Abstract
We hypothesized that because 45,X/46,XY (X/XY) children share a cell line with Turner syndrome (TS), they also share co-morbidities described in TS. In addition, the presence of the Y chromosome in brain and in other body tissues would influence their function. On the basis of our findings, we aimed to establish optimal procedures for clinical evaluation, management, and follow-up of these children. Sixteen X/XY children were evaluated and managed at a single institution as part of standard clinical care as established at the time between 1969 and 2009. In January of 2005, we started retrospective record review of all X/XY children in combination with cohort follow-up (of those who had not reached adult height) until August of 2009. The study included review of clinical presentation, clinical characteristics, diagnostic measures, radiologic studies, karyotype studies, psycho-endocrinology evaluation, and growth-promoting treatments. There was no specific intervention. Phenotype reflected cell line distribution. The presence of 45,X cell line explains how X/XY children have abnormalities similar to girls with TS, while presence of Y chromosome explains why they have tomboyish behavior. In conclusion, these children require clinical evaluation similar to that performed in female children with TS, including cardiovascular, renal, endocrine, growth and development, autoimmune, psychological, and educational evaluation. Specific management needs to be tailored to the presence of Y chromosomal material.
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Acknowledgements
The authors especially thank Margaret McGillivray, MD; Mary Voorhees, MD; Barbara Shine, RN; and Wanda Musial, RN, PNP, for their care of these children and thorough, detailed record documentation. We appreciate the contributions of Dr. Thomas Mazur and Dr. David Sandberg, psychoendocrinologists.
Conflict of interest
There is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported. This research did not receive any specific grant from any funding agency in the public, commercial, or not-for-profit sector. The authors have nothing to declare.
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Tosson, H., Rose, S.R. & Gartner, L.A. Description of children with 45,X/46,XY karyotype. Eur J Pediatr 171, 521–529 (2012). https://doi.org/10.1007/s00431-011-1600-9
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DOI: https://doi.org/10.1007/s00431-011-1600-9