Abstract
We present the case of a patient with female sex assignment at birth whose parents consulted with a pediatrician when the child was 12 years old, indicating that despite female sex assignment, she felt that she (henceforth “he”) had a male gender identity and was gynephilic. Medical examination revealed a 46XY karyotype, a primary amenorrhea and an appropriate testosterone increase after HCG stimulation test. The patient was diagnosed then with a 46,XY disorder of sex development with androgen insensitivity syndrome, but then he missed subsequent appointments. At the age of 24, he resumed medical follow-up to reaffirm his male gender identity through sex reassignment surgery. His physical examination showed a Tanner stage III-IV breast development, vulva, clitoris, normal-sized vagina, absence of uterus and ovaries on transvaginal ultrasound, bilateral cryptorchidism on abdominal-pelvic MRI and osteoporosis on bone densitometry. The results of the blood tests were LH 24.5 mIU/mL [normal range, 1.7–8.6 mIU/mL for men] and testosterone 8.8 nmol/L [8.7–33 nmol/L]; conversely, FSH, estradiol, progesterone, and prolactin levels were normal. The molecular genetic analysis revealed an androgen receptor gene mutation associated with complete androgen insensitivity syndrome. At present, the patient has undergone bilateral orchiectomy and has initiated treatment with topical testosterone and bisphosphonates. We have yet to evaluate the effects and decide the best therapy taking into account that he has a male gender identity but complete androgen insensitivity syndrome.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
American Psychiatric Association. (2000). Diagnostic and statistical manual of mental disorders (4th ed., text rev.). Author. https://doi:https://doi.org/10.1176/appi.books.9780890423349.
American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). American Psychiatric Press. https://doi.org/10.1176/appi.books.9780890425596
Cools, M., Wolffenbuttel, K. P., Hersmus, R., Mendonca, B. B., Kaprová, J., Drop, S., Stoop, H., Gillis, A., Oosterhuis, J. W., Costa, E., Domenice, S., Nishi, M. Y., Wunsch, L., Quigley, C. A., T’Sjoen, G., & Looijenga, L. (2017). Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: Prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling. Human Reproduction, 32(12), 2561–2573. https://doi.org/10.1093/humrep/dex300
Gottlieb, B., & Trifiro, M. A. (1999). Androgen insensitivity syndrome. In M. P. Adam, et al. (Eds.), GeneReviews®. University of Washington, Seattle.
Jorgensen, P. B., Kjartansdóttir, K. R., & Fedder, J. (2010). Care of women with XY karyotype: A clinical practice guideline. Fertility and Sterility, 94(1), 105–113. https://doi.org/10.1016/j.fertnstert.2009.02.087
Kulshreshtha, B., Philibert, P., Eunice, M., Khandelwal, S. K., Mehta, M., Audran, F., Paris, F., Sultan, C., & Ammini, A. C. (2009). Apparent male gender identity in a patient with complete androgen insensitivity syndrome. Archives of Sexual Behavior, 38(6), 873–875. https://doi.org/10.1007/s10508-009-9526-2
Lapid, O., van Wingerden, J., & Perlemuter, L. (2013). Tamoxifen therapy for the management of pubertal gynecomastia: A systematic review. Journal of Pediatric Endocrinology & Metabolism, 26(9–10), 803–807. https://doi.org/10.1515/jpem-2013-0052
León, N. Y., Reyes, A. P., & Harley, V. R. (2019). A clinical algorithm to diagnose differences of sex development. The Lancet. Diabetes & Endocrinology, 7(7), 560–574. https://doi.org/10.1016/S2213-8587(18)30339-5
Mazur, T. (2005). Gender dysphoria and gender change in androgen insensitivity or micropenis. Archives of Sexual Behavior, 34(4), 411–421. https://doi.org/10.1007/s10508-005-4341-x
Meyer-Bahlburg, H. F. (2009). Concerns regarding gender change to male in a 46,XY child with complete androgen insensitivity syndrome: Comment on Kulshreshtha,et al. (2009). Archives of Sexual Behavior, 38(6), 876–877.
Meyer-Bahlburg, H. F. (2010). Gender outcome in 46,XY complete androgen insensitivity syndrome: Comment on T’Sjoen et al. (2010). Archives of Sexual Behavior, 39(6), 1221–1224.
Nakhal, R. S., Hall-Craggs, M., Freeman, A., Kirkham, A., Conway, G. S., Arora, R., Woodhouse, C. R., Wood, D. N., & Creighton, S. M. (2013). Evaluation of retained testes in adolescent girls and women with complete androgen insensitivity syndrome. Radiology, 268(1), 153–160. https://doi.org/10.1148/radiol.13121068
Ong, Y. C., Wong, H. B., Adaikan, G., & Yong, E. L. (1999). Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation. Lancet, 354(9188), 1444–1445. https://doi.org/10.1016/s0140-6736(99)03205-5
Patel, V., Casey, R. K., & Gomez-Lobo, V. (2016). Timing of gonadectomy in patients with complete androgen insensitivity syndrome-current recommendations and future directions. Journal of Pediatric and Adolescent Gynecology, 29(4), 320–325. https://doi.org/10.1016/j.jpag.2015.03.011
Purves, J. T., Miles-Thomas, J., Migeon, C., & Gearhart, J. P. (2008). Complete androgen insensitivity: The role of the surgeon. Journal of Urology, 180(4 Suppl), 1716–1719. https://doi.org/10.1016/j.juro.2008.03.110
Saito, R., Yamamoto, Y., Goto, M., Araki, S., Kubo, K., Kawagoe, R., Kawada, Y., Kusuhara, K., Igarashi, M., & Fukami, M. (2014). Tamoxifen treatment for pubertal gynecomastia in two siblings with partial androgen insensitivity syndrome. Hormone Research in Paediatrics, 81(3), 211–216. https://doi.org/10.1159/000356923
T’Sjoen, G., De Cuypere, G., Monstrey, S., Hoebeke, P., Freedman, F. K., Appari, M., Holterhus, P. M., Van Borsel, J., & Cools, M. (2011). Male gender identity in complete androgen insensitivity syndrome. Archives of Sexual Behavior, 40(3), 635–638. https://doi.org/10.1007/s10508-010-9624-1
Viani, G. A., Bernardes da Silva, L. G., & Stefano, E. J. (2012). Prevention of gynecomastia and breast pain caused by androgen deprivation therapy in prostate cancer: Tamoxifen or radiotherapy? International Journal of Radiation Oncology, Biology, Physics, 83(4), e519–e524. https://doi.org/10.1016/j.ijrobp.2012.01.036
Warne, G. L., Grover, S., & Zajac, J. D. (2005). Hormonal therapies for individuals with intersex conditions: Protocol for use. Treatments in Endocrinology, 4(1), 19–29. https://doi.org/10.2165/00024677-200504010-00003
Funding
This study was not funded.
Author information
Authors and Affiliations
Contributions
All authors contributed to the study’s conception and design. The first draft of the manuscript was written by Del Can-Sánchez, and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.
Corresponding author
Ethics declarations
Conflict of interest
The authors declare that they have no conflict of interest.
Ethical Approval and Informed Consent
The protocols of the Ethics Committe of the hospital were followed. A written informed consent was obtained from the patient prior to publication. She consents to the use of her information for the purposes of this case report.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Del Can Sánchez, D.J., Dueñas Disotuar, S., Piñar Gutiérrez, A. et al. Gender Incongruity in a Person with 46,XY and Complete Androgen Insensitivity Syndrome Raised as a Female. Arch Sex Behav 51, 2353–2357 (2022). https://doi.org/10.1007/s10508-021-02183-6
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10508-021-02183-6