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  • Title: Non-obvious diagnosis and breast development in pure gonadal dysgenesis.
    Author: Krawczyk A, Kretek A, Pluta D, Nowak A, Madej P.
    Journal: Ginekol Pol; 2022; 93(6):519-520. PubMed ID: 35730347.
    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.
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