Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study

Abstract

BackgroundEarly 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. 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.MethodsRetrospective data on age at diagnosis, reason for karyotype analysis and presenting clinical features was collected from the medical records of 67 girls with TS.ResultsThe mean age of diagnosis was 5.89 (±5.3) years ranging from pre-natal to 17.9 years (median 4.6 years). 10% were diagnosed antenatally, 16% in infancy, 54% in childhood (1–12 years) and 20% in adolescence (12–18 years). 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. At least 12% of girls fulfilled the criteria for earlier screening but were diagnosed only at a later age (mean age = 8.78 years). 13.4% of patients had classical 45XO karyotype and 52.3% of girls had a variant karyotype.ConclusionMajority 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 dedicated community height-screening programme to identify children with short stature and lack of awareness could have led to potential delays in diagnosing TS. New strategies for earlier detection of TS are needed.

Associated clinical abnormalities among patients with Turner syndrome

“…The age at diagnosis for the patients in this study was similar to that found in the literature and was consistent with a recent study that has suggested a decline in the age at diagnosis over the last few years [6]. The presentation of TS varies throughout a patient' s life [7]. The most common complaints at the first presentation for TS are short stature and delay in puberty.…”

Safety and Effectiveness of Recombinant Human Growth Hormone in Children with Turner Syndrome: Data from the PATRO Children Study

“…In PATRO Children, the mean patient age at rhGH treatment initiation was 8.5 years (in treatment-naïve patients, who had mean baseline HSDS of −3.0). The diagnosis of TS is often delayed [27, 28], which could explain the late treatment initiation observed in PATRO Children. In one study of 81 TS patients, the mean (SD) delay in diagnosis was 7.7 (5.4) years in girls diagnosed in childhood or adolescence [28].…”

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

“…The diagnosis of Turner syndrome should be strongly considered for any woman with unexplained growth failure or delayed puberty; lymphedema (edema of the hands or feet, nuchal fold, neck webbing, low hairline and hyperconvex or hypoplastic nails); characteristic facial features such as epicanthal folds, down‐slanting palpebral fissures, low‐set ears, and micrognathia; left‐sided cardiac anomalies, such as coarctation of the aorta, bicuspid aortic valve (BAV), and aortic stenosis; markedly elevated follicle‐stimulating hormone (FSH); infertility; cubitus valgus; multiple pigmented nevi; bone anomalies including short fourth metacarpal or metatarsal, Madelung deformity, and scoliosis; chronic otitis media and conductive or sensorineural hearing loss; or learning disabilities affecting visuospatial or nonverbal skills (Eckhauser, South, Meyers, Bleyl, & Botto, ; Gravholt, Andersen, et al, , section 1.3). Because Turner syndrome is still frequently diagnosed in adolescence or adulthood, clinicians should be aware that the most prominent signs and symptoms of Turner syndrome might change with age and maintain vigilance for prompt evaluation of women who meet these criteria (Apperley et al, ; Lee & Conway, ; Sävendahl & Davenport, ). Since many women may be detected as part of a fertility evaluation and discovered to have mosaicism, often at a low level, there are some adults with minimal external features.…”