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Turner Syndrome Monitoring Program

A planned program for cardiac, renal, growth, and pubertal monitoring in girls with 45,X0 or mosaic karyotype.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Çocuk Sağlığı ve Hastalıkları department. Book Appointment →

What is Turner Syndrome Monitoring Program?

Turner syndrome is the most common sex chromosome anomaly in females and occurs in approximately 1 in 2500 live female births. The karyotype is usually 45,X0; mosaic (45,X/46,XX or 45,X/46,XY) and structural abnormalities are also seen.

Clinically, short stature, ovarian dysgenesis and primary amenorrhea, webbed neck appearance, low hairline, cubitus valgus, and congenital heart diseases (especially bicuspid aortic valve and aortic coarctation) are seen. Renal anomalies, otitis media, learning difficulties, and autoimmune diseases may also accompany.

The monitoring program includes cardiac (echocardiography, cardiac MRI), renal ultrasonography, hearing screening, thyroid and autoimmune disease screening, growth, and pubertal monitoring. Growth hormone therapy and low-dose estrogen/progesterone regimen are standard treatment.

Symptoms

Short stature
Webbed neck appearance
Cubitus valgus
Wide chest and widely spaced nipples
Primary amenorrhea and pubertal delay
Congenital heart diseases (bicuspid, coarctation)
Lymphedema (newborn)

Risk Factors

Antenatal cystic hygroma or hydrops
Family history of Turner syndrome
Intrauterine growth retardation
History of early menopause (in mother)
Unbalanced X chromosome rearrangement
Mosaic karyotype

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Newborn lymphedema and swelling
  • Short stature and growth retardation
  • Pubertal delay
  • Recurrent otitis media
  • Thyroid dysfunction or celiac findings

Treatment Methods

01
Diagnosis with karyotype analysis
02
Echocardiography and cardiac MRI
03
Renal ultrasonography
04
Annual thyroid and autoimmune disease screening
05
Growth hormone therapy
06
Low-dose estrogen-progesterone (puberty induction)

Which Department to Visit?

You can visit our Çocuk Sağlığı ve Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Çocuk Sağlığı ve Hastalıkları Department

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You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.