[The importance of comprehensive transition of care in women with Turner's syndrome]

Abstract

Turner's syndrome is the most common chromosomal abnormality in females; it affects 1:2000 live female births. It is the result of the complete or partial absence of one X chromosome. The most frequently occurring clinical features are short stature and ovarian failure. Adults with Turner's syndrome have a reduced life expectancy, mainly due to an increased cardiovascular risk. Other morbidities include hypothyroidism, skeletal problems, renal and gastrointestinal disease, and hearing loss. While most females with Turner's syndrome present during childhood and adolescence, one quarter are diagnosed with primary or secondary amenorrhoea in adulthood. Girls with Turner's syndrome usually receive intensive medical care during childhood. Early diagnosis is important for the prevention and treatment of morbidities, as well as attaining optimum adult height and age-appropriate puberty induction. This requires a multidisciplinary approach for which a protocol has been formulated by the Dutch Advisory Group on Growth Hormone. This protocol also provides the rationale for a structured transition of these patients. The emphasis throughout the transition to adult care is on educating the adolescent with Turner's syndrome, her family and adult care providers. Several follow-up studies indicate that the necessary continuum of care is not optimal.