- Fuller Albright
- Giovanni Battista Morgagni
- Henry Hubert Turner
- Nikolai Adolfovich Shereshevsky
- Otto Ullrich
Congenital endocrine disorder caused by failure of the ovaries to respond to pituitary hormone stimulation. Clinically there is short stature (105-130 cm); absence of secondary sexual characteristics, with infantile development of the vagina, uterus and breast; failure of sexual maturation, webbing of the neck and inconsistent cardiac defects. Intelligence may be impaired. Ocular abnormalities include strabismus and nystagmus; cardiac abnormalities are coarctation of aorta (70%), or other cardiovascular lesions almost constantly affecting left heart. Lymphedema of extremities (30-40%). Occasionally, anomalies of bone development such as protuberance of sternum, high palate, underdeveloped mandible.
One of the most common chromosome abnormalities. These patients usually have only 45 chromosomes, the second X-chromosome being absent. Frequency at conception is thought to be 1,5%, but most affected foetuses abort spontaneously, and the residual birth frequency is between 1/2500 and 1/3500. Rare in males. Depression to a psychotic degree can be a complication.
Probably first described by Giovanni Morgagni in 1768. Sheresewskii in 1925 documented a woman aged 25 years with the classical phenotype. In 1929 at a meeting of the Munich Paediatric Society, Ullrich presented a girl aged eight years with abnormalities which included a webbed neck, stunted stature, cubitus valgus and an unusual facial appearance. He published an account of his patient in the following year. In 1938 Henry Turner reported seven young women with sexual infantilism, laxity of the skin of the neck, short stature and retarded bone age, all of which he attributed to a primary defect in the anterior pituitary gland. The condition was redefined as a syndrome of ovarian insufficiency in 1942 by Fuller Albright. In 1943 the condition was worked over by Sheresewskii. The basic chromosomal aberration was first described in 1959 by Charles Ford (genetician, Oxford), et al., after the Italian-British geneticist Paolo Polani (London) and collaborators as early as in 1954 had discovered the absence of an X-chromosomal body.
There has been controversy as to whether Ullrich's contribution warranted eponymous recognition, as some authors believed that the girl he described in 1930 actually had the Noonan syndrome. This issue was settled in 1991, when Hans-Rudolf Wiedemann and C. J. Glazl restudied this patient, now 66 years of age, and demonstrated that her chromosome constitution was 45, XO. In their article these authors depicted the patient in early childhood and mature adulthood.
The condition has generally been known as Turner's syndrome in the American and English literature, and as the Ullrich-Turner syndrome in publications from the Continent of Europe. In Russia it is commonly referred to as Sheresewski's syndrome.
A clinically similar syndrome is termed Noonan's syndrome - pseudo Turner's syndrome. Besides the typical Turner's syndrome there are rare occurances of a male Turner's syndrome with corresponding chromosome anomalies.
Bonnevie-Ullrich syndrome, or pterygium-colli syndrome, under Kristine Elisabeth Heuch Bonnevie, Norwegian zoologist and geneticist, 1872-1950.
- G. B. Morgagni:
Epistola anatomica medica. 1768; XLVII, art. 20.
- N. A. Shereshevskii:
In relation to the question of a connection between congenital abnormalities and endocrinopathies.
The Russian Endocrinologiclal Society on Novemebr 12th, 1925.
- O. Ullrich:
Über typische Kombinationsbilder multipler Abartungen.
Zeitschrift für Kinderheilkunde, Berlin, 1930, 49: 271. Turner's syndrome and status Bonnevie-Ullrich.
American Journal of Human Genetics, Chicago, 1949, 1: 179-202.
- H. H. Turner:
A syndrome of infantilism, congenital webbed neck, and cubitus valgus.
Endocrinology, Baltimore, 1938, 23: 566-574.
- F. Albright and P. H. Smith:
A syndrome characterized by primary ovarian insufficiency and decreased stature. Report of eleven cases, with a digression on hormonal control of axillary and pubic hair.
American Journal of the Medical Sciences, Thorofare, N.J., 1942, 204: 625-648.
- R. F. Varney, A. T. Kenyon, F. C. Koch:
An association of short stature, retarded sexual development and high urinary gonadotropin titers in women. Ovarian dwarfism.
The Journal of Clinical Endocrinology, 1942, 2 (3): 137-145.
- N. A. Shereshevskii:
A syndrome of endocrine origin.
American Review of Soviet Medicine, 1943, 1: 337.
- P. E. Polani, W. F. Hunter, B. Lennox:
Chromosomal sex in Turner’s syndrome with coarctation of the aorta.
Lancet, London, 1954, II: 120-121.
- C. E. Ford, K. W. Jones, P. E. Polani, J. C. de Almeida, J. H. Briggs:
A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's Syndrome). Lancet, London, 1959, I: 711.
- Hans-Rudolf Wiedemann:
Follow-up of Ullrich's original patient with "Ullrich-Turner" syndrome.
American Journal of Medical Genetics, New York, 1991, 41: 134-136.
- Friedrich Kollmann:
Die Entdeckungsgeschichte des Ullrich-Turner-Syndroms.
Herausgegeben von Ingeborg Eckert und Otto Hövels. Hildesheim, 1992.
Frankfurter Beiträge zur Geschichte, Theorie und Ethik der Medizin. Volume 13.
Senckenbergisches Institut für Geschichte der Medizin,
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt am Main.