Turner syndrome (TS), defined as loss or abnormality of the second X chromosome in a phenotypic female, affects 1 in every 2500 live female births. Around 155 females will be born with TS in the UK each year, with ~2800 girls ≤18 years and ~6500 women aged 1860 years living with the condition. Short stature is a constant feature with gonadal dysgenesis present in ~90%, Associated features include dysmorphic features which are often mild, lymphoedema, otitis media with effusion, sometimes followed by suppurative otitis media±cholesteatoma; bicuspid aortic valve, coarctation and dilatation of aortic root; hypertension; and an autoimmune diathesis. IQ is usually normal but there may be specific learning difficulties (commonly with mathematics) and a degree of social vulnerability.
Optimal management of TS begins with timely diagnosis followed by thorough counselling and education of the family. Growth hormone (GH), of proven value in improving final height, is usually started aged 5 years (earlier if the girl is especially short) in the dose of 10 mg/m2 per week given as daily s.c. injections. In the UK pubertal induction is currently with a 3-year low dose ethinyl oestradiol protocol, usually started at 1213 years. Four-monthly outpatient review is required to monitor growth and development and for the surveillance of blood pressure, middle ear disease (present in over 60%), educational difficulties (often compounded by conductive hearing loss), and any psychosocial or family problems (which affect compliance with GH). Bone age, thyroid function and IGF1 are checked annually; gonadotrophins, pelvic/renal and cardiac ultrasound at diagnosis, 1112 years (prior to pubertal induction) and at adult transfer.
At 1618 years joint review by the paediatric endocrine team with an adult colleague gynaecologist, endocrine or reproductive physician ensures smooth transition. Adult care involves lifelong surveillance of cardiovascular, reproductive, otological, endocrine and metabolic bone health.