Non-obvious diagnosis and breast development in pure gonadal dysgenesis

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.

Editorial

“…Despite large and various possibilities of imaging techniques, in some cases options of certain radiological diagnosis are limited, even when few of the techniques are combined [10]. Ultrasonography plays a role of easy to access, available technique, however its results should be later confirmed in more accurate and specific techniques like, magnetic resonance imaging or computed tomography.…”