True hermaphroditism with sex cord tumor with annular tubules (SCTAT): a rare case report and review of the literature

Abstract

Background True hermaphroditism is a rare condition. It is defined as the presence of both testicular and ovarian tissues in the same individual. Sex cord tumour with annular tubules (SCTAT) is a rare stromal tumour of the sex cord that occurs mostly in the ovaries. Case presentation A 16-year-old girl presented to the gynaecology department with primary amenorrhea. Gynaecological examination revealed an enlarged clitoris that looked like a small penis. The chromosome karyotype was chimaera. The postoperative pathology confirmed true hermaphroditism with SCTAT. The patient underwent hormonal replacement after an operation and had no evidence of recurrence for 6 months. Conclusion Cases of true hermaphroditism with SCTAT are extremely rare conditions. Surgery and hormonal replacement are important for improving the prognosis of such patients.

Relevance of Molecular Pathology for the Diagnosis of Sex Cord–Stromal Tumors of the Ovary: A Narrative Review

“…A Peutz-Jeghers syndrome is present in approximatively 36% of the cases [163]. While tumors typically represent an incidental finding in patients with Peutz-Jeghers syndrome, abdominal/pelvic pain, primary amenorrhea, and hormonal manifestations such as sexual precocity, menstrual irregularities, or postmenopausal bleeding may reveal the lesion [163,164]. The distinction between syndromic and non-syndromic cases is crucial, since syndromic tumors are considered benign, whereas non-syndromic tumors may exhibit extraovarian spread in 20% of the cases [8,165,166].…”