Delayed diagnoses of Turner's syndrome: Proposed guidelines for change

Objective: To measure the delays in diagnosis of Turner's syndrome (TS) and to propose strategies for earlier screening and diagnosis. Methods: The medical records of 81 girls with TS were reviewed for age at d iagnosis, reason(s) for karyotype analysis, and clinical features including growth failure. Delay in diagnosis was calculated as equal to age at diagn osis for children born with lymphedema and/or 2 or more of the following dy smorphic features: webbed neck, nail dysplasia, high palate, and short four th metacarpal. For all others, delay in diagnosis was calculated as the dif ference between the age at which height fell below the 5th per centile and the age at which the diagnosis of TS was made. Results: Lymphedema was the key to diagnosis in 97% of the girls diagnosed with TS in infancy, and short stature was die key to diagnosis for 82% of t he girls diagnosed in childhood or adolescence. For girls diagnosed in chil dhood or adolescence, the delay in diagnosis averaged 7.7 +/- 5.4 years. Ma ny hall dysmorphic features and/or a history of lymphedema at birth, and di agnosis was made an average of 5.3 years after patients had fallen below th e 5th percentile for height. By the time of diagnosis, patients were very s hort, aver aging -2.9 SD in height. Conclusions: The diagnosis of TS is often delay ed. We recommend karyotype analysis for all girls with unexplained short stature, delayed puberty, web bed neck, lymphedema, or coarctation of the aorta. Furthermore , karotype a nalysis st-could be strongly considered for those who remain above the 5th percentile for height but have 2 or more features of TS, including high pal ate, nail dysplasia, short fourth metacarpal, and strabismus.