Complete Androgen Insensitivity Syndrome Presenting as Inguinal Hernia—a Diagnostic Dilemma

Abstract

Inguinal hernia is the most common type of groin hernia in females. In comparison, complete androgen insensitivity syndrome (CAIS) is a rare genetic disease that can present with an inguinal swelling containing testis in a female. We report a case of a 42-year-old phenotypic female who presented with swelling in the right inguinal region and primary amenorrhea. The swelling showed impulse on coughing, and working diagnosis of incarcerated hernia was made. Investigations revealed the absence of uterus, cervix, and fallopian tube with presence of right ovary in right inguinal canal and left ovary in intra-abdominal region. Chromosome analysis revealed XY karyotype, thereby confirming the diagnosis of CAIS. On exploration, firm testis-like structure was detected in the right inguinal canal, and gonadectomy with herniotomy was done. However, opposite side gonadectomy was refused by the patient. Histopathologically, excised mass showed atrophic testis with sertoli cell adenoma.

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References

  1. 1.

    Morris JM (1953) The syndrome of testicular feminization in male pseudohermaphrodites. Am J Obstet Gynecol 65:1192–1211

    CAS  Article  Google Scholar 

  2. 2.

    Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J (2012) Androgen insensitivity syndrome. Lancet 380:1419–1428

    CAS  Article  Google Scholar 

  3. 3.

    Boehmer AL, Brinkmann O, Brüggenwirth H et al (2001) Genotype versus phenotype in families with androgen insensitivity syndrome. J Clin Endocrinol Metabol 86:4151–4160

    CAS  Article  Google Scholar 

  4. 4.

    Gottlieb B, Beitel LK, Nadarajah A, Paliouras M, Trifiro M (2012) The androgen receptor gene mutations database (ARDB): 2012 update. Hum Mutat 33:887–894

    CAS  Article  Google Scholar 

  5. 5.

    Hughes IA, Deeb A (2006) Androgen resistance. Best Pract Res Clin Endocrinol Metabol 20:577–598

    CAS  Article  Google Scholar 

  6. 6.

    Grasso D, Borreggine C, Campanale C, Longo A, Grilli G, Macarini L (2015) Usefulness and role of magnetic resonance imaging in a case of complete androgen insensitivity syndrome. Radiol Case Rep 10:1119

    PubMed  Google Scholar 

  7. 7.

    Donahoe PK, Crawford JD, Hendren WH (1979) Mixed gonadal dysgenesis, pathogenesis, and management. J Pediatr Surg 14:287–300

    CAS  Article  Google Scholar 

  8. 8.

    Ismail Pratt IS, Bikoo M, Liao LM, Conway GS, Creighton SM (2007) Normalization of vagina by dilator treatment alone in complete androgen insensitivity syndrome & Mayer Rokitansky Kuster Hauser Syndrome. Hum Reprod 22:2020–2024

    Article  Google Scholar 

Download references

Acknowledgments

We thank Dr. Shivam Diwan for his support in patient management.

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Correspondence to Deepak Kumar Soni.

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Ram, M., Soni, D.K., Khan, S. et al. Complete Androgen Insensitivity Syndrome Presenting as Inguinal Hernia—a Diagnostic Dilemma. Indian J Surg (2020). https://doi.org/10.1007/s12262-020-02456-9

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Keywords

  • Complete androgen insensitivity syndrome
  • Inguinal hernia