Women with Turner syndrome require complex care.

Introduction

Turner syndrome (TS) is the most common chromosomal abnormality in females, affect­ing approximately 1/2000–1/3000 live female births.TS is associated with a three­fold increase in overall mortality with 41% of the excess mortality due to cardiovascular disease.

TS is the result of complete or partial X chromosomal mono­somy (either absent or structur­ally abnormal) in a phenotypic female. Although usually diag­nosed prenatally, at birth or in childhood, up to 38% of women are diagnosed in adulthood.

Approximately 50% of indi­viduals have a 45X0 karyo­type which is usually associated with a more severe phenotype. A mosaic karyotype, where individuals have cells with the normal complement of 46 chro­mosomes as well as cells con­taining an absent or abnormal X chromosome (45X, 46XX or 45X, 46XY), is present in 20–30% of cases and is associated with a less severe manifestation.

The characteristic clinical features are short stature, ovarian failure and character­istic physical features, although multiple organ systems may be involved (Table 1).

Table 1: Clinical Features of Turner syndrome

*Compared to general population

Diagnosis

The diagnosis of TS is made on the basis of karyotypic analy­sis associated with the char­acteristic phenotypic features and should be considered in all females presenting with growth failure/short stature, pubertal delay, and primary/secondary amenorrhoea due to ovarian failure. The presence of Y chromo­some genetic material confers an increased risk of gonado­blastoma.

Intensive medical follow­up occurs in childhood, including growth hormone therapy, induc­tion of puberty, complication screening, and identification and management of learning and social difficulties.

However, follow­up of TS adolescents/women is frequently inadequate. Reports indicate only 20/538 young TS women received comprehensive com­plication screening and 13% of TS women do not have regular medical care.

Management

There is limited evidence­based data to guide management and most recommendations are based on expert opinion.

Management of TS adults, ideally in a multidisciplinary setting, includes lifestyle advice, hormone replacement therapy (HRT), complication screen­ing, psychosocial support and education. Lifestyle advice is directed at general wellbeing and disease prevention, and includes:

• low-salt, low-fat diet
• regular exercise (avoid strenuous exercise where aortic dilatation exists)
• no smoking, adequate cal­cium intake and vitamin D
• maintenance of normal weight.

HRT is aimed at feminisation with normalisation of secondary sex characteristics and uterine size, preventing the complica­tions of oestrogen deficiency including osteoporosis, and improving cognitive deficits.

Oestrogen therapy (prefera­bly administered transdermally), used with a progestogen in the presence of an intact uterus, should be continued in the adult TS woman until the usual age of menopause (approximately 50 years). The usual contraindications to HRT apply.

Use of HRT after age 50 years is based on the same con­siderations as for any postmeno­pausal woman.

Most women with TS are infertile with only sporadic cases of spontaneous pregnancy reported.

Donor egg­-assisted reproduc­tion technology is required.

Pregnancy in TS women is associated with an increased risk of maternal complications, especially an increased risk of aortic dilatation and dissection.

Evaluation prior to concep­tion/pregnancy is essential and cardiac disease (aorta or aortic valve abnormalities) is consid­ered a contraindication.

Complication screening involves regular physical exam­ination, laboratory investiga­tion, imaging and audiology and treatment as required.

Strict control of blood pres­sure is essential to minimise the risk of aortic dilatation and dissection.

Psychosocial support includes providing information and edu­cation identification of learn­ing difficulties or decreased social function and implemen­tation of strategies designed to optimise an individual’s social, educational and employment activities.

Partnership between the TS woman, her general practitioner and specialists is essential to manage the complex needs of individuals with TS.

Table 2: Complication screening for women with Turner syndrome

Based on References 1 and 2.

  Medical Observer - Care in Turner syndrome  110.77 Kb

References

 1. Elsheikh M, Dunger DB, Conway GS, and Wass JAH, (2002) Turner’s syndrome in adulthood. Endocrine Reviews. 23:120-140 

2. Bondy, CA  for The Turner Syndrome Consensus Study Group (2007) Care of girls and women with Turner Syndrome: A guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 92: 10-25.

 Content updated May 20, 2011