Turner syndrome (TS) is the most common genetic disorder affecting only females. The criteria for diagnosis include the complete or partial absence of the second sex (x) chromosome (with or without cell line mosaicism) plus short stature and primary ovarian failure with or without the presence of other phenotypic TS features. The genotype in TS, as tested in peripheral blood, is most commonly 45xo. β-thalassemia major or transfusion-dependent thalassemia refers to severe β-thalassemia that requires early transfusion therapy. The association between Turner syndrome and thalassemia major is rare, which may result from transcription factor gene mutation.
We report a girl with thalassemia major who was treated by recurring monthly transfusions since the age of six months. Short stature, triangular face, low set ear, hypertelorism, webbed neck, lordosis and genu valgum were observed in the examination. The patient was diagnosed with Turner syndrome, and her karyotype also was defined as 45xo.
In the case of Turner syndrome and β-thalassemia major association, a mutation in the transcription factor gene is proposed, which can be confirmed by genetic testing.
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