Open AccessNon-obvious diagnosis and breast development in pure gonadal dysgenesis
Author(s) -
Angelika Krawczyk,
Anna Kretek,
Dagmara Pluta,
Artur Nowak,
Paweł Madej
Publication year - 2022
Publication title -
ginekologia polska
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.4
H-Index - 21
eISSN - 2543-6767
pISSN - 0017-0011
DOI - 10.5603/gp.a2022.0029
Subject(s) - gonadal dysgenesis , breast development , medicine , karyotype , gonadoblastoma , dysgerminoma , gynecology , amenorrhea , estrogen , sexual differentiation , primary amenorrhea , dysgenesis , secondary sex characteristic , obstetrics , chromosome , physiology , pregnancy , hormone , ovary , biology , genetics , anatomy , gene
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.