Karyotype–phenotype associations in turner syndrome: a multicenter retrospective cohort study

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The study analyzed 86 Turner syndrome patients to explore associations between karyotype, clinical features, and growth hormone responses.
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Participants had a median age of 9.3 years at diagnosis, with 44.2% having classical monosomies and 37.2% having structural X-chromosome abnormalities.
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Growth hormone treatment started at a mean age of 8.7 years, significantly increasing height standard deviation scores in the first year.
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Spontaneous menarche occurred in 4.3% of 45, X individuals, compared to 50% of mosaic and 45.5% of structural X-chromosome abnormality cases.
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Autoimmune hypothyroidism was more common in individuals with structural X-chromosome abnormalities, highlighting karyotype-phenotype associations.

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