Complete Androgen Insensitivity Syndrome in a 13-year-old Lebanese Child, Reared As Female, with Bilateral Inguinal Hernia: a Case Report

Overview

Journal J Med Case Rep

Publisher Biomed Central

Specialty General Medicine

Date 2021 Apr 17

PMID 33863387

Citations 1

Authors

Stephanie Farah

Dana El Masri

Kamal Hirbli

Affiliations

Soon will be listed here.

Abstract

Background: Androgen insensitivity syndrome is a rare X-linked disorder of sex development, caused by mutations in the androgen receptor. In this case, a 13-year-old child, reared as female, presenting for primary amenorrhea, was diagnosed with complete androgen insensitivity syndrome.

Case Presentation: A 13-year-old Caucasian child, reared as female, presents with primary amenorrhea. Physical examination revealed female appearance and a short vagina with blind-ended pouch. Laboratory examination showed high levels of testosterone and anti-Müllerian hormone; uterus and ovaries were absent. Karyotype confirmed a 46,XY pattern. Deoxyribonucleic acid analysis of the androgen receptor gene revealed a homozygous mutation p.R856C in exon 7. Gender was assigned as female, and she was started on hormonal therapy and underwent gonadectomy.

Conclusion: Androgen insensitivity syndrome comprises a large spectrum of presentations. High index of suspicion is needed. Investigation of girls with bilateral inguinal hernia is critical.

Citing Articles

Case report: Identification of a frameshift mutation in GC enrichment and the GCC repeat region of the androgen insensitivity receptor (AR) gene in a patient with complete androgen insensitivity syndrome by whole-exome sequencing (WES) combined with....

He X, Ma Q, Zhang Q, Hong X, Qi M, Li Y Front Genet. 2022; 13:1038997.

PMID: 36506311 PMC: 9732716. DOI: 10.3389/fgene.2022.1038997.

References

Hellmann P, Christiansen P, Holm Johannsen T, Main K, Duno M, Juul A . Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia. Arch Dis Child. 2012; 97(5):403-9. DOI: 10.1136/archdischild-2011-300584. View

Turek-Plewa J, Eckersdorf-Mastalerz A, Kaluzewski B, Helszer Z, Trzeciak W . A mutation c.C2812T in the androgen receptor gene resulting in Pro817Leu substitution may affect dimerization of the androgen receptor and result in androgen insensitivity syndrome. Fertil Steril. 2006; 85(6):1822.e1-4. DOI: 10.1016/j.fertnstert.2005.11.063. View

Gottlieb B, Beitel L, Wu J, Trifiro M . The androgen receptor gene mutations database (ARDB): 2004 update. Hum Mutat. 2004; 23(6):527-33. DOI: 10.1002/humu.20044. View

McPhaul M, Marcelli M, Zoppi S, Wilson C, GRIFFIN J, Wilson J . Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. J Clin Invest. 1992; 90(5):2097-101. PMC: 443277. DOI: 10.1172/JCI116093. View

Oakes M, Eyvazzadeh A, Quint E, Smith Y . Complete androgen insensitivity syndrome--a review. J Pediatr Adolesc Gynecol. 2008; 21(6):305-10. DOI: 10.1016/j.jpag.2007.09.006. View

Quigley C, De Bellis A, Marschke K, El-Awady M, Wilson E, French F . Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev. 1995; 16(3):271-321. DOI: 10.1210/edrv-16-3-271. View

Deeb A, Hughes I . Inguinal hernia in female infants: a cue to check the sex chromosomes?. BJU Int. 2005; 96(3):401-3. DOI: 10.1111/j.1464-410X.2005.05639.x. View

Brinkmann A . Molecular basis of androgen insensitivity. Mol Cell Endocrinol. 2001; 179(1-2):105-9. DOI: 10.1016/s0303-7207(01)00466-x. View

Gans S, RUBIN C . Apparent female infants with hernias and testes. Am J Dis Child. 1962; 104:82-6. DOI: 10.1001/archpedi.1962.02080030084012. View

10.

Wiesemann C, Ude-Koeller S, Sinnecker G, Thyen U . Ethical principles and recommendations for the medical management of differences of sex development (DSD)/intersex in children and adolescents. Eur J Pediatr. 2009; 169(6):671-9. PMC: 2859219. DOI: 10.1007/s00431-009-1086-x. View

11.

Konar S, Dasgupta D, Patra D, De A, Mallick B . Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome. J Clin Diagn Res. 2015; 9(4):GD01-3. PMC: 4437084. DOI: 10.7860/JCDR/2015/11411.5750. View

12.

Mongan N, Tadokoro-Cuccaro R, Bunch T, Hughes I . Androgen insensitivity syndrome. Best Pract Res Clin Endocrinol Metab. 2015; 29(4):569-80. DOI: 10.1016/j.beem.2015.04.005. View

13.

Hurt W, Bodurtha J, MCCALL J, Ali M . Seminoma in pubertal patient with androgen insensitivity syndrome. Am J Obstet Gynecol. 1989; 161(3):530-1. DOI: 10.1016/0002-9378(89)90350-5. View

14.

De Bellis A, Quigley C, Cariello N, El-Awady M, Sar M, Lane M . Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique. Mol Endocrinol. 1992; 6(11):1909-20. DOI: 10.1210/mend.6.11.1480178. View

15.

Hughes I, Deeb A . Androgen resistance. Best Pract Res Clin Endocrinol Metab. 2006; 20(4):577-98. DOI: 10.1016/j.beem.2006.11.003. View

16.

Hurme T, Lahdes-Vasama T, Makela E, Iber T, Toppari J . Clinical findings in prepubertal girls with inguinal hernia with special reference to the diagnosis of androgen insensitivity syndrome. Scand J Urol Nephrol. 2008; 43(1):42-6. DOI: 10.1080/00365590802299247. View

17.

Jorgensen P, Kjartansdottir K, Fedder J . Care of women with XY karyotype: a clinical practice guideline. Fertil Steril. 2009; 94(1):105-13. DOI: 10.1016/j.fertnstert.2009.02.087. View

18.

Cools M, Nordenstrom A, Robeva R, Hall J, Westerveld P, Fluck C . Caring for individuals with a difference of sex development (DSD): a Consensus Statement. Nat Rev Endocrinol. 2018; 14(7):415-429. PMC: 7136158. DOI: 10.1038/s41574-018-0010-8. View

19.

Solari A, Groisman B, Bidondo M, Cinca C, Alba L . [Complete androgen insensitivity syndrome: diagnosis and clinical characteristics]. Arch Argent Pediatr. 2008; 106(3):265-8. DOI: 10.1590/S0325-00752008000300014. View

20.

GOLDSTEIN I, POTTS W . Inguinal hernia in female infants and children. Ann Surg. 1958; 148(5):819-22. PMC: 1450887. DOI: 10.1097/00000658-195811000-00013. View