What is Turner Syndrome?

Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome.

Authors:

Stochholm K,Juul S,Juel K,Naeraa RW,Gravholt CH.

Medical Department M (Endocrinology and Diabetes), Aarhus Sygehus, Norrebrogade, Aarhus University Hospital, DK-8000 Aarhus C, Denmark.

Aim:

Our aim was to study prevalence, incidence, age at diagnosis, and mortality in Turner syndrome (TS) in Denmark.

Methods:

Using the Danish Cytogenetic Register, we identified all cases (n = 781) of TS alive in Denmark during 1970-2001. Sixty-nine deceased women with TS were identified in the Causes of Death Register. We divided the cohort into women having the karyotype 45,X, karyotypes including an isochromosome Xq, and all other karyotypes associated with TS. We describe the number of patients diagnosed in Denmark yearly, incidence rates, and the age at diagnosis. Standardized mortality ratios (SMR) were calculated.

Results:

A total of 349 women had a 45,X karyotype, 86 had a karyotype including an isochromosome XQ(isoXq), and 346 had another TS karyotype. Mortality was increased in TS with an SMR of 2.86 (95% confidence interval, 2.18-3.55). SMR was increased for coronary diseases, congenital malformations, endocrine diseases, and other causes. The mortality was increased for all types of karyotypes in comparison with the general population but was highest among females with 45,X and isoXq. There was a steady increase in prevalence, but incidence was unchanged. Age at diagnosis was mainly distributed in three periods: less than 1 yr of age (14.9%), during adolescence (10-17 yr) (33.2%), and during adulthood (38.5%), with a median age at diagnosis of 15.1 yr, decreasing during the study period (P<0.01).

Conclusions:

Patients with TS and especially the karyotypes 45,X and isoXQhave a higher mortality compared with the background population. TS was diagnosed with a considerable diagnostic delay. Prevalence is increasing, but incidence of TS was stable.

Please click on the required question.

• 1 What is amenorrhoea?
• 2  What is oligomenorrhoea?
• 3  What are true and false amenorrhoea?
• 4  What is the difference between primary and secondary amenorrhoea?
• 5  Our daughter has not started her periods yet. When should we seek medical advice?
• 6  My periods have stopped. When should I seek medical advise?
• 7  My periods have stopped. How can the cause be determined?
• 8  Can generalised ill health result cause periods to stop?
• 9  I am a keen sportswoman. Could this stop my periods?
• 10 What is hyperprolactinaemia?
• 11 Which investigations are particularly helpful in finding the cause for the cessation of my periods?
• 12 What is karyotyping?
• 13 What is Turner Syndrome?
• 14 What is the testicular feminisation syndrome?
• 15 What is the resistant ovary syndrome?
• 16 What are autoantibodies?
• 17 What is premature ovarian failure (premature menopause)
• 18 What uterine abnormalities may cause amenorrhoea?
• 19 What is Asherman's syndrome?
• 20  What are the late effects of prolonged amenorrhoea?
• 21  How can my amenorrhoea be treated?
• 22  What are the risks and benefits of hormone replacement when used for premature menopause?
• 23 My periods are coming infrequently (oligomenorrhoea). What is likely to be the causes?
• 24  How are infrequent periods investigated?
• 25  How can oligomenorrhoea be treated?
• 26  If my periods are absent or infrequent, do I need contraception?
• 27  Where can I obtain more information?
• 28  Support Groups.
  • Anorexia Nervosa
  
  
  
  
  

  Thank you for choosing to visit us.

  
  

  This is the personal website of David A Viniker MD FRCOG, Consultant Obstetrician and Gynaecologist at Whipps Cross University Hospital, London - 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.