Endocrine Abstracts

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.

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.