open access
A case of late diagnosis and management of 46 XY complete gonadal dysgenesis in adulthood
- Department of Gynecological Endocrinology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland
- Department of Anatomy, School of Medicine in Opole, University of Opole, Poland
- Department of Gynecology and Obstetrics, Hospital in Nysa, Poland
- Students Scientific Association of Gynecological Endocrinology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland;
- Department of Urology and Urological Oncology, University Hospital in Wroclaw, Poland
open access
Abstract
Abstract
Keywords
46 XY complete gonadal dysgenesis; prophylactic gonadectomy; germ cell tumor; difference of sex development
Title
A case of late diagnosis and management of 46 XY complete gonadal dysgenesis in adulthood
Journal
Issue
Article type
Clinical vignette
Pages
396-397
Published online
2021-05-11
Page views
669
Article views/downloads
656
DOI
Pubmed
Bibliographic record
Ginekol Pol 2021;92(5):396-397.
Keywords
46 XY complete gonadal dysgenesis
prophylactic gonadectomy
germ cell tumor
difference of sex development
Authors
Karolina Kowalczyk
Dariusz Kowalczyk
Marlena Cwynar
Dominika Kmita
Kamil Kowalczyk
- Cools M, Nordenström A, Robeva R, et al. COST Action BM1303 working group 1. Caring for individuals with a difference of sex development (DSD): a Consensus Statement. Nat Rev Endocrinol. 2018; 14(7): 415–429.
- Hiort O, Birnbaum W, Marshall L, et al. Management of disorders of sex development. Nat Rev Endocrinol. 2014; 10(9): 520–529.
- Berglund A, Johannsen TH, Stochholm K, et al. Incidence, prevalence, diagnostic delay, and clinical presentation of female 46,XY disorders of sex development. J Clin Endocrinol Metab. 2016; 101(12): 4532–4540.
- Jorgensen PB, Kjartansdóttir KR, Fedder J. Care of women with XY karyotype: a clinical practice guideline. Fertil Steril. 2010; 94(1): 105–113.
- Looijenga LHJ, Kao CS, Idrees MT. Predicting gonadal germ cell cancer in people with disorders of sex development; insights from developmental biology. Int J Mol Sci. 2019; 20(20).
- Cools M, Drop SLS, Wolffenbuttel KP, et al. Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers. Endocr Rev. 2006; 27(5): 468–484.
- Pyle LC, Nathanson KL. A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development. Am J Med Genet C Semin Med Genet. 2017; 175(2): 304–314.
- Cools M, Looijenga LHJ, Wolffenbuttel KP, et al. Managing the risk of germ cell tumourigenesis in disorders of sex development patients. Endocr Dev. 2014; 27: 185–196.
- Hanlon AJM, Kimble RM. Incidental gonadal tumors at the time of gonadectomy in women with Swyer syndrome: a case series. J Pediatr Adolesc Gynecol. 2015; 28(2): e27–e29.