What is the most common clinical finding in a patient with Turner syndrome?

From the Guidelines

The most common clinical finding in a patient with Turner syndrome is short stature, as evidenced by the most recent and highest quality study 1. This growth deficiency becomes apparent in early childhood and becomes more pronounced during adolescence when the pubertal growth spurt fails to occur. The short stature results from haploinsufficiency of the SHOX gene (short stature homeobox-containing gene) located on the X chromosome. Since individuals with Turner syndrome have only one functional X chromosome instead of two, they have reduced SHOX gene expression, which impairs skeletal growth and development. Other common findings include:

• primary amenorrhea
• webbed neck
• low posterior hairline
• broad chest with widely spaced nipples
• lymphedema of the hands and feet but short stature remains the most consistent and often earliest recognizable clinical feature of the syndrome, as supported by previous studies 1. It is essential to note that patients with Turner syndrome are at an increased risk of cardiovascular mortality due to both structural and ischemic heart disease, especially aortic dissection, and that short stature is a critical factor in assessing aortic dissection risk, as it may occur at relatively small aortic diameters 1. Therefore, using absolute aortic diameters alone may underestimate aortic dissection risk, and indexing of aortic diameter to body size or using a Turner syndrome-specific z-score is recommended for accurate assessment 1.

From the Research

Clinical Findings in Turner Syndrome

The most common clinical finding in a patient with Turner syndrome is:

• Short stature, which is the most ubiquitous feature of the condition 2, 3, 4, 5, 6

Prevalence of Short Stature

Studies have shown that:

• Short stature is present in almost all patients with Turner syndrome, with adult stature averaging 20 cm shorter than that of the general population 3
• Short stature is the reason for consultation in 87.1% of patients with Turner syndrome 4
• The final height of untreated Turner syndrome girls is 86-88% of the mean adult female height 5

Treatment and Management

Treatment options for short stature in Turner syndrome include:

• Growth hormone (GH) therapy, which has been shown to be effective in increasing stature in patients with Turner syndrome 2, 3, 4, 5
• Adjunctive therapies with low-dose estrogen or low-dose oxandrolone, which may enhance stature further 3