Testicular carcinoma in a female with 46-XY karyotype: a case report

• Main Authors: Siti Nurul Hapsari, Betty Agustina
• Format: Article
• Language: English
• Published: DiscoverSys 2019-08-01
• Series: Bali Medical Journal
• Subjects: female, karyotype, nonseminoma, sry gene, testicular cancer
• Online Access: https://balimedicaljournal.org/index.php/bmj/article/view/1380

<p><strong>Background:</strong> Testicular cancer is now the most common malignancy in young males. Markers available in the management of patients with testicular cancer are alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), and lactate dehydrogenase (LDH). Female patients with androgen insensitivity syndrome (AIS) and pure gonadal dysgenesis have a pure XY karyotype and an increased risk of developing a gonadal malignancy.</p><p><strong>Case Description:</strong> A 26-year-old female presented with a hardened stomach and primary amenorrhoea. Physical examination revealed Tanner Stage I for both the right and left breast and no pubic or axillary hair. On local examination, there was a large firm non-tender mass extending across the abdominopelvic region. Gynecological examinations revealed normal labia; however there was clitoromegaly, the vagina was blind (5 cm) with the absent cervix. Laboratory tests with increased abnormal results were as follows: LDH 3,448 U/L, AFP 1,842.6 ng/mL, Cortisol 22.41 ug/dL and Testosterone 128.7 ng/dL. An MSCT of the abdomen showed a solid mass with no signs of a vagina or uterus. Blood karyotyping results were 46 XY with the presence of the SRY gene. Due to an increase in LDH, AFP, Cortisol and Testosterone, with 46 XY karyotyping, Tanner stage 1 breasts, pubic and axillary hair, female genitalia phenotype and abdominal MSCT showing a solid mass with no signs of vagina and uterus, this patient was diagnosed with non seminoma testicular cancer with widespread disease and 46, XY karyotype (male).</p><strong>Conclusion:</strong> Testicular cancer is common in patients with gonadal dysgenesis, due to an increase in malignancy risk.