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Healthcare and Support Experiences of Adolescents and Young Adults Diagnosed with 47,XXY, 47,XXX, and 48,XXYY

Overview
Publisher Springer
Specialty Health Services
Date 2023 Oct 21
PMID 37864743
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Abstract

Sex chromosome aneuploidies (SCAs) are among the most common chromosomal conditions. There is little scholarship on how adolescents and young adults (AYAs) affected by SCA engage with and adapt to their diagnosis. In order to understand how AYAs adapt to a SCA diagnosis, we conducted a secondary analysis of qualitative interviews with AYAs. Eight in-depth semi-structured interviews with individuals with a diagnosis of 47,XXY, 47,XXX, and 48,XXYY were analyzed for iterative themes related to adaptation to a SCA diagnosis in accordance with standard qualitative methodology. Our findings suggest that the process of adaptation is highly variable and complex and is mediated by external factors including diagnosis delivery and community support. Factors associated with adaptation include feeling understood and supported by healthcare providers; researching the condition; receiving hormone replacement therapy; and receiving support from a community of peers. As access to prenatal and pediatric genetic testing continues to expand, non-genetic pediatric providers are increasingly likely to interact with individuals with SCAs as part of their initial diagnostic odyssey or ongoing medical management. Understanding the diversity of lived experiences of AYAs with SCAs is helpful for healthcare providers to facilitate holistic care and provide meaningful support to patients.

Citing Articles

Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review.

Riggan K, Ormond K, Allyse M, Close S BMC Pediatr. 2024; 24(1):263.

PMID: 38649921 PMC: 11034074. DOI: 10.1186/s12887-024-04723-0.

References
1.
Tartaglia N, Howell S, Sutherland A, Wilson R, Wilson L . A review of trisomy X (47,XXX). Orphanet J Rare Dis. 2010; 5:8. PMC: 2883963. DOI: 10.1186/1750-1172-5-8. View

2.
Riggan K, Gross B, Close S, Steinberg A, Allyse M . "Knowledge is Power": Parent Views on the Benefits of Early Diagnosis and Awareness of Sex Chromosome Multisomy Among Pediatric Professionals. J Dev Behav Pediatr. 2022; 44(2):e119-e125. PMC: 10117700. DOI: 10.1097/DBP.0000000000001153. View

3.
Richardson J, Ahlawat N, Riggan K, Close S, Allyse M . Experiences of individuals receiving a sex chromosome multisomy diagnosis. J Community Genet. 2022; 13(6):619-628. PMC: 9681968. DOI: 10.1007/s12687-022-00604-0. View

4.
Herlihy A, McLachlan R, Gillam L, Cock M, Collins V, Halliday J . The psychosocial impact of Klinefelter syndrome and factors influencing quality of life. Genet Med. 2011; 13(7):632-42. DOI: 10.1097/GIM.0b013e3182136d19. View

5.
Andrew Zganjar , Nangia A, Sokol R, Ryabets A, Samplaski M . Fertility in Adolescents With Klinefelter Syndrome: A Survey of Current Clinical Practice. J Clin Endocrinol Metab. 2019; 105(4). DOI: 10.1210/clinem/dgz044. View