Prophylactic gonadectomy in 46 XY females; why, where and when?

Nurul Iftida Basri; Chong Hong Soon; Anizah Ali; Nur Azurah Abdul Ghani; Ani Amelia Zainuddin

doi:10.1515/hmbci-2021-0001

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Prophylactic gonadectomy in 46 XY females; why, where and when?

Nurul Iftida Basri , Chong Hong Soon , Anizah Ali , Nur Azurah Abdul Ghani and Ani Amelia Zainuddin

Published/Copyright: March 8, 2021

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From the journal Hormone Molecular Biology and Clinical Investigation Volume 42 Issue 3

Abstract

Objectives

We compared cases of phenotypic female patients who presented with male karyotype and underwent prophylactic gonadectomy.

Case presentation

Five patients with female phenotypes presented in early adulthood with primary amenorrhoea with varying degrees of puberty. One was tall with breast development. Another was very short with clitoromegaly and multiple co-morbidities. The other three had no secondary sexual characteristics. They were examined, after which hormonal profile, karyotyping, ultrasound examination and magnetic resonance imaging were done to assess the site of gonads. Gonadectomy was performed once their 46 XY karyotype was confirmed. Results of histopathological examination of their gonads ranged from dysgenetic gonads to having testicular tissues and malignancy.

Conclusion

Female patients with 46 XY karyotypes require prophylactic gonadectomy performed at different timings depending on diagnosis due to the malignancy risk. Pre-operative assessment is essential to locate the gonads prior to surgery.

Keywords: androgen insensitivity syndrome; disorder of sexual development (DSD); gonadal dysgenesis; gonadectomy; 46 XY female

Corresponding author: Nurul Iftida Basri, Department of Obstetrics and Gynecology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, UPM Teaching Hospital, Serdang, Selangor, Malaysia, E-mail: nurul.iftida@upm.edu.my

Acknowledgements

Not applicable.

Research funding: None declared.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: All patients gave an informed consent and waived their rights for publication of images.
Ethical approval: The local Institutional Review Board deemed the study exempt from review.

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Received: 2021-01-04

Accepted: 2021-02-18

Published Online: 2021-03-08

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Articles in the same Issue

https://doi.org/10.1515/hmbci-2021-0001

Keywords for this article

androgen insensitivity syndrome; disorder of sexual development (DSD); gonadal dysgenesis; gonadectomy; 46 XY female