Turner Syndrome
Definition
Turner syndrome is a genetic disorder in females caused by partial or complete absence of one X chromosome, most commonly 45,XO
It results in gonadal dysgenesis and oestrogen deficiency, affecting multiple systems
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Pathophysiology
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Presentation
Short stature, with an average adult height around 143 cm
Delayed puberty and primary amenorrhoea due to gonadal failure
Characteristic physical features include a webbed neck, low hairline, and extra skin on the neck
Broad chest with widely spaced nipples is typical
Congenital cardiac anomalies such as coarctation of the aorta and bicuspid aortic valve
Additional features may include puffy hands and feet, and subtle skeletal abnormalities
Learning difficulties, particularly with spatial awareness and mathematics, may be present
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Diagnosis
Confirm diagnosis with karyotype analysis, showing 45,XO or mosaicism
Elevated FSH and LH levels indicating gonadal failure
Low oestradiol levels consistent with oestrogen deficiency
Cardiac screening and endocrine evaluations are recommended as part of the workup
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Management
Initiate growth hormone therapy in childhood to optimise final adult height
Begin oestrogen replacement therapy to induce puberty and maintain bone health, continuing until the age of natural menopause
Regular cardiovascular monitoring, including echocardiography and blood pressure assessment, to detect congenital heart disease and hypertension
Provide psychosocial support and counselling to address learning, social and emotional challenges
Offer multidisciplinary follow-up involving endocrinologists, cardiologists and genetic counsellors
Contraceptive counselling is essential, as HRT is not contraceptive
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Notes
Turner syndrome may be diagnosed prenatally via amniocentesis or CVS, or later in childhood/adolescence based on growth failure and pubertal delay
Fertility is significantly impaired; spontaneous ovarian function is rare, and assisted reproductive techniques may be required
Early intervention with growth hormone and timely initiation of HRT are key to improving long-term outcomes
Ongoing monitoring for cardiovascular, metabolic and skeletal complications is essential throughout life
A multidisciplinary approach ensures comprehensive management and supports overall quality of life
