklahoma City, and without his description of the practical uses of estrogen therapy to treat this syndrome, these women would not be where they are today.

Resource by Will

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