Approach to the Patient With Turner Syndrome

Abstract

Turner syndrome is diagnosed in a female individual with partial or complete loss of the second sex chromosome and is reported in 1 in 2000 to 1 in 2500 live births. Common features include short stature and ovarian dysgenesis; subsequent ovarian insufficiency leading to delayed/absent puberty and infertility in the majority. It is associated with increased morbidity and mortality, due to comorbidities occurring throughout the lifespan, including congenital and acquired cardiovascular abnormalities, autoimmune disease, osteoporosis and other skeletal abnormalities, and metabolic dysfunction as well as neurocognitive challenges. Management may involve coordination of several specialties in addition to patient/relative information and support. Treatment with growth hormone during childhood and adolescence and sex hormone replacement therapy forms the cornerstone of medical treatment. Recent review of evidence and development of recommendations inform a practical approach to management with an aim to reduce morbidity and thus improve outcomes in the future.

Keywords: Turner Syndrome; aortic dilatation; autoimmunity; ovarian insufficiency; puberty.

Figure 1.

Lifespan of a person with Turner syndrome (TS). The central graph illustrates the typical age of diagnosis of TS and emphasizes that while diagnosis is commonly in childhood/adolescence, patients may be diagnosed later in life. The inner ring (blue) illustrates which methodology can lead to diagnosis. It includes noninvasive prenatal testing (NIPT) and chorionic villus sampling (CVS); however, in those individuals with prenatal diagnosis, postnatal confirmation check of karyotype should be performed in all individuals. The yellow ring is divided into 4 periods of life that need special attention in the care of an individual with TS. The green lines illustrate the typical time points when different comorbidities in TS can be diagnosed and when issues such as fertility and cardiovascular risk should be considered, and the red lines illustrate when GH and HRT may be relevant. To the left, boxes mention the most common comorbidities present in TS and frequent reasons for the excess mortality seen in TS.

Figure 2.

Cardiac imaging in Turner syndrome. A and B, Computed tomography scans of ascending and descending aorta, demonstrating dilated ascending aorta with dissection flap, marked with arrow extending from dilated aortic root, marked with star, through ascending aorta to descending aorta. C and D, Transthoracic echo demonstrating type 1 bicuspid aortic valve; panel C is open valve and panel D is closed valve. Anterior-posterior leaflets are marked with a star.

Figure 3.

Cardiac alert card. Wallet-sized card for patients to carry, highlighting symptoms of concern for aortic dissection and action to take, to show to medical personnel in an emergency (locally developed and supported by Turner Syndrome Support Society, with permission) (37).

Figure 4.

Approach to discussion of fertility and pregnancy when reviewing a patient with Turner syndrome (1, 38).

Figure 5.

Summary patient cardiovascular assessment and management pathway to consider in every individual with Turner syndrome. Abbreviations: ABPM, ambulatory blood pressure monitoring; ACEI, angiotensin-converting enzyme inhibitor; AHI, aortic height index (mm/m); ARB, angiotensin II receptor blocker; ASI, aortic size index (cm/m²); BAV, bicuspid aortic valve; BB, beta-blocker; CA, coarctation of the aorta; HBPM, home blood pressure monitoring; LVH, left ventricular hypertrophy; MDT, multidisciplinary team discussion; TTE, transthoracic echocardiogram; Z, Z score.

Figure 6.

Multidisciplinary management of patients with Turner syndrome (TS). The figure depicts a model for care of an individual with TS; the patient is central with hospital monitoring (vigilant routine and “ad hoc” for management of intercurrent morbidity) and provision of advice regarding treatment. Importantly, it includes ongoing research and databases in order to optimize longer term outcomes.