Turner syndrome through the lens of a gynaecologist.

Abstract

Turner syndrome is a rare condition affecting 1 in 2500 female births and yet is the most common sex chromosome abnormality in women. Described as a cradle-to-grave condition, it requires life-long multidisciplinary management. Accelerated atresia of the primordial follicular pool leads to premature ovarian insufficiency, which is an almost inevitable feature of Turner syndrome, especially in 45XO karyotype. Many patients will have had their diagnosis made in childhood and require paediatric endocrinology management especially for induction of puberty. At the age of 18, patients may then be transitioned to an adult service. Continuation of multidisciplinary care for these women requires input from specialist services in menopause care, reproductive medicine and high-risk pregnancy, cardiology, endocrinology, bone health and psychosocial care. A gynaecologist may take on the mantle of lead clinician especially during the perceived reproductive years of a Turner syndrome patient's life, hinging together management input from other disciplines. This review attempts to summarise an overview of the involvement of such a multidisciplinary team in the management of a single but complex condition, through the lens of a gynaecologist.