Pubertal Development

The reported incidence of spontaneous puberty/ menarche is 10-20 % (thus the majority of girls with Turner’s syndrome  do not enter puberty spontaneously). Induction of puberty with oestrogen therapy is frequently required and usually commenced under the supervision of a paediatrician/ paediatric endocrinologist. Gradually increasing doses of oestrogen (oral or transdermal) are used with the aim of completing feminization over a 2-3 year period. Doses are adjusted according to clinical response (Tanner stage, bone age and uterine growth). A progestin is added after the first vaginal bleed occurs or after 12 –24 months of oestrogen (E) therapy. There is controversy regarding at what age E therapy should be instituted to optimise height and uterine development as well as psychosexual development.

Postpubertal Hormone Therapy

The majority of women with Turner’s syndrome  require long term hormone therapy (HT). Although there is a lack of long term follow-up data. HT is prescribed for  adult women with Turner’s syndrome  to prevent oestrogen deficiency symptoms and long term complications. HT  should be prescribed until 50 years of age; continuation after this date would depend on the individual woman’s risk/ benefit analysis. However, a significant proportion of Turner’s syndrome  women do not maintain HT  following pubertal induction. Counselling and education is necessary to increase compliance with HT. Women with Turner’s syndrome  do not appear to have a greater risk of breast cancer compared with the general population. Androgen concentrations may be reduced in women with Turner’s syndrome  but no studies have been conducted to address the role of androgen therapy in Turner’s syndrome  women.

The optimal preparation of HT for adult women with Turner’s syndrome  remains a matter of debate (eg oral contraceptive pill vs menopausal hormone therapy regimens; oral vs transdermal or transnasal; cyclical vs continuous). An oestrogen dose adequate for symptom relief and prevention of  complications is necessary (a dose equivalent to 2mg/ day oestradiol is usually sufficient but may vary from 1-4 mg).HT prescribing would follow those guidelines established for women with premature menopause.

Infertility

The majority of women with Turner’ss syndrome are infertile and pregnancy can only be achieved at present through IVF technology with donor oocyte/ embryo. Pregnancy requires the involvement of a specialist team to ensure adequate uterine preparation. Obstetric complications include an increased risk of  miscarriage, maternal cardiovascular complications (especially aortic root dissection) and cephalopelvic disproportion requiring Caesarean section. The risk of pre-eclampsia does not appear to be increased.

Spontaneous pregnancies (less than 5% women) are associated with a high risk of foetal loss and chromosomal and congenital abnormalities. Women with Turner’s syndrome  should be made aware of the increased risk of  premature menopause and thus avoid delaying pregnancy.

Counselling regarding fertility and pregnancy is essential for all women.

Content created June 04, 2007