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Turner Syndrome

Michele Roberts, MD, PhD Reviewed 06/2019
 


BASICS

DESCRIPTION

  • Turner syndrome (TS) is a condition characterized by ovarian dysgenesis and short stature in phenotypic females who have only one sex chromosome, an X, although a partial second sex ...

DIAGNOSIS

HISTORY

  • Increasingly diagnosed prenatally. When karyotype is obtained in response to suggestive US findings, result is highly specific; when karyotype obtained for other reasons, false-positi...

TREATMENT

MEDICATION

  • Recombinant human GH (rhGH) initiate early, at age 4 to 5 years, with evidence of growth failure, height velocity (6 months observation) <50%, or strong likelihood short stature...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • For 2016 guidelines, see Gravholt et al. (1).

  • Monitoring recommended for any patient with TS regardless of karyotype (1)[B]

  • Multidisciplinary eval...

REFERENCES

1
Gravholt CH, Andersen NH, Conway GS, et al; for International Turner Syndrome Consensus Group. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceeding...

SEE ALSO

Endocrine Society Transitions of Care for Turner syndrome Toolkit: http://www.endocrinetransitions.org/turner-syndrome/ 

CODES

ICD10

  • Q96.9 Turner’s syndrome, unspecified

  • Q96.0 Karyotype 45, X

  • Q96.3 Mosaicism, 45, X/46, XX or XY

  • Q96.8 Other variants of Turner’s syndrome

  • Q96.1 Karyotype 46, X iso (Xq)

  • Q96.2 Karyotype 46, X w ab...

CLINICAL PEARLS

  • TS is the most common sex chromosome abnormality syndrome in females.

  • Edema of the hands and feet and redundant skin of the neck (webbing) are presenting features during infancy. In sch...

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