Introduction to Turner's Syndrome

In 1938, Henry Turner first described Turner's Syndrome (or Turner Syndrome), which is one of the most common chromosomal abnormalities. Turner's Syndrome only occurs in females. More than 95% of adult women with Turner's Syndrome exhibit short stature and infertility.

There are normally 23 pairs of chromosomes (genes - chromosomes). It occurs in one in 2000 girls in the UK. Girls have two X chromosomes and there is one X and one Y chromosome in boys. It is the missing chromosome that is the cause of Turner Syndrome. Women with Turner Syndrome have only one sex chromosome X0 rather than XX. Intellectual capacity is normal. They are born without functional ovaries and they tend to be of short stature and have web-shaped necks. The endocrine picture is usually typical of the menopause so hormone replacement therapy is indicated probably from the mid-teens. This is likely to improve bone density in the long-term and improve femininity. Pregnancy can only occur using donated eggs and in vitro fertilisation (IVF IVF - egg donation).

Sometimes, notably when only some cells have one chromosome only and others are normal, there may be periods although premature ovarian failure is likely. Spontaneous pregnancy is rare.

Prevalence of Turner Syndrome:
 

The prevalence is approximately 1 in 2000 live-born female infants. As many as 15% of spontaneous abortions have a 45 X karyotype. There are no known ethnic or racial factors influence Frequency. Advanced maternal age is not associated with an increased incidence.

Mortality and Morbidity:

  • Mortality may be increased in the neonatal period as one of the causes of coarctation of the aorta is Turner Syndrome 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.
  • Turner Syndrome may cause osteoporosis because of ovarian failure and the resulting oestrogen deficiency.
  • 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 or aortic valve disease require subacute bacterial endocarditis (SBE) prophylaxis (antibiotics) for surgical procedures.
  • Children usually present with short stature, but some girls younger than 11 years have heights within the normal range. Although the presence of other features may increase the index of suspicion, a karyotype (chromosome analysis) is indicated in any girl with unexplained short stature.
  • In older adolescents and adults, presenting symptoms usually involve issues of puberty and fertility as well as short stature. Adrenarche, the beginning of pubic hair growth, occurs at a normal age and is not an indication that puberty will progress normally. Breast development is absent when ovarian failure occurs before puberty. Some girls have spontaneous breast development or menses. Diagnosis should be considered in individuals with primary or secondary amenorrhea and in adult women with unexplained infertility, particularly when such individuals also are short in stature.

Clinical findings:

Approximately 95% of individuals with Turner's Syndrome have both short stature and signs of ovarian failure on physical examination.

  • Short stature: In adults, short stature is due to both a slightly slower growth rate in childhood and to an essentially absent adolescent growth spurt. Before age 11 years, some girls have height and growth rates that are well within the normal range, but heights are below the 50th percentile for girls without Turner's Syndrome.
  • Ovarian failure should be considered in girls who have no breast development by age 12 years or who have not started menses by age 14 years. Elevated levels of luteinizing hormone (LH) and FSH confirm ovarian failure.
  • Pubic hair development is normal.
  • Webbed neck is typical.
  • Short fourth metacarpal or metatarsal: Although this finding is of minimal clinical significance, it can be a clue to the presence of Turner's Syndrome.
  • The chest appears to be broad with widely spaced nipples. This may be caused in part by a short sternum.
  • Gastrointestinal bleeding is usually due to intestinal vascular malformations, but the incidence of Crohn's disease and ulcerative colitis is also increased.
  • Hip dislocation: Infants have a higher incidence of congenital hip dislocation.
  • Blood pressure elevations may be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings. Blood pressure should be routinely monitored and measured at each medical visit.
  • Cardiovascular malformations include coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood. All individuals should have an initial evaluation and periodic follow-up care from a cardiologist.
  • Thyroid: As many as half of patients have positive antithyroid antibodies, and 10-30% develop hypothyroidism. This is often associated with thyroid enlargement.
  • Most pregnancies with a 45 X karyotype spontaneously abort. Most, if not all, of those who survive to birth are suspected to have mosaicism for a normal cell line. Turner's Syndrome may be diagnosed prenatally by amniocentesis or chorionic villous sampling.
  • In patients with a single X chromosome, the chromosome is of maternal origin in two thirds of cases.
  • Many of the features of Turner's Syndrome, including the short stature, are due to the lack of a secondSHOX gene, which is on the X chromosome.

Investigations
 

Diagnosis

  • A karyotype is required for diagnosis. Diagnosis is confirmed by the presence of a 45 X cell line or a cell line with deletion of the short arm of the X chromosome (Xp deletion).
  • The buccal smear for Barr bodies is obsolete.

Gonadotrophins

  • Both LH and FSH may be elevated in untreated patients younger than 4 years. Gonadotropins are later suppressed to normal or near-normal levels, only to rise to menopausal levels after 10 years of age.

Thyroid function tests

  • Because of the high prevalence of hypothyroidism in Turner's Syndrome, obtain thyroid function tests at diagnosis.
  • Thyroid-stimulating hormone (TSH) measurements should be repeated every 1-2 years or if symptomatic because patients may develop hypothyroidism at a later age.

Glucose metabolism

  • Abnormalities of glucose metabolism, including overt diabetes mellitus, are more common than in unaffected children.
  • Obesity should be avoided.
  • Screening for diabetes mellitus is best performed by obtaining fasting glucose levels.

 

Cardiovascular

  • A cardiologist should monitor abnormalities.
  • Because of the risk of aortic dissection, cardiovascular examinations should be repeated every 5 years during adulthood and prior to assisted reproduction.
  • A complete cardiovascular evaluation should be completed prior to attempting assisted reproduction.

Bone age

  • Bone age usually is normal prior to adolescence but is delayed afterward because of the lack of estrogens.
  • Obtain bone age before starting growth hormone or estrogen therapy. Growth hormone is ineffective if the epiphyses are fused.

Bone density

  • Osteoporosis is common, but it may be overdiagnosed in short individuals.
  • Measure bone density initially in adults and 3 years later.

Management

  • Turner's Syndrome is a lifelong condition. Most people live long and healthy lives, yet some are susceptible to a number of chronic conditions.
  • Health supervision involves careful medical follow-up care, which includes screening for commonly associated chronic diseases. Early preventive care and treatment also are essential.
  • In childhood, growth hormone therapy is standard to prevent short stature as an adult. Growth hormone treatment may result in a more normal height if started before puberty.
  • Oestrogen replacement therapy (HRT) usually is required, but starting too early can compromise adult height. Estrogen usually is started from age 12-15 years. Patients, require the advice of paediatric endocrinologists during childhood, and cardiologists, and reproductive endocrinologists / gynaecologists from adolescence onwards.
  • Patients have a high risk of keloid formation. This must be taken into consideration if cosmetic surgery is contemplated because keloids may negate any gain from such procedures.

Diet:

  • Both short stature and ovarian failure are risk factors for osteoporosis, and care should be taken to ensure adequate daily intake of calcium (1.0-1.5 g) and vitamin D (at least 400 IU).
  • Patients should avoid obesity because it increases already high risks of hypertension and insulin resistance.
  • Physical activity should be encouraged as prevention for obesity and osteoporosis.
  • Patients with short stature require fewer calories than those of normal height.

Turner Syndrome Pictures.

More details of this remarkable woman can be found on www.nfinity.com/~exile/Turners/growingup.htm

More Pictures of Turner Syndrome Pictures are available on - Pictures

Related Medical Abstracts - Click on the paper title:-

Support Groups  

Members of a support group, provide each other with various types of help and information for a particular shared difficulty. The support may take the form of providing relevant information, relating personal experiences, listening to others' experiences, providing sympathetic understanding and establishing social networks. A support group may also provide ancillary support, such as serving as a voice for the public or engaging in advocacy. Support groups maintain interpersonal contact among their members in a variety of ways. Support groups also maintain contact through printed information rich newsletters, telephone chains, internet forums, and mailing lists.


 
Support groups offer companionship and information for people coping with diseases or disabilities. Support groups may not be appropriate for everyone, and some find that a support group actually adds to their stress rather than relieving it.



Evaluation of the quality of Web sites is discussed in(Q4.27) . You may find that several general women's health sites may help you (internet information). The following are more specialised relevant Web sites:-

http://www. Tss.org.uk/ Turner Syndrome Support Society (TSSS) 13 Simpson Court, 11 South Ave
Clydebank Business Park Clydebank G81 2NR
http://www. Turnersyndrome.ca/ Turner's Syndrome Society of Canada 323 Chapel Street Ottawa, Ontario K1N 7Z2
Canada
http://www. Turnersyndrome.org. Au/ National President and National Vice President Sean and Korina Kenny PO Box 425 Happy Valley SA 5159 Australia
http://www. Agat-Turner.org/ AGAT C/O A. A. A.F. A 2 rue Andr?Messager B. P 5 75860 Paris Cedex 18 France


Please click on the required question.

Women's Health


This is the personal website of David A Viniker MD FRCOG, retired Consultant Obstetrician and Gynaecologist - Specialist Interests - Reproductive Medicine including Infertility, PCOS, PMS, Menopause and HRT.
I do hope that you find the answers to your women's health questions in the patient information and medical advice provided.

I do hope that you find the answers to your women's health questions in the patient information and medical advice provided.

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