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Turner Syndrome

Turner Syndrome is a chromosomal disorder affecting females, caused by complete or partial absence of one X chromosome. It commonly causes short stature, ovarian insufficiency, and characteristic physical features.

Also called

Monosomy X

ICD-10

Q96.9

Specialty

Endocrine

Onset

Chronic

Reviewed

August 2026

On This Page

Overview

–Turner Syndrome is a chromosomal condition affecting females and may involve multiple organ systems.

 

-The main clinical features are:

  • Short stature
  • Gonadal dysgenesis
  • Primary ovarian insufficiency
  • Delayed or absent puberty
  • Infertility
  • Characteristic physical features

 

-Important associated conditions include:

    • Congenital heart disease
    • Renal abnormalities
    • Hearing problems
    • Thyroid disease

Etiology & Risk Factors

-Etiology:

Turner Syndrome results from complete or partial loss of one X chromosome.

 

-Common chromosomal patterns include:

  • 45,X
  • Mosaic Turner Syndrome
  • Structural abnormalities of the X chromosome

-Loss of X-chromosome material causes impaired development of the ovaries and other affected tissues.

 

-Risk Factors

  • No major modifiable risk factors are established.
  • Most cases result from random chromosomal abnormalities.

Pathophysiology

Loss of all or part of one X chromosome → impaired ovarian development → gonadal dysgenesis → ↓ estrogen production → delayed/absent puberty + infertility

Loss of X-chromosome genes → abnormal growth and development → short stature + characteristic physical features + cardiovascular/renal abnormalities

Clinical Presentation

-Symptoms:

  • Short stature
  • Delayed puberty
  • Primary amenorrhea
  • Infertility
  • Reduced breast development
  • Fatigue
  • Hearing difficulties

-Signs:

  • Short stature
  • Webbed neck
  • Low posterior hairline
  • Broad chest
  • Widely spaced nipples
  • Cubitus valgus
  • Lymphedema of hands and feet, particularly in infancy
  • Short fourth metacarpals
  • Gonadal dysgenesis

History Taking

-Ask about:

  • Growth pattern
  • Height compared with peers and family
  • Delayed puberty
  • Breast development
  • Menstruation
  • Fertility
  • Hearing problems
  • Recurrent ear infections
  • Cardiac symptoms
  • Hypertension
  • Thyroid symptoms
  • Renal problems

Physical Examination

-General Examination

  • Height
  • Weight
  • Growth velocity
  • Blood pressure

 

-Look For:

  • Short stature
  • Webbed neck
  • Broad chest
  • Low hairline
  • Widely spaced nipples
  • Lymphedema

 

System-Specific Examination

  • Cardiac examination for murmurs and congenital heart disease
  • Pubertal assessment
  • External genital examination
  • Thyroid examination
  • Hearing assessment when indicated

Investigations

-Karyotype

Karyotyping confirms the chromosomal diagnosis.

-Gonadal Function

Typical findings include:

  • Low estradiol

  • High FSH

  • High LH

This indicates hypergonadotropic hypogonadism.

 

-Additional Screening

Assess for associated conditions:

  • TSH and thyroid function

  • Liver function

  • Glucose/HbA1c

  • Lipid profile

  • Renal function when indicated

-Imaging

Echocardiography

Recommended to evaluate:

  • Bicuspid aortic valve

  • Coarctation of the aorta

  • Aortic abnormalities

 

-Cardiac MRI/CT

May be used for detailed assessment of the aorta and congenital cardiovascular abnormalities.

 

-Renal Ultrasound

Used to identify:

  • Horseshoe kidney

  • Renal malformations

  • Other structural abnormalities

 

-Bone Density

DEXA scanning may be used to assess bone mineral density, particularly with prolonged estrogen deficiency.

Diagnosis

-Diagnosis of Turner Syndrome is established by:

Clinical features suggestive of Turner Syndrome → karyotype demonstrating complete or partial X-chromosome loss → assess cardiac, renal, endocrine, hearing, and bone complications

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Management

1. Definitive Treatment

There is no cure for the chromosomal abnormality.

Management focuses on:

  • Promoting normal growth

  • Inducing puberty

  • Replacing estrogen

  • Managing associated conditions

  • Monitoring long-term complications

 

2. Medical Treatment

-Growth Hormone

Recombinant growth hormone may be started during childhood to improve final adult height.

 

-Estrogen Replacement

Used to:

  • Initiate puberty

  • Develop secondary sexual characteristics

  • Maintain bone health

Progesterone is added after adequate estrogen exposure when a uterus is present to provide endometrial protection.

 

-Management of Associated Conditions

Treat:

  • Hypertension

  • Hypothyroidism

  • Diabetes

  • Dyslipidemia

  • Osteoporosis

  • Hearing problems

  •  

3. Surgical / Procedural Treatment

May be required for:

  • Coarctation of the aorta

  • Significant cardiac abnormalities

  • Other structural abnormalities

 

4. Supportive Management

  • Regular growth monitoring

  • Cardiovascular surveillance

  • Renal assessment

  • Thyroid screening

Complications

  • Short stature
  • Primary ovarian insufficiency
  • Infertility
  • Delayed puberty
  • Osteoporosis
  • Bicuspid aortic valve
  • Coarctation of the aorta
  • Aortic dilation/dissection
  • Hypertension
  • Renal abnormalities

Prognosis

-With appropriate monitoring and treatment, many individuals with Turner Syndrome have a good quality of life.

-Prognosis of turner Syndrome is mainly affected by:

  • Cardiovascular disease
  • Aortic abnormalities
  • Hypertension
  • Renal disease
  • Metabolic complications

Key Points / Clinical Pearls

  • Turner Syndrome is a chromosomal disorder affecting females.
  • It results from complete or partial loss of one X chromosome.
  • The classic karyotype is 45,X.
  • Short stature and ovarian insufficiency are the major clinical features.
  • Common findings include webbed neck, broad chest, low hairline, and widely spaced nipples.
  • Ovarian failure causes low estrogen with high FSH and LH.
  • Patients commonly have delayed puberty, primary amenorrhea, and infertility.
  • Karyotyping confirms the diagnosis.
  • Turner Syndrome can be mosaic, resulting in milder or variable features.
  • Growth hormone can improve final adult height when started appropriately in childhood.
  • Estrogen replacement is used to induce and maintain puberty.
  • Gravholt CH, Andersen NH, Conway GS, et al. Clinical Practice Guidelines for the Care of Girls and Women With Turner Syndrome: Proceedings From the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017;177(3):G1-G70. European Journal of Endocrinology .
  • Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH. Turner Syndrome: Mechanisms and Management. Nat Rev Endocrinol. 2022;18:510-526. Nature Reviews Endocrinology .
  • Gravholt CH, Andersen NH, Christin-Maitre S, et al. Clinical Practice Guidelines for the Care of Girls and Women With Turner Syndrome: 2023 Aarhus International Turner Syndrome Meeting. Eur J Endocrinol. 2024;190(6):G53-G89. European Journal of Endocrinology .
  • National Institute of Child Health and Human Development (NIH). Turner Syndrome . National Institutes of Health.
  • National Library of Medicine (NIH). Turner Syndrome . GeneReviews.