FaCD Online Syndrome Fact Sheet
Last updated: 28 Apr 2008
Name: Turner syndrome
Synonym: 45, X
Mode of Inheritance: not applicable
Tumor featurescolon cancer
Tumor features (possible)endometrial cancer glioma of the brain melanoma, cutaneous meningioma parathyroid adenoma urinary bladder cancer
Non-tumor features45, X and variants (without SRY gene) (constitutional) chest, shield-like coarctation of the aorta cubitus valgus hypergonadotropic hypogonadism kidney, horse-shoe lymphedema of hands and feet nails, deep-set and hyperconvex renal dysplasia short stature streak ovaries
Comment
This disorder is characterized by short stature, lymphedema of hands and feet in the newborn, hygroma colli / webbed neck, shield-like chest, cubitus valgus, deep-set hyperconvex nails, renal anomalies (horse-shoe kidney), coarctation of the aorta, and ovarian failure.
Hasle et al.[1] studied the occurrence of cancer in 597 women with Turner syndrome included in the Danish Cytogenetic Register. A wide range of tumors occurred, however only colon cancer was found to be associated with a significant increase in relative risk (RR): 6.9 ( 95% CI: 2.2-16.2). Parathyroid adenomas have been reported in a few cases[2], whether these are truly associated with Turner syndrome is unknown. The combination 45,X/46,XY (or variants with SRY-gene containing Y material) is known as mixed gonadal dysgenesis.
Schoemaker at al studied cancer incidence in British patients with Turner syndrome[3]. Increased risk of gonadoblastoma, meningioma and childhood brain tumours, and possibly bladder cancer, melanoma, and corpus uteri cancer was observed. In contrast, breast cancer risk was decreased.
References
[1] Hasle H, Olsen JH, Nielsen J, Hansen J, Friedrich U, Tommerup N. Occurrence of cancer in women with Turner syndrome. Br J Cancer 73[9], 1156-1159. 1996.
[2] Francois I, Proesmans W, de Zegher F. Case of the month: A girl with Ullrich-Turner syndrome, nephrolithiasis and hypercalcaemia - Diagnosis: Parathyroid adenoma in Ullrich-Turner syndrome. Eur J Pediatr 155[7], 615-616. 1996.
[3] Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA, . Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study. The lancet oncology 2008; 9(3):239-46.
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