In this study, we aimed to evaluate the mode of clinical presentation and identify the potential delay in the diagnosis of TS. Thus, with their results they developed proposed guidelines for the diagnosing TS. Short stature was the trigger for the majority of the screening. Overall the estimated delay in diagnosis for the patients diagnosed in the childhood or adolescent groups was 7.7 (5.4) years. The study, based in North Carolina, included 81 patients with karyotype-proven TS and showed mean (SD) age at diagnosis to be 4.2(5.6) years. Sävendahl and Davenport completed a study in 2000 which aimed to measure the delay in diagnosis of TS and to recommend a screening tool to aid earlier diagnosis. The diagnosis of TS and thus intervention can be often delayed in children. One fifth of cases were diagnosed during childhood following investigation of short stature, and 50% of patients were not diagnosed until adolescence because of primary amenorrhoea. described that one fifth of cases were diagnosed within the neonatal period in view of the typical clinical features. These features tend to influence the age at which the diagnosis of TS is made. Other features include webbed neck, broad chest with widely spaced nipples, cubitus valgus, low posterior hairline and multi-pigmented naevi. duplicated or cleft renal pelvis horseshoe kidney). coarctation of the aorta and bicuspid aortic valve) and renal disorders (e.g. The most common presentation for TS is short stature, but the phenotypical features vary and include ovarian, cardiovascular (e.g. An example of this is 46,X,i(Xq)/45,X, indicating that the second cell line shows an isochromosome of the second X chromosome with duplication of the long arm (q) and loss of the short arm (p). The other aetiology is due to abnormal meiotic recombination resulting in deletion or rearrangement of the short arm of the second sex chromosome. The first is mosaic form, a cell line of 45, X with 46, XX and/or 47, XXX, which is a consequence of disruption in the early stages of mitosis. There are two aetiologies for partial X monosomy. It is believed that 99% of foetuses with the classical 45, X karyotype spontaneously abort, making up 10% of all miscarriages within the first trimester. The most common aetiology is complete X monosomy (45, X). It is secondary to complete or partial X chromosome monosomy. It is a relatively common chromosomal disorder affecting approximately 1 in 2500 live female births. Henry Turner, an American Endocrinologist, first described Turner Syndrome (TS) in 1938. New strategies for earlier detection of TS are needed.ĭr. Lack of dedicated community height-screening programme to identify children with short stature and lack of awareness could have led to potential delays in diagnosing TS. Short stature triggered evaluation for most patients diagnosed in childhood and adolescence. Majority of girls with TS were diagnosed only after the age of 5 years. 13.4% of patients had classical 45XO karyotype and 52.3% of girls had a variant karyotype. At least 12% of girls fulfilled the criteria for earlier screening but were diagnosed only at a later age (mean age = 8.78 years). Short stature was the commonest presenting feature in both childhood (52.8%) and adolescent (38.5%) years. Lymphoedema (27.3%) and dysmorphic features (27.3%) were the main signs that triggered screening in infancy. 10% were diagnosed antenatally, 16% in infancy, 54% in childhood (1–12 years) and 20% in adolescence (12–18 years). The mean age of diagnosis was 5.89 (±5.3) years ranging from pre-natal to 17.9 years (median 4.6 years). 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. The aim of the study was to determine the age and clinical features at the time of presentation and to identify potential delays in diagnosis of TS. The screening guidelines for TS suggest karyotype evaluation in patients presenting with short stature, webbed neck, lymphoedema, coarctation of aorta or ≥ two dysmorphic features. Early diagnosis of girls with Turner syndrome (TS) is essential to provide timely intervention and support.
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