Turner syndrome (TS) is a cross-cultural genetic disorder that affects around 1 in 2500 women and is predominately associated with short stature and infertility. Classic TS occurs when one sex chromosome is missing (written as 45,X). In mosaic TS, there is a mix of cells, some with 45 chromosomes—missing one X chromosome, and some with all 46 chromosomes—missing part of the X chromosome. TS is characterised by short stature and non-functioning ovaries, which leads to impaired pubertal development and infertility. The majority of women with TS present with no behavioural or physical attributes that would distinguish them as different to the general population, and can be expected to live long and healthy lives. A midwife may have to care for a woman whose fetus has been diagnosed with TS, recognise and manage a newborn with TS, or manage a woman with TS who is pregnant with a donor ovum. To equip midwives with relevant knowledge, the objectives of this paper are to explain what TS is, how it may be recognised, and discuss medical and midwifery management of events.
Hollins Martin, C. J., & Smythe, A. (2012). A midwives guide to Turner Syndrome. British Journal of Midwifery, 20, 540-543