Turner Syndrome 

  • Author: Daniel C Postellon, MD; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Sep 22, 2011
 

Background

In 1938, Henry Turner first described Turner syndrome, which is one of the most common chromosomal abnormalities.[1] More than 95% of adult women with Turner syndrome exhibit short stature and infertility. Examples of manifestations of Turner syndrome are shown in the images below.

A patient with Turner syndrome is shown. This postA patient with Turner syndrome is shown. This posterior view shows a low hairline and a shield-shaped chest. Note the narrow hip development. Lymphedema of the feet in an infant is shown. The Lymphedema of the feet in an infant is shown. The toes have the characteristic sausagelike appearance. Hyperconvex nails in Turner syndrome. Note U-shapeHyperconvex nails in Turner syndrome. Note U-shaped cross section.
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Pathophysiology

Turner syndrome is caused by the absence of one set of genes from the short arm of one X chromosome. In patients with 45,X karyotype, about two thirds are missing the paternal X chromosome. In addition to monosomy X, a similar clinical picture is found with a 46,XXiq karyotype and in some individuals with mosaic karyotypes. A deletion of the SHOX gene can cause a similar skeletal phenotype known as Leri-Weill dyschondrosteosis.

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Epidemiology

Frequency

United States

The frequency is approximately 1 in 2000 live-born female infants.[2] As many as 15% of spontaneous abortions have a 45,X karyotype.

International

The incidence is the same as in the United States. No known ethnic or racial factors influence frequency.

Mortality/Morbidity

Mortality may be increased in the neonatal period because of hypoplastic left heart[3] and coarctation of the aorta and in adulthood because of cardiovascular disease, particularly aortic dissection.Obesity, with associated diabetes mellitus and hypertension, can also contribute to early mortality. Limited epidemiologic studies suggest that life expectancy is reduced by about 10 years. Osteoporosis is common.

Renal anomalies found in some individuals may cause a predisposition to urinary tract infections or hypertension. Even in the absence of cardiac or renal anomalies, patients are prone to develop hypertension.

Individuals with mitral valve disease or aortic valve disease require subacute bacterial endocarditis (SBE) prophylaxis.

In a Danish study, the overall risk of autoimmune disease among women with Turner syndrome was twice that among Danish women in general.[4] Risk for autoimmune diseases more often found in males was notably high. For individual diseases, associations were strongest for Hashimoto thyroiditis, a condition more common in females, and type 1 diabetes mellitus.

Race

No racial or ethnic predilections are known.

Sex

Turner syndrome only occurs in females.[5] Noonan syndrome, sometimes inappropriately called male Turner syndrome, can occur in males or females. It is an autosomal dominant genetic disorder and is not a chromosomal disorder. It is unrelated to Turner syndrome.

Age

As a chromosomal disorder, Turner syndrome is present at conception or following the first cell division and remains throughout life. Gonadotropin levels, particularly follicle-stimulating hormone (FSH) levels, may be elevated at birth, although not reliably enough for use in neonatal screening.[6] They are gradually suppressed by about age 4 years, only to rise to menopausal levels after age 10 years.[7]

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Contributor Information and Disclosures
Author

Daniel C Postellon, MD  Clinical Associate Professor, College of Human Medicine, Pediatrics and Human Development, Michigan State University; Consulting Staff, Pediatric Endocrine Clinic, Helen DeVos Children's Hospital

Daniel C Postellon, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, Endocrine Society, and Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Coauthor(s)

Maala S Daniel, MBBS  Attending Physician, Division of Pediatric Endocrinology, Helen DeVos Children's Hospital

Maala S Daniel, MBBS is a member of the following medical societies: American Academy of Pediatrics, American Medical Student Association/Foundation, and Endocrine Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Ian Krantz, MD  Department of Pediatrics, Assistant Professor, University of Pennsylvania and Children's Hospital of Philadelphia

Ian Krantz, MD is a member of the following medical societies: American Society of Human Genetics

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Robert Anthony Saul, MD  Clinical Professor, Department of Pediatrics, University of South Carolina School of Medicine; Senior Clinical Geneticist, Greenwood Genetic Center

Robert Anthony Saul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, and American College of Physician Executives

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

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A patient with Turner syndrome is shown. This posterior view shows a low hairline and a shield-shaped chest. Note the narrow hip development.
Lymphedema of the feet in an infant is shown. The toes have the characteristic sausagelike appearance.
Hyperconvex nails in Turner syndrome. Note U-shaped cross section.
Generalized lymphedema is seen here in an infant with Turner syndrome. The loose skin folds around the neck will form a webbed neck later in life.
 
 
 
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