Disorders of Sex Development and Malignant Germ Cell Tumors

GERM CELL TUMORS 1Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico; 2American Oncofertility Consortium, Chicago, Illinois; 3Feinberg School of Medicine, Northwestern University, Chicago, Illinois THE CASE A woman, aged 44 years, presented at the general oncology outpatient clinic with bloating, abdominal pain, and significant unintended weight loss. On physical examination, she was phenotypically female, with Tanner stage III-IV breast development and female genitalia with Tanner stage II pubic hair development. An ultrasound-guided core needle biopsy of the pelvic tumor was obtained and histopathological analysis reported a seminomatous germ cell tumor (GCT) (Figure 2). The GCT risk is markedly increased after puberty and reaches 33% by age 50 years.6 The principal difference in the risk level between PAIS and CAIS is explained by the rapid and total loss of germ cells in CAIS, starting at age 1 year, whereas in PAIS, patients maintain their germ cell population at about two-thirds of the normal number at puberty.15,16 The estimated GCT prevalence in patients with DSDs and different types of precursor lesions are summarized in Table 2.