Synonym(s)
45; Gonadal Dysgenesis; Morgagni-Turner Syndrome; pterygonuchal infantilism; Seresewski-Turner syndrome; Turner's syndromes; Ullrich-Turner Syndrome; X0 syndrome; X45 syndrome; XO Syndrome; X Syndrome
HistoryThis section has been translated automatically.
Morgagni, 1768; Ullrich, 1930; Turner, 1938
DefinitionThis section has been translated automatically.
Phenotype of chromosomal aberration 45, X with the predominant findings of dwarfism and gonadal dysgenesis.
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EtiopathogenesisThis section has been translated automatically.
- Karyotype 45, X. Monosomy probably of postzygotic origin (mosaicism is relatively common, no maternal age effect). In about 4/5 of the cases loss of the paternal sex chromosome (X or Y), no difference in distribution between newborns and hydropic fetuses. Milder clinical pictures are often associated with mosaic 45, X with either 46, XY or a cell line with structurally aberrant X such as ring, deletion, isodicentric chromosome, 47, XXX, 46, XY or X with structurally abnormal Y.
- Pathogenetically, numerous findings are explained by delayed and defective development of the lymphatic vessel system (peripheral lymphedema, pterygium as a residual condition of the cervical hygroma, protruding ears, ascites, pleural effusion). Intrauterine dead fetuses with 45, XO (estimated at 90 to 95% of all conceptions with this karyotype) generally show massive hydrops, i.e. a general lymph vessel dysplasia.
Clinical featuresThis section has been translated automatically.
- Short stature: adult size without therapy 1.35 to 1.45 m. Broad stature, tendency to obesity.
- Gonads: Gonadal dysgenesis, primary amenorrhea (99% of patients), oligomenorrhea (1%), hypergonadotropic hypogonadism (absence of puberty signs).
- Facial dysmorphia: Diminished facial expression (sphinx face), antimongoloid position of the lid axis, epicanthus, ptosis, strabismus, drooping upper eyelids, sloping corners of the mouth, small chin, narrow palate, elongated, protruding ears.
- Neck: Short, in 15% with pterygium colli, deep hairline in the neck.
- Extremities: Cubitus valgus, shortening of the fourth metacarpalia and metatarsalia, accumulation of vertebral patterns on the fingertips.
- Renal anomalies: horseshoe kidneys, unilateral agenesis or doubling.
- Heart: Especially aortic isthmus stenosis and aberrant large vessels; hypotension.
- Intelligence: Usually normal with weakness in spatial perception and mathematics, strength in languages.
- Also: multiple nevi; café-au-lait spots; thyroid thorax, pectus excavatum, wide nipple space. Inner ear hearing loss.
- Newborns (approx. 5%): edema of hands and feet, sunken and hypoplastic fingernails and toenails, ascites, pleural effusion and other signs of lymphatic dysplasia.
TherapyThis section has been translated automatically.
Causal therapy is not possible. Symptomatic therapy approaches with growth hormones, possibly in combination with androgens and estrogen replacement therapy to preserve bone substance are described.
LiteratureThis section has been translated automatically.
- Ford CE, Jones KW, Polani PE et al. (1959) A sex-chromosome anomaly in a case of gonodal dysgenesis (Turner's syndrome). Lancet I: 711-713
- Hanton L et al (2003) The importance of estrogen replacement in young women with Turner syndrome. J Womens Health (Larchmt) 12: 971-977
- Hogler W et al (2004) Importance of estrogen on bone health in turner syndrome: a cross-sectional and longitudinal study using dual-energy x-ray absorptiometry. J Clin Endocrinol Metab 89: 193-199
- Morgagni GB (1768) Epistola anatomica medica XLVII, Art 20
- Polani PE, Hunter WF, Lennox B (1954) Chromosomal sex in Turner's syndrome with coarctation of the aorta. Lancet II: 120-121
- Turner HH (1938) A syndrome of infantilism: congenital webbed neck and cubitus valgus. Endocrinology 23: 566-574
- Ullrich O (1930) On typical combination pictures of multiple varieties. Z Pediatrics 49: 271
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Aortic isthmus stenosis; Café-au-lait stain; Ear malformations; Eye diseases, skin changes; Gonadal dysgenesis; Hypertelorism; Jacobsen syndrome; Mask face; Morgagni-turner syndrome; Neurofibromatosis noonan syndrome; ... Show allDisclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer