What is it about?
Boys with 45X/46XY chromosomes are not considered to have Turner Syndrome— this diagnosis is only for girls with a 45X chromosome component. However, there are criteria for screening these girls that includes looking for heart conditions, kidney abnormalities, growth difficulties, thyroid conditions, and others. There are no such recommendations for boys, but we demonstrate that our population has similar rates of these conditions to the girls.
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Why is it important?
Routine screening for associated conditions may help reduce long term morbidity in this population.
Perspectives
This study adds to a growing body of work that has been advanced by our understanding of genetic conditions. Turner syndrome was discovered before we knew the genetic basis of the condition, and tradition has kept the definition limited. We do a disservice to the young men diagnosed with 45X mosaicism by not treating them, from a medical standpoint, as having Turner Syndrome.
Michelle Knoll
Children's Mercy Hospitals and Clinics
Read the Original
This page is a summary of: Can Boys Have Turner Syndrome? More than a Question of Semantics, Sexual Development, August 2021, Karger Publishers,
DOI: 10.1159/000518092.
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