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  • Short stature with normal GH levels.

  • Primary amenorrhea or early ovarian failure.

  • Epicanthal folds, webbed neck, short fourth metacarpals.

  • Renal and cardiovascular anomalies.

Turner syndrome comprises a group of X chromosome disorders that are associated with spontaneous abortion, primary hypogonadism, short stature, and other phenotypic anomalies (Table 26–15). It affects 1–2% of fetuses, of which about 97% abort, accounting for about 10% of all spontaneous abortions. Nevertheless, it affects about 1 in every 2500 live female births. Patients with the classic syndrome (about 50% of cases) lack one of the two X chromosomes (45,XO karyotype). About 12% of patients harbor mosaicism for Y chromosome sequences. Other patients with Turner syndrome have X chromosome abnormalities, such as ring X or Xq (X/abnormal X) or X chromosome deletions affecting all or some somatic cells (mosaicism, XX/XO).

Table 26–15.Manifestations of Turner syndrome.


Clinical Findings

A. Symptoms and Signs

Features of Turner syndrome are variable and may be subtle in girls with mosaicism. Turner syndrome may be diagnosed in infant girls at birth, since they tend to be small and may exhibit severe lymphedema. Evaluation for childhood short stature often leads to the diagnosis. Girls and women with Turner syndrome have an increased risk of aortic coarctation and bicuspid aortic valves; these cardiac ...

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