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Non-obvious diagnosis and breast development in pure gonadal dysgenesis
- Students Scientific Association of Gynecological Endocrinology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland
- Department of Gynecological Endocrinology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland
- Gynecological and Obstetrician Polyclinic, Bialystok, Poland
open access
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.
Keywords
pure gonadal dysgenesis; breast development; differences of sexual development
Title
Non-obvious diagnosis and breast development in pure gonadal dysgenesis
Journal
Issue
Article type
Clinical vignette
Pages
519-520
Published online
2022-06-03
Page views
4285
Article views/downloads
490
DOI
Pubmed
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
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