46, XX Ovotesticular disorder of sex development (true hermaphroditism) with seminoma

Abstract

Rationale: Ovotesticular disorder of sex development (DSD), previously known as true hermaphroditism, is a disorder in which individuals have both testicular and ovarian tissues. Instances of tumors arising in the gonads of individuals with 46,XX ovotesticular DSD are uncommon. Patient concerns: We report a case of a 36-year-old phenotypical male with a chief complaint of an abdominal mass for 3 months. He reported normal erections and regular menses. Computerized tomography showed a large tumor measuring 15 × 10 cm in size, a uterus, and a cystic ovary. Diagnosis: 46, XX ovotesticular DSD with seminoma. Interventions: The patient was treated with neochemotherapy (etoposide and cisplatin), surgery, chemotherapy, and testosterone replacement. Outcomes: At the 13-month follow-up, the patient reported satisfactory erections, and no evidence of disease was found. Conclusion: Cases of 46,XX ovotesticular DSD with seminoma are uncommon. Our case reveals the importance of surgery combined with neochemotherapy, chemotherapy, and testosterone replacement in these patients to improve the prognosis.

Diagnosis and Management of Dysgerminomas with a Brief Summary of Primitive Germ Cell Tumors

“…The diagnosis is by laparoscopy with a biopsy and histopathological examination, consisting of a scattered tumoral pattern, which is interrupted by fibrous septa, with uniform tumoral cells represented by a clear-to-eosinophilic cytoplasm and a round-to-oval nuclei, with a finely granular chromatin and flattened edges. Chromosomal mapping of the histological piece would be important [ 34 , 52 , 53 ]. The seminoma can overlap a gonadoblastoma, which is developed from dysgenetic ovaries and includes a mixture of germ cells with immature Sertoli cells and granulosa cells and was first described by Scully et al in 1970 [ 53 ].…”

“…Chromosomal mapping of the histological piece would be important [ 34 , 52 , 53 ]. The seminoma can overlap a gonadoblastoma, which is developed from dysgenetic ovaries and includes a mixture of germ cells with immature Sertoli cells and granulosa cells and was first described by Scully et al in 1970 [ 53 ].…”

“…As in dysgerminoma, biomarkers such as BHCG, AFP, LDH and alkaline phosphatase are important. Imaging can reveal ovotestis with seminoma inside the abdomen or groin region, with similar characteristics to a dysgerminoma [ 52 , 53 , 54 , 55 , 56 ]. It responds well to radiotherapy and chemotherapy with platinum-based products, but the first line of treatment is still surgical removal, due to malignancy.…”

Cytogenetic and molecular characterization of an SRY-negative 46, XX ovotesticular DSD

“…In the present study, the OT-DSD 46, XX patient presented as SRY-negative. Recent studies indicate that the SRY gene is permissive, but not mandatory for testicular differentiation 5,7,12 . OT-DSD 46, XX Individuals that are SRY-negative can be explained by several mechanisms: increased expression of pro-testicular genes, such as SOX3, SOX9 and SOX10 genes; insufficient expression of pro-ovarian genes, such as RSPO1 and WNT4, and mutation in the NR5A1 gene, which is responsible for regulating gonadal and adrenal development 7,[13][14][15][16] .…”

“…OT-DSD individuals are chromosomally heterogeneous, and may present karyotype 46, XX (70%), mosaicism or chimerism 46, XX / 46, XY (20%) or 46, XY (10%) 4,5 . In most cases, OT-DSD 46, XX has negative SRY (sex-determining region Y), although translocation of the SRY gene from the Y chromosome to the X chromosome may occur 6,7 .…”