Current controversies in turner syndrome: Genetic testing, assisted reproduction, and cardiovascular risks

Abstract

Patients with Turner syndrome (TS) require close medical follow-up and management for cardiac abnormalities, growth and reproductive issues. This review summarizes current controversies in this condition, including: 1) the optimal genetic testing for Turner syndrome patients, particularly with respect to identification of Y chromosome material that may increase the patient's risk of gonadoblastoma and dysgerminoma, 2) which patients should be referred for bilateral gonadectomy and the recommended timing of such referral, 3) options for assisted reproduction in these patients and associated risks, 4) the increased risk of mortality associated with pregnancy in this population, and 5) how best to assess and monitor cardiovascular risks.

Keywords: AMH, anti-Mullerian hormone; ART, assisted reproductive technology; ASI, aortic size index; Aortic dissection; BSA, body surface area; CAIS, complete androgen insensitivity syndrome; Cardiac MRI; EKG, electrocardiogram; FISH, fluorescent in situ hybridization; FSH, follicle stimulating hormone; Genetic testing; Gonadoblastoma; IVF, in vitro fertilization; Infertility; MRI, magnetic resonance imaging; PAPVR, partial anomalous pulmonary venous return; PCR, polymerase chain reaction; SRY, sex-determining region of Y; TSPY, testes-specific protein Y-linked; Turner syndrome.

Figure 1

Recommended genetic testing for Turner syndrome.