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G439 Mode of clinical presentation and delayed diagnosis of turner syndrome
  1. LJ Apperley1,
  2. U Das2,
  3. R Ramakrishnan2,
  4. P Dharmaraj2,
  5. J Blair2,
  6. M Didi2,
  7. S Senniappan2
  1. 1Paediatrics, Mid Cheshire Hopsital NHS Foundation Trust, Leighton, UK
  2. 2Paediatrics, Alder Hey Children’s Hospital, Liverpool, UK

Abstract

Background Early diagnosis of girls with Turner syndrome (TS) is essential to provide timely intervention and support. The screening guidelines for TS suggest karyotype evaluation in patients presenting with short stature, webbed neck, lymphoedema, coarctation of aorta or > two dysmorphic features (nail dysplasia, high arched palate, short fourth metacarpal or strabismus).

Objectives The aim of the study was to determine the age and clinical features at the time of presentation to identify potential delays in diagnosis of TS.

Methods Retrospective data on age at diagnosis, reason for karyotype analysis and presenting clinical features was collected from the medical records of 67 girls with TS.

Results The mean age of diagnosis was 5.89 (±5.3) years and ranged from prenatal to 17.9 years. 10% were diagnosed antenatally, 16% in infancy, 54% in childhood (1–12 years) and 20% in adolescence (12–18 years). Only 42% of girls were diagnosed before 5 years of age. Lymphoedema (27.3%) and dysmorphic features (27.3%) were the main signs that triggered screening in infancy. Short stature was the commonest presenting feature in both childhood (52.8%) and adolescent (38.5%) years. 23% were screened because of delayed puberty and 15% due to irregular periods in the adolescence. At least 12% of girls fulfilled the criteria for earlier screening but were diagnosed only at a later age (mean age= 8.78 years). The actual duration of delay in children presenting with short stature could not be ascertained due to lack of height measurements prior to seeking specialist opinion. The karyotype for each patient was also analysed. 13.4% of patients had classical 45XO karyotype and 52.3% of girls had a variant karyotype (mosaic pattern etc). The mean age of diagnosis for both groups was 5.3 years.

Conclusion Majority of girls with TS were diagnosed only after the age of 5 years. Short stature triggered evaluation for most patients diagnosed in childhood and adolescence. Lack of community height-screening programme and lack of awareness could have led to potential delays in diagnosing TS. New strategies for earlier detection of TS are needed.

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