The Turner Syndrome , also under the synonyms Turner syndrome ( UTS ) or monosomy X (formerly state Bonnevie-Ullrich ), is occurring in women congenital disease (gonadal dysgenesis with hypogonadism) with a variety of symptom possibilities, the cause of a gonosomal Monosomy is. With this chromosome aberration , instead of two sex chromosomes (XX or XY) there is only one functioning X chromosome in the body cells.
As early as 1929, the German pediatrician Otto Ullrich reported abnormalities in Ullrich-Turner syndrome. The abnormality was first described from a scientific point of view by the American endocrinologist Henry H. Turner (1892–1970) in 1938. 50% of affected women have the karyotype 45, X (or 45, X0), while around 40% of those affected have a mosaic in which there are both cells with one and cells with two or more X chromosomes.
The cause of the syndrome is an incorrect distribution of the chromosomes, usually during postmeiotic germ cell division , i.e. the development of the parents' sperm or egg cell; the error usually occurs on the paternal side and a sperm with only 22 chromosomes is formed (instead of 23, X or 23, Y). Theoretically, this can happen with all chromosomes - but it can only lead to a viable organism in the gonosomes. However, 95-99% of the 45, X pregnancies also end in an abortion and are thus the most common cause of spontaneous abortions. Either one gonosome is missing completely in all cells (45, X or 45, X0), or there is a structurally abnormal X chromosome (the second X chromosome is circular or smaller), or a mosaic with a so-called marker is created Chromosome (45, X / 46, X, mar) or other combinations (45, X / 46, XX), (45, X / 46, XY), (45, X / 47, XXX).
Out of 2500 births of girls, one is born with Ullrich-Turner syndrome. This makes Turner syndrome the most common form of gonadal dysgenesis in women. It is estimated that around 3% of female embryos have a functional monosomy X, of which around 98-99% die in the course of pregnancy , which then usually ends with a miscarriage within the first three months of pregnancy.
- Prenatally (prenatal), a sometimes very pronounced nuchal transparency is often noticed on ultrasound . In severe forms, which usually have a heart defect - typically coarctation of the aorta - the accumulation of fluid can also show up as hygroma colli , dorsonuchal edema or hydrops fetalis .
- Cord gonads : non-functional, connective tissue degenerated ovaries (ovaries), so-called streak ovaries. At the time of the actual menarche, the ovaries no longer contain any follicles and cannot produce any estrogens with the resultant infertility .
- Occasional malformations of internal organs, especially of the heart and aorta (often coarctation of the aorta ), kidneys ( horseshoe kidney , renal agenesis ) and ureters, skeleton and ligamentous apparatus
- Swelling of the hands and feet ( lymphedema ) in newborns and adults
- Middle ear infections in childhood
- Liver spots (benign pigmented nevi) (often particularly many and / or particularly large)
- flat, shield-shaped chest , wide nipple distance
- hairline pulled down at the nape of the neck
- Pterygium colli, a wing-shaped fold of skin on the neck that lies between the mastoid process and the acromion of the shoulder blade
- Short stature (average adult height of approximately 145 cm, although the height can be increased by giving growth hormones )
- Usually delayed puberty with no spontaneous development of the secondary sexual characteristics (breast, fat distribution), which can, however , be initiated by the administration of female sex hormones
- Missing menstruation (menstrual bleeding / period), which can be steered into the usual cycle by administering hormones. However, due to the lack of follicles in the ovaries, infertility persists.
- Increased risk of osteoporosis
- Cubitus valgus with increased deviation of the forearm compared to the upper arm
- Ear dysplasia
- Nail dysplasia
- Keratoconus (disease of the cornea)
The intelligence of girls or women with Turner syndrome is average. The life expectancy is not reduced. Often the UTS is only discovered at elementary school age, as the girls were previously inconspicuous.
Girls / women with Turner syndrome can lead a normal life and develop largely regularly through hormone treatment from the age of 12 onwards. The infertility remains by not to because of the lack of follicles usually ovulate enabled ovaries exist. If you wish to have children, egg donation treatment could be carried out, but this is currently prohibited in Germany.
Although 98% of the affected embryos still die in the womb, Turner syndrome is the only case that allows development when there are too few chromosomes. This is due to the double gene activity of the X chromosome , which compensates for the lack of gene activity on the Y chromosome in men . Treatment of the malformations is also possible, for example by giving growth hormones to prevent short stature. The affected child is injected with growth hormone every day from around the age of 4 to reduce short stature. However, there is no absolute guarantee of success for this therapy.
Normally, from the age of twelve, treatment with the female sex hormones (estrogens) is carried out, which are supposed to induce breast formation. Progesterones, which lead to the onset of menstruation, are added later.
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- Thomas Mohnike : A life with Ullrich Turner syndrome . (PDF) patient brochure. Illustrations: Heide Henschel. Turner Syndrome Association Germany V., Frankfurt / M. 2015.
- Klaus Sarimski: Developmental Psychology of Genetic Syndromes. 3. Edition. Hogrefe, Göttingen 2003, ISBN 3-8017-1764-X .
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- Natura biology for vocational high schools. Professional advanced level. Stuttgart 2011, ISBN 978-3-12-045306-2 , p. 125.
- Anne-Christine Ermisch: X TIMES DIFFERENT - Ullrich Turner Syndrome - yes and ?! 2014 ISBN 978-3-86468-816-4 , p. 144
- Lois Jovanovic, Genell J. Subak-Sharpe: Hormones. The medical manual for women. (Original edition: Hormones. The Woman's Answerbook. Atheneum, New York 1987) From the American by Margaret Auer, Kabel, Hamburg 1989, ISBN 3-8225-0100-X , pp. 53, 262 f. and 386.
- www.turner-syndrom.de - Turner Syndrome Association Germany e. V.
- Mice raised without mothers . n-tv.de - From genetically emasculated cells: d. H. artificially produced monosomy X in (mammals) animals
- List of syndromes
- Pseudoautosomal region
- Turner tooth , a deformed tooth that has nothing to do with Turner syndrome.
- Heinz-Peter Schmiedebach : Turner, Henry Hubert. In: Werner E. Gerabek , Bernhard D. Haage, Gundolf Keil , Wolfgang Wegner (eds.): Enzyklopädie Medizingeschichte. De Gruyter, Berlin / New York 2005, ISBN 3-11-015714-4 , p. 1425.
- HH Turner: A Syndrome of Infantilism, Congenital Webbed Neck, and Cubitus Valgus . In: Endocrinology . Volume 23, 1938, pp. 566-574.
- Gustav-Adolf von Harnack, Berthold Koletzko: Pediatric and Adolescent Medicine . Springer-Medizin-Verlag, Heidelberg 2007, ISBN 978-3-540-48632-9 .
- Marion Kiechle: Gynecology and Obstetrics . Elsevier, Urban & Fischer, Munich 2011, ISBN 978-3-437-42407-6 .
- Heinrich Schmidt-Matthiesen, Dietrich von Fournier: Gynecology and obstetrics textbook for study and practice . Schattauer, Stuttgart 2004, ISBN 3-7945-2260-5 .
- M. Macsai, E. Maguen, P. Nucci: Keratoconus and Turner's syndrome. In: Cornea . Volume 16, Number 5, September 1997, pp. 534-536, PMID 9294684 ; air.unimi.it (PDF)