Overview 

Turner syndrome is a congenital (present at birth) disorder affecting 1 in every 2000 girls that is caused by a complete, or partial deletion of one of the female sex chromosomes.^1,2,3,4,5,6 Normal human DNA consists of 23 chromosomes, and each chromosome is made of a pair of two sister chromatids, one inherited from each parent.⁷ In Turner syndrome, the affected chromosome is the second chromosome of pair 23, also known as the sex chromosome. Healthy human assigned at birth females (AFAB) typically have two complete X chromosomes.⁷ Random DNA deletion events cause partial or complete chromosome deletions, with the latter kind being the most common.^1,2,3 The reason behind the DNA deletion is unknown. In early childhood, the outward presentation of an individual with Turner syndrome includes a set of characteristics indicative of stunted and abnormal stature growth, most notably, short height and a short, webbed neck.^1,2 Due to its impact on the sex chromosome, Turner syndrome can affect reproductive outcomes.^1,2,3,4,5,6 This article aims to provide information on the reproductive options for individuals with Turner syndrome, as well as highlight its common clinical presentations, diagnosis, and management options.  

Figures 1A and 1B. An illustration of the differences between the human female DNA with Turner syndrome (A) compared with a normal female DNA presentation (B). Turner syndrome is represented in image A with a complete deletion of the second sex chromosome (Classic Turner syndrome). Pink and blue annotations denote maternal and paternal inheritance, respectively. 

Images were created by the author using Biorender.  

Diagnosis and management 

Turner syndrome can be diagnosed before birth during routine pregnancy screening tests.¹ Due to the complexity of the condition, management might require multidiscipline teams, to best address variability of the condition.^1,6 The condition can also be diagnosed in early child development. By age 5, a short stature is typically noted.¹  

Doctors may perform tests in suspected Turner cases both ante-, post-natally including: 

• Amniocentesis 
• Karyotyping 
• Cytogenetic testing 
• Chorionic villus sampling 
• Ultrasound   

How does turner syndrome affect reproduction?  

Turner syndrome can negatively affect reproduction by causing abnormalities in the reproductive organ structure and development.^1,2,4,5,6 This is because the partial or complete absence of the sex chromosome can cause an insufficiency of the genes needed for their normal development.¹ The impaired health outcomes and shortened lifespan of an individual with Turner syndrome may also affect their ability for sexual reproduction. Those with Turner syndrome may be completely without or have abnormally developed ovaries the organs which store human eggs needed for fertilisation.^1,2,4,5,6 Despite this, their uterus (wombs) and vaginas may develop normally. As the menstrual cycle occurs in response to ovulation, the monthly release of an egg from the ovaries, those with Turner syndrome who have abnormal ovaries might not menstruate.^1,2,4,5,6 Symptoms of reproductive abnormalities and infertility might be noticed at puberty and include: 

• Ovarian absence 
• Absent periods 
• Painful periods  
• Irregular periods 
• Primary ovarian insufficiency: loss of ovarian function before the age of 40  
• Premature menopause  

Reproductive options

The pre-existing challenges of having children are often exacerbated in Turner syndrome, making the process difficult to manage for those affected. Some women with Turner syndrome may be able to conceive naturally through spontaneous pregnancy, although, this is rare.⁵ For those struggling with infertility, assisted reproduction may be a viable option to mitigate delayed puberty, premature menopause, and infertility.^1,6 These procedures may, however, have considerable risks that have been outlined further in the article. Reproductive options for those with Turner syndrome may include: 

• Assistive reproductive technologies (ART) 
  • In vitro fertilisation (IVF): As premature menopause is common in Turner syndrome; IVF may be carried out before the onset of complete loss of ovarian reserve after egg retrieval, where possible. 
  • Embryo adoption. As the wombs tend to develop normally, it may be possible to adopt priorly fertilised embryos for transfer into the uterus.
• Puberty induction 
• Hormone replacement therapy including: 
  • Oestrogen  
  • Progesterone 
• Adoption 

Healthcare specialists 

To best manage the condition and tailor the care plan to one that provides the most support, healthcare professionals involved in the consultation of the reproductive options of individuals with Turner syndrome may specialise in some or all the following specialities:  

• Geneticists  
• Endocrinologists 
• Gynaecologists  
• Psychologists 
• Obstetricians 

Risks 

Multidiscipline specialist teams may consult individuals with Turner syndrome on their reproductive plans and conduct health risk assessments. As with many medical procedures, it is important to note that the outcomes may not always be successful. Additionally, hormone replacement, assisted reproduction and pregnancy in individuals with Turner syndrome may elevate the risks of developing, or worsening preexisting complications.^2,3,6 These may include:  

• High blood pressure (hypertension) 
• Cardiovascular disease 
• Caesarean (C-) section 
• Foetal chromosomal abnormalities  

FAQs

Can turner syndrome be cured?  

Unfortunately, Turner syndrome cannot be cured. 

Is turner syndrome an inherited condition? 

No, according to the NHS, the chromosomal abnormalities occur at random.  

Can the risk of having a child with turner Syndrome increase with maternal age? 

According to the NHS, although Turner is present at birth, it is not always hereditary or caused by maternal factors. 

Summary  

Turner syndrome is an incurable, female-only genetic condition that is present at birth and is caused by an abnormal or missing female sex chromosome. The reproductive potential of an individual with Turner syndrome is low due to its impact on the development and functioning of the female reproductive organs. Although the chromosomal abnormalities underpinning Turner syndrome are incurable, associated disorders affecting reproductive outcomes may be mitigated by hormone replacement, puberty induction and assisted reproduction; considerable deliberation must be given to the risks of assisted reproduction and pregnancy for individuals with Turner syndrome, due to elevated risk of complication. A multidisciplinary team of healthcare specialists may consult with Turner patients to address the variety of options and afflictions.

Further resources  

These websites might provide useful information to find out more about the reproductive options and general management of Turner syndrome: 

• European Society of Human Reproduction and Embryology 
• Turner Syndrome Support Society 
• The Turner Syndrome Foundation