open access

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

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

Karolina Kowalczyk, Dariusz Kowalczyk, Marlena Cwynar, Dominika Kmita, Kamil Kowalczyk
DOI: 10.5603/GP.a2021.0105
·
Pubmed: 34105736
·
Ginekol Pol 2021;92(5):396-397.

open access

Vol 92, No 5 (2021)
CLINICAL VIGNETTES
Published online: 2021-05-11

Abstract

Not available

Abstract

Not available
Get Citation

Keywords

46 XY complete gonadal dysgenesis; prophylactic gonadectomy; germ cell tumor; difference of sex development

About this article
Title

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

Journal

Ginekologia Polska

Issue

Vol 92, No 5 (2021)

Article type

Clinical vignette

Pages

396-397

Published online

2021-05-11

DOI

10.5603/GP.a2021.0105

Pubmed

34105736

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

References (9)
  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.

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