Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype
Open accessAbstract
Individuals mosaic for monosomy X and a cell line with Y chromosome material can have genitalia that appear phenotypical female, male, or ambiguous. Those with this karyotype and typical female genitalia are diagnosed with Turner syndrome; however, this definition specifically excludes those with genitalia other than typical female. There is limited information on whether medical and neurodevelopmental risks are similar among individuals with monosomy X and Y chromosome material across genital phenotypes. This multicenter retrospective study compared comorbidities and clinical management in individuals with monosomy X and Y material and male/ambiguous genitalia to those with typical female genitalia. Electronic medical records for all patients with monosomy X and Y material (n = 76) at two large U.S. pediatric centers were abstracted for predetermined data and outcomes. Logistic regression was used to compare the two phenotypic groups adjusting for site and duration of follow-up. The male/ambiguous genitalia group was just as likely to have congenital heart disease (RR 1.0, 95%CI [0.5-1.9]), autoimmune disease (RR 0.6 [0.2-1.3]), and neurodevelopmental disorders (RR 1.4 [0.8-1.2]) as those with female genitalia. Despite similar risks, they were less likely to receive screening and counseling. In conclusion, individuals with monosomy X and Y chromosome material have similar medical and neurodevelopmental risks relative to individuals with Turner syndrome regardless of genitalia, but there are notable differences in clinical management.
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Individuals with 45,X/46,XY mosaicism and ambiguous or male genitalia are less likely to receive appropriate counseling and assessments.
“However, studies have shown that individuals with 45,X/46,XY mosaicism and ambiguous or male genitalia are less likely to receive appropriate counseling and assessments, highlighting disparities in clinical practice.43,44”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [43]
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works
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- Authors
- Guzewicz, L., Howell, S., Crerand, C. E., Umbaugh, H., Nokoff, N. J., Barker, J., & Davis, S. M.
- Affiliations
- SUNY Upstate Medical University (US)
- Children's Hospital Colorado (US)
- Nationwide Children's Hospital (US)
- Corresponding author
- Davis, Shanlee M.
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2021-02-22
- Volume
- 185
- Issue
- 5
- Pages
- 1437-1447
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- PMC
- PMC8259779
- OpenAlex
- W3132077920
- Cited by
- 22
- References
- 32
- Citations by year
- 2026: 4 · 2025: 7 · 2024: 5 · 2023: 4 · 2022: 1 · 2021: 1
- FWCI
- 1.55
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (K23HD092588)
- National Center for Research Resources (UL1TR002535)
- National Heart, Lung, and Blood Institute (K23HL151868)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- monosomy X, Turner syndrome, ambiguous genitalia, male genitalia, congenital heart disease, autoimmune disease, neurodevelopmental disorders, clinical management, comorbidities
- MeSH terms
- Adolescent, Child, Female, Genitalia, Humans, Male, Monosomy, Mosaicism, Phenotype, Sex Chromosome Aberrations, Disorders of Sex Development, Turner Syndrome, In Situ Hybridization, Fluorescence, Chromosomes, Human, Y, Karyotype
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