How to Cite this Article: Visootsak J, Ayari N, Howell S, Lazarus J, Tartaglia N. 2013. Timing of diagnosis of 47,XXY and 48,XXYY: A survey of parent experiences. Am J Med Genet Part A 161A:268–272.
Timing of diagnosis of 47,XXY and 48,XXYY: A survey of parent experiences†
Article first published online: 15 JAN 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 2, pages 268–272, February 2013
How to Cite
Visootsak, J., Ayari, N., Howell, S., Lazarus, J. and Tartaglia, N. (2013), Timing of diagnosis of 47,XXY and 48,XXYY: A survey of parent experiences. Am. J. Med. Genet., 161: 268–272. doi: 10.1002/ajmg.a.35709
- Issue published online: 24 JAN 2013
- Article first published online: 15 JAN 2013
- Manuscript Accepted: 10 SEP 2012
- Manuscript Received: 20 MAR 2012
- NIH/NICHD. Grant Number: 1K23HD058043-01A1 (JV)
- NIH/NINDS. Grant Number: 1K23NS070337-01A1
- NIH/NCRR Colorado CTSI. Grant Number: UL1RR025780
- University of Colorado IDDRC (NT)
- sex chromosomal aneuploidies;
- delayed diagnosis;
- medical support
47,XXY/Klinefelter syndrome is the most common sex chromosomal aneuploidy, yet 64% of males with this condition go undiagnosed. 48,XXYY is less common and there is less known about the diagnosis. The objective of this study is to describe the diagnosis experiences of parents of males with 47,XXY and 48,XXYY. Parents of 89 males with 47,XXY and 76 males with 48,XXYY completed a survey that gathered data about their experiences leading to a diagnosis, including the current age of the child, age at diagnosis, reasons for initial concern, and the specialists providing the diagnosis. In the 47,XXY cohort diagnosed postnatally, 59% presented with developmental delay, with a mean age at first parental concern of 5.2 years and mean age of diagnosis at 10.0 years. The remaining 41% presented with endocrinologic issues with a mean age at first concern of 19.1 years and mean age of diagnosis at 21.1 years. In the 48,XXYY group, 93% presented with developmental delay, with mean age at first parental concern of 2.4 years and mean age of diagnosis at 7.6 years. Hence, the average time from initial parental concern to diagnosis of 47,XXY or 48,XXYY ranges from 2 to 5 years, with those presenting with developmental issues having a longer lag to diagnosis compared to those presenting with endocrinologic issues. Increased awareness of the developmental, psychological, and medical features of 47,XXY and 48,XXYY is important to facilitate timely diagnosis and initiation of appropriate screenings and treatments that are important for optimal outcomes. © 2013 Wiley Periodicals, Inc.