Endocrine Abstracts

46, XY complete gonadal dysgenesis, also known as Swyer Syndrome, is characterized by the presence of normal female external genitalia at birth, late puberty and primary amenorrhea. Spontaneous menses (due to hormone-secreting tumor) and breasts development occur in rare cases. With proper hormonal substitution, patients could carry pregnancies achieved through IVF with donor oocytes.

Case presentation

Female patient, aged 22, addresses endocrinology specialist for a routine examination. She mentions having first menses when she was 14, with spontaneous menses for the next 5 years followed by secondary amenorrhea, for which she started estroprogestative substitution after medical recommendation, resulting in regular menstrual cycles and normal breast development. She came to our clinic for amenorrhea after stopping the hormone substitution therapy. Clinical investigations contributed to the diagnosis of hypergonadotropic hypogonadism, with testosterone in normal range and low estradiol. A karyotype test was performed with the result of 46, XY genotype without structural or numerical abnormalities. FISH testing revealed the presence of SRY, DXZ1 and DYZ1, therefore, the patient was advised to seek further genetic analysis. MRI showed Mullerian structures, infantile uterus with Fallopian tubes but instead of gonads, fibrotic bands could be seen. Considering the risk of developing a gonadoblastoma or even a dysgerminoma in a patient with Disorders of Sexual Development, the patient was advised to present to the Surgical Department to undergo exploratory laparotomy and resection of dysgenetic gonads, followed by estroprogestative substitution. Histopathological examination and immunohistochemistry analysis revealed that one of the dysgenetic gonad was a dysgerminoma with Ki67 positive in 17% of tumor cells, and the other one was a testes having Wolffian and Mullerian structures with no tumor characteristics.