Type of Article:  Case Study

Volume 6; Issue 3.2 (August 2018)

Page No.: 5564-5567

DOI: https://dx.doi.org/10.16965/ijar.2018.282


Sarah Ramamurthy *1, Aravindhan Karuppusamy 2.

*1 Assistant Professor, Department of Anatomy, Pondicherry Institute of Medical Sciences, Kalapet, Pondicherry, India.

2 Additional Professor and Head, Department of Anatomy, JIPMER, Pondicherry, India.

Corresponding author: Dr Sarah Ramamurthy, Assistant Professor, Department of Anatomy, Pondicherry Institute of Medical Sciences, Kalapet, Pondicherry, India. Phone:9962267560 E-Mail: drsarahsenthilkumar@gmail.com


Androgen insensitivity syndrome (AIS), is a X-linked disorder characterized by resistance to androgen caused by mutation of androgen receptor gene in which XY karyotype individuals exhibit female phenotype.

AIS is characterised by evidence of feminization (under masculinization) of the external genitalia at birth, abnormal secondary sexual development at puberty, and infertility in individuals with 46 XY karyotype.

We are presenting here a familial case of complete androgen insensitivity syndrome in south Indian Population. 46 XY karyotype was found in two subjects who were cousin sisters with female phenotype,who presented with primary amenorrhoea. Comet assay was done, which showed results comparable with normal males. In both girls’ inguinal gonads was present which was removed and hormonal therapy with estrogen was given to prevent osteoporosis. Androgen insensitivity syndrome can be inherited as an X linked disorder as evidenced by previous studies.

Key words: testicular feminization syndrome, Androgen Receptor Deficiency, Primary amennorrhea, Comet assay, CAIS, Familial CAIS.


  1. Hughes IA, Deeb A. Androgen resistance. Best practice & research Clinical endocrinology & metabolism. 2006;20(4):577-98.
  2. Galani A, Kitsiou-Tzeli S, Sofokleous C, Kanavakis E, Kalpini-Mavrou A. Androgen insensitivity syndrome: clinical features and molecular defects. Hormones (Athens, Greece). 2008;7(3):217-29.
  3. Gottlieb B, Trifiro MA. Androgen Insensitivity Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, et al., editors. GeneReviews(R). Seattle (WA): University of Washington, Seattle University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.; 1993.
  4. Petroli R, Guerra A, Soardi F, Calais F, Guerra-Júnior G, Mello M. Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family2011. 173 p.
  5. Meduri G, Touraine P, Beau I, Lahuna O, Desroches A, Vacher-Lavenu MC, et al. Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies. J Clin Endocrinol Metab. 2003;88(8):3491-8.
  6. Röpke A, Pelz A-F, Volleth M, Schlößer H-W, Morlot S, Wieacker PF. Sex chromosomal mosaicism in the gonads of patients with gonadal dysgenesis, but normal female or male karyotypes in lymphocytes. American Journal of Obstetrics and Gynecology. 2004;190(4):1059-62.
  7. Paris F, Philibert P, Lumbroso S, Baldet P, Charvet JP, Galifer RB, et al. Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation. Fertil Steril. 2007;88(5):1437.e21-5.
  8. Sultan C, Lumbroso S, Poujol N, Belon C, Boudon C, Lobaccaro J-M. Mutations of androgen receptor gene in androgen insensitivity syndromes. The Journal of Steroid Biochemistry and Molecular Biology. 1993;46(5):519-30.
  9. Nandhakumar S, Parasuraman S, Shanmugam MM, Rao KR, Chand P, Bhat BV. Evaluation of DNA damage using single-cell gel electrophoresis (Comet Assay). Journal of Pharmacology & Pharmacotherapeutics. 2011;2(2):107-11.
  10. Ramamurthy S, Chand P, Chaturvedula L, Rao KR. Deoxyribonucleic acid damage study in primary amenorrhea by comet assay and karyotyping. Indian Journal of Human Genetics. 2013;19(4):397-402.
  11. Brinkmann A, Jenster G, Ris-Stalpers C, van der Korput H, Brüggenwirth H, Boehmer A, et al. Molecular basis of androgen insensitivity. Steroids. 1996;61(4):172-5.
  12. karimian n, Ghadakzadeh S, Eshraghi M. Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis and a hypoplastic uterus: A rare presentation2009. 267.e13-4 p.
  13. Cools M, Drop SL, Wolffenbuttel KP, Oosterhuis JW, Looijenga LH. Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers. Endocrine reviews. 2006;27(5):468-84.
  14. Deeb A, Hughes IA. Inguinal hernia in female infants: a cue to check the sex chromosomes? BJU International. 2005;96(3):401-3.
  15. Cull ML, Simmonds M. Importance of support groups for intersex (disorders of sex development) patients, families and the medical profession. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. 2010;4(4-5):310-2.
  16. Oakes MB, Eyvazzadeh AD, Quint E, Smith YR. Complete androgen insensitivity syndrome–a review. Journal of pediatric and adolescent gynecology. 2008;21(6):305-10.
  17. Boehmer AL, Brinkmann O, Bruggenwirth H, van Assendelft C, Otten BJ, Verleun-Mooijman MC, et al. Genotype versus phenotype in families with androgen insensitivity syndrome. J Clin Endocrinol Metab. 2001;86(9):4151-60. 

Cite this article: Sarah Ramamurthy, Aravindhan Karuppusamy. ANDROGEN INSENSITIVITY SYNDROME AMONG COUSIN SISTERS- A RARE ENTITY. Int J Anat Res 2018;6(3.2):5564-5567. DOI: 10.16965/ijar.2018.282