Observational studyFrontiers in endocrinology2026
Karyotype-phenotype associations in turner syndrome: a multicenter retrospective cohort study.
Observational study in Frontiers in endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Establishing clear links between different Turner syndrome (TS) karyotypes and phenotypes would help inform discussions around likely disease trajectories. Here we explored associations between karyotype, clinical features, and growth hormone (GH) responses in individuals with TS. Methods: This was a retrospective observational study of 86 patients diagnosed with TS attending three endocrine centers in Abu Dhabi, UAE. Clinical and genetic data were retrieved from the medical records. Changes in height standard deviation score (SDS) over time were assessed with repeated measured ANOVA with Tukey's Results: The median (IQR) age of participants at diagnosis was 9.3 (6.5, 13.4) years. 44.2% were classical monosomies, 18.6% were mosaic, and 37.2% were structural X-chromosome abnormalities (isochromosome Xq, deletions, ring chromosome). GH treatment was started at a mean (SD) of 8.7 (4.0) years, which resulted in a significant increase in mean (SD) height SDS, with a greater increase in the first year [0.59 (0.13)] than between years 1 and 3 [0.22 (0.13)]. Spontaneous menarche occurred in 1/23 (4.3%) of evaluable 45, X individuals, compared with 6/12 (50.0%) of mosaic and 10/22 (45.5%) of structural X-chromosome abnormality cases (p=0.002), and autoimmune hypothyroidism was significantly more common in individuals with structural X-chromosome abnormalities (15/32, 46.9%, vs 5/37, 13.5%, and 1/16, 6.2%, in monosomy and mosaic cases, respectively; p<0.001; adjusted OR 5.22 [95% CI 1.55-17.53] after adjustment for current age). No detectable association was observed between karyotype and one-year GH response in the available analyses. Conclusions: TS remains challenging to recognize and manage, and early detection and management are crucial to optimize growth, pubertal development, and quality of life. Knowledge of karyotype-phenotype associations helps to manage patient and family expectations and plan likely future management.
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.