Seminiferous Tubules in a Phenotypic Female: An Incidental Autopsy Diagnosis of Complete Androgen Insensitivity Syndrome
Keywords:
Complete androgen insensitivity syndrome, Androgen receptor defect, Primary amenorrhea, Intra-abdominal gonads, Medico-legal AutopsyAbstract
Complete Androgen Insensitivity Syndrome (CAIS) is a rare X-linked recessive disorder in which individuals with a 46,XY karyotype present as phenotypic females due to complete failure of androgen receptor function.3 Most cases are identified during adolescence when primary amenorrhea is investigated; however, incidental detection during autopsy is exceptionally uncommon.1-4 We report an unexpected autopsy diagnosis of CAIS in a 35-year-old phenotypic female brought for medico-legal examination following homicidal neck injury. During internal dissection, the presence of bilateral intra-abdominal gonads prompted histopathological evaluation. Microscopy revealed completely hyalinized seminiferous tubules with absent germ cells and maturation arrest, consistent with testicular tissue.2 Retrospective correlation uncovered a lifelong history of primary amenorrhea, normal breast development, sparse axillary and pubic hair, and absence of uterus—classical but previously unrecognized features of CAIS.3 This case highlights how autopsy can uncover underlying disorders of sex development that may remain undiagnosed throughout life, especially in resource-limited settings.1-4
References
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2. Melo KF, Mendonca BB, Billerbeck AE, Costa EM, Inacio M, Silva FA. Histopathology of gonads in androgen insensitivity syndrome. J Clin Endocrinol Metab. 2003;88(7):324–30.
3. Hughes IA, Davies JD, Bunch T, Pasterski V, Mastroyannopoulou K, MacDougall J. Androgen insensitivity syndrome. Lancet. 2012;380:1419–28.
4. Nigam M, Murty OP. Medico-legal importance of intersex variants in autopsy practice. J Indian Acad Forensic Med. 2011;33(3):240–243.
