[Mixed gonadal dysgenesis with seminoma: a case report]

Area of Science:

• Endocrinology
• Oncology
• Genetics

Background:

• Mixed gonadal dysgenesis (MGD) is a rare disorder of sexual development characterized by the presence of both testicular and ovarian tissues.
• Gonadal tumors, particularly seminomas, can arise in individuals with MGD, presenting diagnostic and therapeutic challenges.

Observation:

• A 43-year-old individual raised as female presented with left inguinal swelling.
• Physical examination revealed short stature, ambiguous external genitalia, and a large left inguinal mass.
• CT scan identified a child's head-sized tumor in the left inguinal region.

Findings:

• Histopathological diagnosis confirmed anaplastic seminoma of the left gonad.
• The right gonad was identified as a streak gonad with immature uterine and fallopian tube structures.
• This case represents the eighth reported instance of a gonadal tumor associated with MGD in Japanese literature.

Implications:

• This case underscores the importance of thorough evaluation in patients with ambiguous genitalia and gonadal masses.
• Early detection and management are crucial for improving outcomes in MGD patients with associated malignancies.
• Further research into the pathogenesis and optimal treatment strategies for gonadal tumors in MGD is warranted.