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Turner Syndrome, Pediatric

John S. Fuqua, MD Reviewed 10/2018
 


BASICS

DESCRIPTION

Presence of typical findings in a phenotypic female with complete or partial absence of the second sex chromosome 

EPIDEMIOLOGY

Prevalence: 1:2,000 to 5,000 liveborn females 

RISK FACTORS

DIAGNOSIS

HISTORY

  • Intrauterine growth retardation

  • Slow postnatal growth, beginning in infancy

    • Eventual short stature

  • Lymphedema, especially in infancy

  • Frequent otitis media and middle ear effusions

  • Normal o...

TREATMENT

GENERAL MEASURES

  • Treatment of girls with Turner syndrome focuses on promoting linear growth and pubertal maturation as well as screening for and managing other associated conditions.

  • Spontaneo...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

  • Age 4 to 5 years

    • Assessment of social skills, psychoeducational evaluation prior to school entry

  • Age 5 to 12 years

    • Every year: blood pressure (BP), TSH, LFTs, educat...

ADDITIONAL READING

  • Bondy CA; and Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab.  2007;92(1):10...

CODES

ICD9

758.6 Gonadal dysgenesis 

ICD10

  • Q96.9 Turner’s syndrome, unspecified

  • Q96.0 Karyotype 45, X

  • Q96.1 Karyotype 46, X iso (Xq)

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

  • Q96.2 Karyotype 46, X w abnormal sex c...

FAQ

  • Q: Are older parents at increased risk to have a child with Turner syndrome?

  • A: No. Turner syndrome is not associated with either advanced maternal or paternal age.

  • Q: Are there special precautions ...

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