From Ambiguity to Identity: A Case Report of XY Disorders of Sexual Development with Suspected Mayer-Rokitansky-Küster-Hauser and Androgen Insensitivity Syndrome
International Journal of Medical Toxicology and Forensic Medicine,
Vol. 15 No. 03 (2025),
22 September 2025
,
Page 1-5
https://doi.org/10.22037/ijmtfm.v15i03.49728
Abstract
Background: Disorders of Sex Development (DSD) encompass a range of congenital conditions involving discordance between chromosomal, gonadal, and phenotypic sex. One complex presentation involves phenotypically female individuals with a 46, XY karyotype, raising differential diagnoses such as Complete Androgen Insensitivity Syndrome (CAIS), Swyer syndrome, and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
Case Presentation: A 22-year-old individual raised as female presented with primary amenorrhea. Physical examination showed Tanner stage 3 breast and pubic hair, absent vaginal introitus, and no palpable uterus. Pelvic MRI revealed agenesis of the uterus, cervix, and upper vagina, with bilateral intrapelvic gonads initially resembling ovaries. Hormonal tests showed elevated testosterone (88.67 nmol/L), high LH (30.8 mIU/mL), and low-normal estradiol (23.6 pg/mL). Karyotyping confirmed 46, XY. Despite initial imaging suggesting MRKH, the hormonal and chromosomal findings supported CAIS. Multidisciplinary assessments, including psychiatry and forensic medicine, affirmed a consistent female gender identity. The patient declined surgical intervention and was referred for long-term follow-up.
Conclusion: This case highlights the importance of integrating clinical, hormonal, radiologic, and genetic data to distinguish among 46, XY DSD etiologies. Accurate diagnosis is essential not only for guiding medical management but also for supporting gender identity and psychological well-being. In CAIS, gender-affirming, individualized care and long-term support are crucial for optimal health outcomes.
- Disorder of Sex Development
- 46,XY DSD
- Complete Androgen Insensitivity Syndrome
- Primary Amenorrhea
- Gender Identity
How to Cite
References
Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus Statement on Management of Intersex Disorders. Pediatrics. 2006;118(2):e488–500. [DOI: 10.1542/peds.2006-0738]
Pasterski V, Prentice P, Hughes IA. Consequences of the Chicago consensus on disorders of sex development (DSD): current practices in Europe. Arch Dis Child. 2010;95(8):618–23. [DOI: 10.1136/adc.2009.163840]
Palui R, Ravichandran L, Kamalanathan S, Chapla A, Sahoo J, Narayanan N, et al. Clinical, Hormonal, and Genetic Spectrum of 46 XY Disorders of Sexual Development (DSD) Patients. Indian J Pediatr. 2025;92(8):836–43. [DOI: 10.1007/s12098 024 05144 8]
Herlin MK, Petersen MB, Brännström M. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update. Orphanet J Rare Dis. 2020;15(1):214. [DOI: 10.1186/s13023-020-01491-9]
Herlin M, Bjørn AMB, Rasmussen M, Trolle B, Petersen MB. Prevalence and patient characteristics of Mayer–Rokitansky–Küster–Hauser syndrome: a nationwide registry-based study. Human Reproduction. 2016;31(10):2384–90. [DOI: 10.1093/humrep/dew220]
Cools M, Looijenga LHJ, Wolffenbuttel KP, Drop SLS. Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors. World Journal of Pediatrics. 2009;5(2):93–102. [DOI: 10.1007/s12519 009 0020 7]
Kolesinska Z, Ahmed SF, Niedziela M, Bryce J, Molinska-Glura M, Rodie M, et al. Changes Over Time in Sex Assignment for Disorders of Sex Development. Pediatrics. 2014;134(3):e710–5. [DOI: 10.1542/peds.2014 1088]
Delli Paoli E, Di Chiano S, Paoli D, Lenzi A, Lombardo F, Pallotti F. Androgen insensitivity syndrome: a review. J Endocrinol Invest. 2023;46(11):2237–45. [DOI: 10.1007/s40618 023 02127 y]
Singh S, Ilyayeva S. Androgen Insensitivity Syndrome. StatPearls [Internet]. 2023 February 28 [cited 2025 August 8]; Available from: https://www.ncbi.nlm.nih.gov/books/NBK542206/
Fontana L, Gentilin B, Fedele L, Gervasini C, Miozzo M. Genetics of Mayer–Rokitansky–Küster–Hauser ( MRKH ) syndrome. Clin Genet. 2017;91(2):233–46. [DOI: 10.1111/cge.12883]
Eapen A, Chandramohan A, Simon B, Putta T, John R, Kekre A. Imaging Evaluation of Disorders of Sex Development. Journal of Gastrointestinal and Abdominal Radiology. 2020;03(02):181–92. [DOI: 10.1055/s 0039 3402101]
Al Jurayyan NA, Al-Jurayyan RNA, Mohamed SH, Babiker AMI, Al Otaibi HMN. Radiological imaging of disorders of sex development (DSD). Sudan J Paediatr [Internet]. 2013;13(2):10. [Link]
Rey RA, Grinspon RP. Anti-Müllerian hormone, testicular descent and cryptorchidism. Front Endocrinol (Lausanne) [Internet]. 2024;15:1361032. [DOI: 10.3389/fendo.2024.1361032]
Cools M, Nordenström A, Robeva R, Hall J, Westerveld P, Flück C, et al. Caring for individuals with a difference of sex development (DSD): a Consensus Statement. Nat Rev Endocrinol. 2018;14(7):415–29. [DOI: 10.1038/s41574 018 0010 8]
Barros BA, De Oliveira LR, Surur CRC, Barros-Filho ADA, Maciel-Guerra AT, Guerra-Junior G. Complete androgen insensitivity syndrome and risk of gonadal malignancy: systematic review. Ann Pediatr Endocrinol Metab [Internet].;26(1):19. [DOI: 10.6065/apem.2040170.085]
Kristesashvili J, Kobaladze L, Chipashvili M, Jibladze A. Sex assignment and psychosexual peculiarities of individuals with different forms of androgen insensitivity syndrome: A qualitative study. International Journal of Reproductive BioMedicine (IJRM). 2024;21(12):985–94. [DOI: 10.18502/ijrm.v21i12.15036]
Yang JH, Baskin LS, DiSandro M. Gender Identity in Disorders of Sex Development: Review Article. Urology. 2010;75(1):153–9. [DOI: 10.1016/j.urology.2009.07.1286]
Robet R, Ciptaningrum A, Fitri MR. Justice, intersexuals and epistemic authority in Indonesia. Cogent Soc Sci. 2024;10(1). [DOI: 10.1080/23311886.2024.2416099]
- Abstract Viewed: 280 times
- PDF Downloaded: 48 times