Vol 92, No 5 (2021)
Clinical vignette
Published online: 2021-05-11

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A case of late diagnosis and management of 46 XY complete gonadal dysgenesis in adulthood

Karolina Kowalczyk1, Dariusz Kowalczyk23, Marlena Cwynar4, Dominika Kmita4, Kamil Kowalczyk5
Pubmed: 34105736
Ginekol Pol 2021;92(5):396-397.


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  1. 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.
  2. Hiort O, Birnbaum W, Marshall L, et al. Management of disorders of sex development. Nat Rev Endocrinol. 2014; 10(9): 520–529.
  3. 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.
  4. Jorgensen PB, Kjartansdóttir KR, Fedder J. Care of women with XY karyotype: a clinical practice guideline. Fertil Steril. 2010; 94(1): 105–113.
  5. 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).
  6. 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.
  7. 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.
  8. 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.
  9. 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.