ACTA ENDOCRINOLOGICA (BUC)

The International Journal of Romanian Society of Endocrinology / Registered in 1938

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Year Volume Issue First page
10.4183/aeb.
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  • Case Series

    Ongen YD, Parlak A, Eren E

    Heterokaryotic Monozygotic Turner Twins: an Interesting Presentation

    Acta Endo (Buc) 2024 20(2): 244-246 doi: 10.4183/aeb.2024.244

    Abstract
    Turner syndrome is the most common sex chromosomal abnormality in about 1:2000-2500 live female births. While short stature and delayed puberty are the most common presentations of patients, atypical findings can also be seen. In this article, we present the Turner twins, who were diagnosed during inguinal hernia surgery when bilateral uterus and ovaries were found within the hernia sac. To the best of our knowledge, our cases were the first defined heterokaryotic monozygotic twins with isochromosome Xq 46,X,i(X)(q10) and Xq mosacism (46,X,i(X)(q10;q10) [42]/47,X,i(X)(q10;q10)x2[8]).