FaCD Online Syndrome Fact Sheet

Last updated: 28 Apr 2008

Name: Turner syndrome

Synonym: 45, X

Mode of Inheritance: not applicable

Tumor features

colon cancer

Tumor features (possible)

endometrial cancer
glioma of the brain
melanoma, cutaneous
meningioma
parathyroid adenoma
urinary bladder cancer

Non-tumor features

45, 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.