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Male hermaphroditism with rare malignant transformation of gonadal organs: a case report.

Discov Oncol

August 2024

Department of Urology, Ya'an People's Hospital, No. 9 Ankang Road, Yucheng District, Ya'an City, Sichuan, China.

A 27-year-old man was admitted to the hospital after a year of marriage due to infertility. During laparoscopic exploratory surgery, the presence of a retrovesical uterus was clearly observed, and the gonadal organs were visible on both sides. However, the testicles or ovaries were not identifiable, nor were the spermatic vessels and fallopian tubes at the joint.

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Article Synopsis
  • The study evaluates gonadoblastoma by examining clinical features, pathological morphology, and immunohistochemical characteristics through three patient cases treated between 2014 and 2020.
  • The cases involved phenotypical females with varied chromosomal types and presented with specific microscopic features like small nests of primitive germ cells and sex cord-like cells.
  • The findings suggest that gonadoblastoma is a rare tumor often linked with gonadal hypoplasia, and the study emphasizes the need for better understanding and accurate diagnosis to avoid misclassifications with similar tumors.
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Swyer syndrome is a rare congenital condition that serves as a risk factor for developing germ cell tumors. The condition belongs to the group of 46, XY disorders of sexual development, is characterized by complete gonadal dysgenesis (CGD) and is mostly manifested as delayed puberty and primary amenorrhea during adolescence. Individuals with Swyer syndrome are known to be phenotypically female with normal internal and external female genitalia at birth.

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Terminal deoxynucleotidyl transferase (TdT) is a unique type of DNA polymerase predominantly expressed in precursor lymphoid cells and acute lymphoblastic leukemia. It participates in the junctional diversity of T-cell receptors and immunoglobulins. Recently, aberrant TdT expression was found in seminomas.

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