A case of a 45,X,46,X+mar male phenotype mosaic Turner syndrome with a mixed gonadal germ cell tumor / Philippine Journal of Obstetrics and Gynecology

@#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.

A rare case of an Isochromosome Mosaic Turner Syndrome

@#Turner syndrome is characterized by a complete or partial absence of one X chromosome. The most common karyotype is 45,X0. A variant of Turner syndrome is Isochromosome Mosaic Turner syndrome which presents with an abnormality of the chromosome structure. This is a case of a 22 year old female who presented with short neck, widely spaced nipples, low posterior hairline, absence of nose bridge, minimal axillary hair and underdeveloped breasts. Ultrasound examination showed an infantile uterus with small ovaries. Her karyotype showed an isochromosome of the long arm of the X chromosome and the remaining eight cells showed a loss of one X chromosome, resulting in monosomy X (ISCN: 46,X,i(X)(q10)[42]/45,X[8]). Hormonal evaluation showed a hypergonadotropic and hypogonadism state. Test results for auditory, ophthalmologic, cardiac and renal functions were all within normal limits. The patient was diagnosed with isochromosome mosaic Turner syndrome and started on hormonal therapy.