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Background Diagnosing Turner Syndrome at an early age (before 5 years) is important in achieving an optimal final adult. Significant delay in diagnosis has been reported worldwide. This study describes the presentation and clinical spectrum to create awareness for early referral. Methods Retrospective data on the initial presentation, clinical spectrum, and chromosomal abnormalities of 45 patients diagnosed with Turner syndrome was extracted from the departmental database. Results The mean age of diagnosis is 8.0 years. The majority (46.5%) were diagnosed between 5 to 12 years of age and 29% in adolescence. 24.5 % were diagnosed before the age of 5 years : 4.5% were diagnosed antenatally and 11% in the neonatal period. 80% of girls first presented to the Endocrine service after 5 years. Majority presented with short stature (67%), the rest with dysmorphic features (13%), neonatal lymphedema (4.5 %), typical cardiac lesions (4.5 %), and autoimmune hypothyroidism (4.5%). The majority were referred by pediatricians (51%) and cardiologists (17%). The commonest karyotype (55.5%) was 45, XO. 48% had cardiac lesions including bicuspid aortic valves (18%) and Coarctation of the aorta (9%). Renal anomalies were detected in 18% and ovarian abnormalities in 73%. Other manifestations included recurrent Otitis media in 18%, hearing impairment in 23%, Ophthalmological defects in 27%, autoimmune hypothyroidism in 11%, and below-average school performances in 7%. Conclusions The majority were diagnosed and referred to Endocrinology after 5 years of age. Delays in the evaluation of short stature and lack of awareness of TS clinical spectrum may have contributed.

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