Background: Complete androgen insensitivity syndrome (CAIS) is an AIS condition that results in the complete inability of the cell to respond to androgens. Individuals with complete androgen insensitivity syndrome are born phenotypically female, without any signs of genital masculinization, despite having a 46, XY karyotype.
Case report:
We present a case of a 66 year nulliparous female with primary amenorrhea with complaints of bilateral inguinal mass for 5 years and bilateral breast lump for 3 years. The patient developed a sudden increase in the size of a left breast lump. An MRI chest revealed a large 15.4x11.5cm heterogeneous mass in the left breast and a 9.9x6.1 cm lobulated mass in the right breast. MRI abdomen and pelvis revealed soft tissue structures in the bilateral inguinal region near the deep inguinal ring with a blind-ending vaginal tract and absent uterus and ovaries. karyotyping revealed 46XY. We received specimens of left MRM, right lumpectomy and bilateral inguinal mass. Left MRM measured 32x20x12cm. The cut section showed a large tumour with a variegated appearance. The right lumpectomy showed a tumour with a leaf-like appearance noted. The bilateral inguinal mass measured 5x3x3 cm each; the cut section showed yellowish nodules. Histopathological examination reveals malignant phyllodes of the left breast, benign phyllodes of the right breast, and Leydig cell hyperplasia of bilateral testes. Conclusion:
This is the first case reported of malignant phyllodes in a case of complete androgen insensitivity syndrome with bilateral Leydig cell hyperplasia of testes.
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