Turner syndrome is a congenital condition affecting 1 in every 2500 female live births. This condition is characterized by complete or partial loss of the X chromosome. They commonly present with normal female external and internal genitalia and may develop hypogonadism and streak ovaries later in life. We describe an unusual presentation of a case of Turner syndrome – a 31-year-old Filipino with male phenotype mosaic Turner syndrome, with 46,X,+mar[46]/45,X[4] chromosome, presenting with ambiguous genitalia and a pelvoabdominal mass. The patient underwent exploratory laparotomy, peritoneal fluid cytology, adhesiolysis, tumor debulking (gonadectomy) appendectomy, omentectomy, identification and inspection of bilateral ureters and bladder, gonioscopy and biopsy of the urogenital cavity (bladder vs. vagina). Histopathology revealed a mixed gonadal tumor, consisting of 70% yolk sac tumor, and 30% dysgerminoma. The patient eventually succumbed to postoperative complications. Postmortem fluorescence-in situ hybridization revealed a 46,X,+mar[46]/45,X,[4].ish der (Y) (DYZ3+), a marker of chromosome Y origin, consistent with a mosaic type Turner syndrome, associated with increased risk for gonadal malignancy.
Dysgerminoma ; mixed germ cell tumor ; mosaicism ; yolk sac tumor

Endodermal Sinus Tumor ; Female ; Humans ; Mixed Tumor, Malignant ; Neoplasms, Germ Cell and Embryonal ; Teratoma/pathology* ; Uterus/pathology*

An 18-year-old, G0, with primary amenorrhea consulting because of a rapidly enlarging abdominal mass was diagnosed with Swyer syndrome or 46 XY pure gonadal dysgenesis and subsequently underwent staging laparotomy for mixed germ cell tumor (dysgerminoma and yolk sac tumor) arising from her dysgenetic gonad. Bleomycin, etoposide, cisplatin regimen for three to four cycles was planned but the patient was lost to follow-up. A prompt evaluation of her amenorrhea and a timely gonadectomy could have averted the development of malignancy.

Human ; Female ; Amenorrhea ; Gonadal Dysgenesis ; Swyer Syndrome ; Mixed Germ Cell Tumor Of Ovary