Intractable Rare Dis Res. 2018;7(4):223-228. (DOI: 10.5582/irdr.2017.01056)

A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment.

Cui XX, Cui YZ, Shi L, Luan J, Zhou XY, Han JX


Turner syndrome (TS), also known as Congenital ovarian hypoplasia syndrome, occurs when the X chromosome is partially or completely missing in females. Its main clinical manifestations include growth disorders, reproductive system abnormalities, cardiovascular abnormalities, and autoimmune diseases. TS is highly prevalent in China. Timely diagnosis is crucial, and non-invasive prenatal DNA testing can identify TS and other diseases. Treatment of TS mainly involves administration of growth hormone combined with very low doses of estrogen to increase the patient’s height. This article describes the incidence, complications, diagnosis, and treatment of TS.

KEYWORDS: Turner syndrome, clinical features, diagnosis, treatment, complication

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