Turner Syndrome

Complete or partial absence of an X chromosome in females (45,X).

Written by: Saygı Hospital Health Guide Editorial Board

Last updated: June 10, 2026

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

References (5)

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

What is Turner Syndrome?

Turner syndrome is a chromosomal anomaly resulting from complete (45,X) or partial (mosaic forms) absence of one X chromosome in females. It occurs in approximately 1 in 2500 live female births.

Clinically characterized by short stature, gonadal dysgenesis, neck webbing (pterygium colli), broad chest, cardiac (bicuspid aortic valve, aortic coarctation) and renal anomalies (horseshoe kidney). Although puberty and development are usually at normal cognitive level, specific learning difficulties may be seen.

Early diagnosis, growth hormone therapy, and appropriate hormone replacement significantly improve height, bone health, and quality of life.

Symptoms

Short stature and growth retardation

Primary amenorrhea

Pterygium colli (neck webbing)

Low hairline

Broad chest with widely spaced nipples

Lymphedema (especially in newborn period in hands and feet)

Cardiac and renal anomalies

Risk Factors

Random chromosome loss

No familial clustering

Prenatal diagnostic options

Maternal age effect not significant

Nuchal edema on ultrasonography

Anomaly detection in prenatal screening

Genetic consultation may be needed

When to See a Doctor?

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

Lymphedema of hands and feet in the newborn
Significant growth retardation in children
Pubertal delay or primary amenorrhea
Cardiac murmur and congenital heart disease
Recurrent middle ear infections and hearing loss

Treatment Methods

Growth hormone therapy (usually started at 4-6 years)

Estrogen-progesterone for puberty induction

Gradual increase of low-dose estrogen

Surgical follow-up of cardiac anomalies

Osteoporosis and autoimmune disease screening

Psychosocial support and fertility counseling

Which Department to Visit?

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

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Let us help you

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.