Gonadal malignancy in 202 female patients with disorders of sex development containing Y-chromosome material

Abstract

The objective of this study was to examine risks for gonadal malignancy in a large sample of adult female patients with disorders of sex development (DSD). A retrospective-observational study was conducted from July 1992 to March 2015 and 202 women with DSD were enrolled. Tumor risks for different types of DSD were measured. We found that the patients' total gonadal-malignancy risk was 18.3% (37/202). Tumors included gonadoblastoma (n = 11), seminoma (n = 8), dysgerminoma (n = 5), choriocarcinoma (n = 1), sertoli cell tumors (n = 11), and leydig cell tumors (n = 1). The incidence of gonadal malignancy in patients with complete androgen insensitivity syndrome (CAIS), pure 46, XY gonadal dysgenesis, 45 X/46 XY mixed gonadal dysgenesis, 17α-hydroxylase/17, 20-lyase deficiency and partial androgen insensitivity syndrome (PAIS) were 27.1% (13/48), 22.4% (15/67), 10.9% (5/46), 10% (2/20) and 9.5% (2/21), respectively. Our results suggest that the incidence of gonadal malignancy increases with age for female patients with Y-chromosome material. Upon diagnoses, immediate, prophylactic gonadectomies should be considered for adult female patients with DSD containing Y chromosome material if they cannot receive regular follow-ups.

Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y‐derived sequence

“…Phenotypic female DSD patients with Y chromosome or Y‐derived sequence have a significantly increased risk of GCTs compared to the general population, and prophylactic bilateral gonadectomy is currently recommended to prevent tumour occurrence . The previous study of our centre analysed proportion and malignancy rate of different clinical categories of DSD in a subgroup of this cohort. We now further included 121 patients and extended the observations on a larger group of patients to analyse detailed aspects of tumour risk, including the malignancy risk under the age of 20 and over the age of 20 in each category, other features of patients with tumours (the gonad position, sex hormone levels and utility of tumour markers) and our experience of HRT after surgery in DSD individuals.…”

“…The study retrospectively investigated the medical records of 292 patients, who were diagnosed DSD with Y chromosome or Y‐derived sequence and received bilateral gonadectomy at Peking Union Medical College Hospital from January 1996 to March 2016. Our centre has previously presented a subgroup of this cohort comprising 171 individuals . We now further included 121 patients of DSD and extended the observations on a larger group of patients to analyse detailed aspects of tumour risk.…”

Gonadal dysgenesis is associated with worse outcomes in patients with ovarian nondysgerminomatous tumors: A report of the Children's Oncology Group AGCT 0132 study

“…This condition affects one in 4,500–5,000 live births, and encompasses a wide spectrum of phenotypic presentations including normally virilized males or undervirilized males, patients with ambiguous genitalia, and normal phenotypic females . The diagnosis of GD places the patient at an increased risk (15–60%) for developing gonadal germ cell tumors (GCT), especially gonadoblastoma . The presence of Y‐chromosome material or an intraabdominal gonad position increases the risk of developing a gonadal GCT …”

Pseudopapillary and Macrofollicular Microscopic Growth Patterns in an Advanced Stage Ovarian Dysgerminoma: A Case Report

“…Despite the fact, metastatic spread in the early stages is not common . 5 It has been suggested that highly cellular tumors with a small amount of stroma and lymphocytic infiltration as well as marked atypia and high mitotic activity tend to be more aggressive (12). However, there is still no good evidence for predicting the behavior of neoplasm by its histologic appearance (8,17).…”

“…Embryonal carcinoma, yolk sac tumor, clear cell carcinoma, malignant lymphoma, sex cord stromal tumors including sertoli leydig and steroid cell tumor are the main differential diagnoses of dysgerminoma on histologic examination (5,10,14). Distinct cytologic features, lobulated architecture with lymphocytes in the interlobular fibrous septa, and immunohistochemistry are helpful for an accurate diagnosis (5).…”