Overview
Turner syndrome describes a set of features seen due to the presence of only one X chromosome (45, XO). Many girls with Turner syndrome do not have classic features (e.g. webbed neck) and may only have problems with short stature and amenorrhoea.
Turner syndrome should be considered a potential differential diagnosis in any girl with short stature or primary amenorrhoea.
Epidemiology
- Turner syndrome is estimated to affect up to 25 per 100,000 women
Associations
Turner syndrome is associated with:
- Recurrent urinary tract infections and otitis media
- Autoimmune/inflammatory diseases – autoimmune thyroiditis, coeliac disease, and Crohn’s disease
- Hypothyroidism
- Hypertension
- Obesity
- Osteoporosis
- Diabetes mellitus
- Absent kidney or horseshoe kidneys
Presentation
- Short stature
- Primary amenorrhoea
- Broad chest and widely spaced nipples
- Webbed neck
- Cardiac abnormalities (coarctation of the aorta, bicuspid aortic valve)
- Cystic hygroma – often identified prenatally using an ultrasound scan
- Lymphoedema of the hands and feet – more common in neonates
Investigations
Overview
Some investigation findings include:
- Serum luteinising hormone (LH) and follicle-stimulating hormone (FSH):
- Elevated due to ovarian failure – shows hypergonadotropic hypogonadism
- Chromosomal analysis:
- Diagnostic
Prenatal diagnosis is possible with Turner syndrome:
- Ultrasound scan – initial screening test
- Amniocentesis or chorionic villus sampling and karyotyping – diagnostic
Management
Overview
Specialist treatment can help with managing the symptoms of Turner syndrome such as:
- Growth hormone therapy for short stature
- Replacement sex hormones for puberty, and menstrual cycles, and reducing the risk of osteoporosis
- Fertility treatment – such as oocyte donation or embryo transplantation
Prognosis
- The mortality rate of people with Turner syndrome is around 3 times higher than that of the general population due to the increased risk of cardiovascular disease
