Can boys have Turner syndrome? More than a question of semantics
Abstract
Individuals with 45,X mosaicism with Y chromosome material raised as boys are not diagnosed with Turner syndrome, a label restricted to phenotypic females. We sought to determine if boys with 45,X mosaicism had features consistent with Turner syndrome. Twenty-two patients (14 girls, 8 boys) seen in our Differences of Sex Development (DSD) clinic were identified for review. Standardized height (z-scores) by sex of rearing and results of cardiology, renal, audiology, thyroid, and celiac screenings were recorded. All subjects had heights below the mean for sex. Z-scores were not significantly different between boys and girls (p = 0.185). There were no significant differences in the incidence of cardiac anomalies between boys and girls (p = 0.08). Girls were more likely to have additional screenings (p = 0.042), but there were no significant differences in the number of positive screenings between boys and girls (p = 0.332). Patients with 45,X mosaicism raised as boys appear to have features similar to patients with the same karyotype raised as girls. Routine screening of boys following the Turner Syndrome Clinical Practice Guidelines may allow early recognition of comorbidities. Additionally, obtaining karyotypes on boys with short stature or other features of Turner syndrome may identify unrecognized cases of 45,X mosaicism.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
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 [44]
Cites
Birth prevalence of congenital heart disease worldwide
van der Linde, D., Konings, E. E. M., Slager, M. A., Witsenburg, M., Helbing, W. A., Takkenberg, J. J. M., & Roos-Hesselink, J. W. (2011) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2011.08.025 · Cited by 3,452 · see citing works
Gravholt, C. H., Andersen, N. H., Conway, G. S., Dekkers, O. M., Geffner, M. E., Klein, K. O., Lin, A. E., Mauras, N., Quigley, C. A., Rubin, K., et al. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0430 · Cited by 1,101 · see citing works
45,X/46,XY Mosaicism: Report of 27 Cases
Telvi, L., Lebbar, A., Pino, O. D., et al. (1999) · PEDIATRICS · doi:10.1542/peds.104.2.304 · Cited by 306 · see citing works
The role of a clinical score in the assessment of ambiguous genitalia
Ahmed, S. F., Khwaja, O., & Hughes, I. A. (2000) · British Journal of Urology · doi:10.1046/j.1464-410x.2000.00354.x · Cited by 263 · see citing works
Cools, M., Pleskacova, J., Stoop, H., Hoebeke, P. B., LAECKE, E. V., Drop, S. L. S., Lebl, J., Oosterhuis, J. W., Looijenga, L. H. J., Wolffenbuttel, K. P., et al. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-0232 · Cited by 157 · see citing works
Phenotypic spectrum of 45,X/46,XY males with a ring Y chromosome and bilaterally descended testes
Layman, L. C., Tho, S. P. T., Clark, A. D., et al. (2008) · Fertility and Sterility · doi:10.1016/j.fertnstert.2007.12.078 · Cited by 122 · see citing works
Martinerie, L., Morel, Y., Gay, C.-L., Pienkowski, C., de Kerdanet, M., Cabrol, S., Lecointre, C., Coutant, R., Baron, S., Colle, M., et al. (2012) · European Journal of Endocrinology · doi:10.1530/eje-11-0756 · Cited by 115 · see citing works
Description of children with 45,X/46,XY karyotype
Tosson, H., Rose, S. R., & Gartner, L. A. (2011) · European Journal of Pediatrics · doi:10.1007/s00431-011-1600-9 · Cited by 98 · see citing works
Shifting syndromes: Sex chromosome variations and intersex classifications
Griffiths, D. A. (2018) · Social Studies of Science · doi:10.1177/0306312718757081 · Cited by 91 · see citing works
Dumeige, L., Chatelais, L., Bouvattier, C. M., et al. (2018) · European Journal of Endocrinology · doi:10.1530/eje-18-0309 · Cited by 56 · see citing works
Growth in Boys with 45,X/46,XY Mosaicism: Effect of Growth Hormone Treatment on Statural Growth
Bertelloni, S., Baroncelli, G. I., Massart, F., & Toschi, B. (2015) · Sexual Development · doi:10.1159/000441342 · Cited by 54 · see citing works
Children with 45,X/46,XY Karyotype from Birth to Adult Height
Tosson, H., Rose, S. R., & Gartner, L. A. (2010) · Hormone Research in Paediatrics · doi:10.1159/000281468 · Cited by 47 · see citing works
Richter-Unruh, A., Knauer-Fischer, S., Kaspers, S., et al. (2004) · European Journal of Pediatrics · doi:10.1007/s00431-004-1406-0 · Cited by 45 · see citing works
Ljubicic, M. L., Jørgensen, A., Acerini, C. L., de Andrade, J. G. R., Balsamo, A., Bertelloni, S., Cools, M., Tadokoro‐Cuccaro, R., Darendelıler, F., Flück, C. E., et al. (2019) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-02752 · Cited by 42 · see citing works
Cardiovascular Pathology in Males and Females with 45,X/46,XY Mosaicism
Groote, K. D., Cools, M., Schepper, J. D., Craen, M., François, I., Devos, D., Carbonez, K., Eyskens, B., & Wolf, D. D. (2013) · PLoS ONE · doi:10.1371/journal.pone.0054977 · Cited by 38 · see citing works
The Clinical Manifestation and Genetic Evaluation in Patients with 45,X/46,XY Mosaicism
Wu, Q., Wang, C., Shi, H., Kong, X., Ren, S., & Jiang, M. (2017) · Sexual Development · doi:10.1159/000455260 · Cited by 27 · see citing works
Shinawi, M. S., Cain, M. P., VanderBrink, B. A., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33475 · Cited by 26 · see citing works
Guzewicz, L., Howell, S., Crerand, C. E., Umbaugh, H., Nokoff, N. J., Barker, J., & Davis, S. M. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62127 · Cited by 22 · see citing works
Guedes, A. D., Bianco, B. A. V., Lipay, M. V. N., et al. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31363 · Cited by 20 · see citing works
Follow‐up of Ullrich's original patient with “Ullrich‐Turner” syndrom
Wiedemann, H. ‐., & Glatzl, J. (1991) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320410132 · Cited by 20 · see citing works
Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome
Silvestre, C., Dupont, J., Santos, R. S., et al. (2019) · Case Reports in Pediatrics · doi:10.1155/2019/8563095 · Cited by 6 · see citing works
45,X/46,XY Mosaicism and Possible Association With Hypothyroidism in Males
Hojat, L. S., & Schweiger, B. M. (2015) · Clinical Pediatrics · doi:10.1177/0009922815600439 · Cited by 2 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
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
- Authors
- Knoll, M. M., Strickland, J., & Jacobson, J. D.
- Affiliations
- Children's Mercy Hospital (US)
- Venue
- Sexual Development
- Publisher
- S. Karger AG
- Published
- 2021-08-10
- Volume
- 16
- Issue
- 1
- Pages
- 19-26
- ISSN
- 1661-5425 (ISSN-L)
- 1661-5433
- OpenAlex
- W3192116941
- Cited by
- 4
- References
- 22
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2023: 1
- FWCI
- 0.28
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Sexual Development (publishedVersion)
- PubMed (publishedVersion)
- 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
- Turner syndrome, sex of rearing, male Turner syndrome, short stature, sex differences in phenotype, cardiac anomalies, karyotype, disorders of sex development
- MeSH terms
- Body Height, Female, Humans, Karyotyping, Male, Mosaicism, Semantics, Turner Syndrome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
