open access

Vol 93, No 6 (2022)
Clinical vignette
Published online: 2022-06-03
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Non-obvious diagnosis and breast development in pure gonadal dysgenesis

Angelika Krawczyk1, Anna Kretek1, Dagmara Pluta2, Artur Nowak3, Pawel Madej2
·
Pubmed: 35730347
·
Ginekol Pol 2022;93(6):519-520.
Affiliations
  1. Students Scientific Association of Gynecological Endocrinology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland
  2. Department of Gynecological Endocrinology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland
  3. Gynecological and Obstetrician Polyclinic, Bialystok, Poland

open access

Vol 93, No 6 (2022)
CLINICAL VIGNETTES
Published online: 2022-06-03

Abstract

Pure gonadal dysgenesis is a situation when the karyotype is 46, XY, but for various reasons there is a disorder of differentiation of Wolffian and Mullerian structures and in consequence the phenotype is female. It is known that abdominal gonads and the presence of Y chromosome allow to qualify this condition as a high risk of tumor. In most cases breast development is limited because of lack or low level of estrogen. A 27-year-old patient with differences of sexual development (DSD), was admitted to the Department of Endocrinological Gynecology for a control examination. In the history: dysgerminoma, primary amenorrhea and ambiguous karyotype. The patient has not taken hormonal replacement therapy. The breast development is Tanner stage V.

Abstract

Pure gonadal dysgenesis is a situation when the karyotype is 46, XY, but for various reasons there is a disorder of differentiation of Wolffian and Mullerian structures and in consequence the phenotype is female. It is known that abdominal gonads and the presence of Y chromosome allow to qualify this condition as a high risk of tumor. In most cases breast development is limited because of lack or low level of estrogen. A 27-year-old patient with differences of sexual development (DSD), was admitted to the Department of Endocrinological Gynecology for a control examination. In the history: dysgerminoma, primary amenorrhea and ambiguous karyotype. The patient has not taken hormonal replacement therapy. The breast development is Tanner stage V.

Get Citation

Keywords

pure gonadal dysgenesis; breast development; differences of sexual development

About this article
Title

Non-obvious diagnosis and breast development in pure gonadal dysgenesis

Journal

Ginekologia Polska

Issue

Vol 93, No 6 (2022)

Article type

Clinical vignette

Pages

519-520

Published online

2022-06-03

Page views

4285

Article views/downloads

490

DOI

10.5603/GP.a2022.0029

Pubmed

35730347

Bibliographic record

Ginekol Pol 2022;93(6):519-520.

Keywords

pure gonadal dysgenesis
breast development
differences of sexual development

Authors

Angelika Krawczyk
Anna Kretek
Dagmara Pluta
Artur Nowak
Pawel Madej

References (4)
  1. Acién P, Acién M. Disorders of sex development: classification, review, and impact on fertility. J Clin Med. 2020; 9(11).
  2. Jorgensen PB, Kjartansdóttir KR, Fedder J. Care of women with XY karyotype: a clinical practice guideline. Fertil Steril. 2010; 94(1): 105–113.
  3. Morin J, Peard L, Saltzman AF. Gonadal malignancy in patients with differences of sex development. Transl Androl Urol. 2020; 9(5): 2408–2415.
  4. van de Grift TC, Kreukels BPC. dsd-LIFE. Breast development and satisfaction in women with disorders/differences of sex development. Hum Reprod. 2019; 34(12): 2410–2417.

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