Turner’s syndrome is a genetic variation that’s exclusive to females and is due to a complete or partial lack of one of the two sex chromosomes, so instead of carrying the usual two X female sex chromosomes and being ‘XX’ the woman is ‘XO’. There are some instances where part of the second X chromosome is present, but this still creates some level of abnormality, and because of the possible variation involved, a wide range of symptoms are associated with Turner’s syndrome and the symptoms vary considerably from one person to the next. Turner’s syndrome is a condition that affects about 1/2000 to 1/5000 females,iand as far as fertility is concerned the consequences of Turner’s syndrome are:
- Primary amenorrhea (absence of menstrual bleeding)
- Premature ovarian failure
The definitive test is a chromosome (karyotype) test that shows the absence or reduction in one of the X chromosomes
Modern advances in fertility medicine have enabled some women with Turner’s syndrome women to get pregnant with the assistance of egg donation because the ovaries of Turner’s syndrome women are unable to provide mature eggs it means donated eggs in conjunction with other in-vitro fertilisation (IVF) techniques is the only option. This also means estrogen replacement therapy is needed to develop the uterus for it to become sufficiently large and develop a blood supply that’s able to support conception and pregnancy.
More information can be found on the Turner Syndrome Society’s website: www.tss.org.uk
i “Optimising management in Turner syndrome: from infancy to adult transfer“. Donaldson, M D C; E J Gault, K W Tan, D B Dunger (2 2006). Arch. Dis. Child 91 (6): 513–520. doi:10.1136/adc.2003.035907. PMC 2082783. PMID 16714725.