A case of partial androgen insensitivity syndrome with undescended testis and clitoromegaly

Authors

  • Dixit Varma Department of Radiology, Fakhruddin Ali Ahmed Medical College and Hospital, Barpeta, Assam, India https://orcid.org/0000-0002-8301-2327
  • Sangita Mahela Department of Radiology, Fakhruddin Ali Ahmed Medical College and Hospital, Barpeta, Assam, India
  • Ibrahim Khalil Ullah Department of Radiology, Fakhruddin Ali Ahmed Medical College and Hospital, Barpeta, Assam, India
  • Sharath C. Mouli Department of Radiology, Fakhruddin Ali Ahmed Medical College and Hospital, Barpeta, Assam, India
  • Kritika Sharma Department of Radiology, Fakhruddin Ali Ahmed Medical College and Hospital, Barpeta, Assam, India
  • Gaurav Singh Department of Radiology, Fakhruddin Ali Ahmed Medical College and Hospital, Barpeta, Assam, India
  • Nirupam K. Baishya Department of Radiology, Fakhruddin Ali Ahmed Medical College and Hospital, Barpeta, Assam, India
  • Jyotishmita Pathak Department of Radiology, Fakhruddin Ali Ahmed Medical College and Hospital, Barpeta, Assam, Indial

DOI:

https://doi.org/10.18203/2320-1770.ijrcog20231250

Keywords:

Androgen insensitivity syndrome, Disorder of sexual development, Management

Abstract

Androgen insensitivity syndrome is a rare disorder of sex development that results from genetic mutations affecting the androgen receptor. Recently, we encountered a case of a 13-year-old individual who had been raised as female and sought medical attention for primary amenorrhea, which led to the discovery of partial androgen insensitivity syndrome. Early detection and gonad removal are necessary to mitigate the risk of cancer. Additional management steps such as corrective surgery and psychological support can also be valuable.

References

Hong Y. Complete Androgen Insensitivity Syndrome: A Rare Case with 47, XXY/46, XY Mosaic Karyotype and Literature Review. Obstetric Gynaecol Cases-Rev. 2022;9(4):227.

Eisermann K, Wang D, Jing Y, Pascal LE, Wang Z. Androgen receptor gene mutation, rearrangement, polymorphism. Transl Androl Urol. 2013;2(3):137-47.

Farah S, El Masri D, Hirbli K. Complete androgen insensitivity syndrome in a 13-year-old Lebanese child, reared as female, with bilateral inguinal hernia: a case report. J Med Case Rep. 2021;15:202.

Gottlieb B, Trifiro MA. Androgen Insensitivity Syndrome. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ. editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1429/. Accessed on 4 March, 2023.

Fiaschetti V, Greco L, Giuricin V, De Vivo D, Di Caprera E, Di Trapano R et al. Zinner syndrome diagnosed by magnetic resonance imaging and computed tomography: role of imaging to identify and evaluate the uncommon variation in development of the male genital tract. Radiol Case Rep. 2016;12(1):54-8.

Lund A, Juvonen V, Lähdetie J, Aittomäki K, Tapanainen JS, Savontaus ML. A novel sequence variation in the transactivation regulating domain of the androgen receptor in two infertile Finnish men. Fertil Steril. 2003;79(3):1647-8.

Bangsbøll S, Qvist I, Lebech PE, Lewinsky M. Testicular feminization syndrome and associated gonadal tumors in Denmark. Acta Obstet Gynecol Scand. 1992;71(1):63-6.

Makiyan Z. Studies of gonadal sex differentiation. Organogenesis. 201;12(1):42-51.

Patel N, Zafar Gondal A. Embryology, Mullerian-inhibiting Factor. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2022. Available at: http://www.ncbi.nlm.nih.gov/books/NBK544351/. Accessed on 4 March, 2023.

Caring for individuals with a difference of sex development (DSD): a Consensus Statement. Nature Reviews Endocrinology. Available at: https://www.nature.com/articles/s41574-018-0010-8. Accessed on 4 March, 2023.

Ethical principles and recommendations for the medical management of differences of sex development (DSD)/intersex in children and adolescents. SpringerLink. Available at: https://link.springer.com/article/10.1007/s00431-009-1086-x. Accessed on 4 March, 2023.

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Published

2023-04-28

Issue

Section

Case Reports