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How did Henry Turner discover Turner syndrome?

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Henry Turner discovered Turner syndrome by observing patients with endocrine disorders, according to Healio.com. His work as a consulting endocrinologist paved the way to his discovery of the syndrome.

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Turner is considered a pioneer in endocrinology and is well known for publishing a paper in 1938 that first recognized the existence of the syndrome that was named after him, says Healio.com. The manuscript entitled “A Syndrome of Infantilism, Congenital Webbed Neck and Cubitus Valgus” reported the unique condition of seven patients.

Turner published at least 30 papers related to endocrine disorders by the time he retired in 1969, states Healio.com. In his initial observations of seven patients, Turner detected that nonmaturing girls showed a noticeable pattern in physical characteristics, particularly a short height, short necks, a higher carrying angle at the elbow and a low hairline. He eventually found out that all of these patients experienced an improved physical appearance after taking estrogen therapy. The girls developed breasts and had a bigger uterus.

Most females with Turner’s syndrome often do not get diagnosed until they are 10 years old, notes The Endocrine Society. In untreated girls, the typical height is 4 feet and 8 inches; however, those who are diagnosed early and undergo growth hormone therapy can attain a height that’s closer to the normal adult stature.

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