Female with 46, XY karyotype
Open accessAbstract
Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare cases of 46, XY DSD, including XY pure gonadal dysgenesis and complete androgen insensitivity syndrome, who underwent a prophylactic gonadectomy.
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DSD is a group of rare conditions involving genes, hormones and reproductive organs.
“DSD is a group of rare conditions involving genes, hormones and reproductive organs [11, 12].”
From Integrating Transwomen and Female Athletes with Differences of Sex Development (DSD) into Elite Competition: The FIMS 2021 Consensus Statement (2021) · cites this paper as [12]
The Introduction describes DSD as congenital conditions involving atypical chromosomal, gonadal, and phenotypic development, and links 46, XY DSD to gene interactions and hormone regulation. It calls 46, XY DSD rare, but does not establish that DSD as a whole is rare. (LLM, conf=0.86)
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Cites
Berek, J. S. (2019) · Cited by 477 · see citing works
Gonadoblastoma Arising in Undifferentiated Gonadal Tissue within Dysgenetic Gonads
Cools, M., Stoop, H., Kersemaekers, A. F., et al. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-2554 · Cited by 227 · see citing works
Complete Androgen Insensitivity Syndrome—A Review
Oakes, M. B., Eyvazzadeh, A. D., Quint, E. H., et al. (2008) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2007.09.006 · Cited by 200 · see citing works
Ismail‐Pratt, I., Bikoo, M., Liao, L.-M., et al. (2007) · Human Reproduction · doi:10.1093/humrep/dem074 · Cited by 185 · see citing works
Deans, R., Creighton, S. M., Liao, L., & Conway, G. S. (2012) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2012.04330.x · Cited by 184 · see citing works
Care of women with XY karyotype: a clinical practice guideline
Jørgensen, P. B., Kjartansdóttir, K. R., & Fedder, J. (2009) · Fertility and Sterility · doi:10.1016/j.fertnstert.2009.02.087 · Cited by 114 · see citing works
Inguinal hernia in female infants: a cue to check the sex chromosomes?
Deeb, A., & Hughes, I. A. (2005) · British Journal of Urology · doi:10.1111/j.1464-410x.2005.05639.x · Cited by 75 · see citing works
Michala, L., & Creighton, S. M. (2009) · Best Practice & Research Clinical Obstetrics & Gynaecology · doi:10.1016/j.bpobgyn.2009.09.009 · Cited by 42 · see citing works
A case report of successful pregnancy in a patient with pure 46,XY gonadal dysgenesis
Plante, B. J., & Fritz, M. A. (2008) · Fertility and Sterility · doi:10.1016/j.fertnstert.2008.04.043 · Cited by 41 · see citing works
Bilateral ovarian pregnancy after intrauterine insemination and controlled ovarian stimulation
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Hamilton, B. R., Lima, G., Barrett, J., Seal, L., Kolliari-Turner, A., Wang, G., Karanikolou, A., Bigard, X., Löllgen, H., Zupet, P., et al. (2021) · Sports Medicine · doi:10.1007/s40279-021-01451-8 · Cited by 27 · see citing works
- Authors
- Jung, E. J., Im, D. H., Park, Y. H., Byun, J. M., Kim, Y. N., Jeong, D. H., Sung, M. S., Kim, K. T., An, H. J., Jung, S. J., & Lee, K. B.
- Affiliations
- Department of Obstetrics and Gynecology, Inje University Busan Paik Hospital, Busan, Korea.
- Inje University Busan Paik Hospital (KR)
- Corresponding author
- Lee, Kyung Bok
- ORCID
- Venue
- Obstetrics & Gynecology Science
- Published
- 2017
- Volume
- 60
- Issue
- 4
- Pages
- 378
- ISSN
- 2287-8572 (ISSN-L)
- 2287-8580
- PMC
- PMC5547087
- OpenAlex
- W2744497303
- Cited by
- 25
- References
- 10
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 4 · 2023: 4 · 2022: 7 · 2021: 5 · 2019: 1 · 2018: 1
- FWCI
- 0.22
- Type
- journal article
- Language
- en
- Open access
- diamond
- doi.org
- Licence
- Locations
- Obstetrics & Gynecology Science (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Keywords
- disorders of sex development, 46,XY karyotype, pure gonadal dysgenesis, complete androgen insensitivity syndrome, prophylactic gonadectomy, gonadal malignancy risk
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