Androgen insensitivity syndrome, a case report and literature review

Venkatreddy Malipatil, Pushpanjlai Malipatil, Chaitanya V. M.


A case of androgen insensitivity syndrome who presented with left labial mass and inguinal hernia was managed by surgery and counselling. The aim of this report is to present a rare case of androgen insensitivity syndrome, its cause, diagnosis and treatment along with review of literature and its management. Androgen insensitivity syndrome is a X linked disorder of male sexual differentiation caused by mutation affecting the androgen receptor gene Xq 11-12 resulting in decreased peripheral responsiveness to circulating androgens, with variable phenotypic expression. Over 300 mutations have been identical worldwide. A 8 year old girl presented to surgical outpatient department with pain in the left labial mass. She was investigated and operated. She was confirmed of having androgen insensitivity syndrome after testing for abdominal ultrasound, estimation of antimullerian hormone (AMH) levels, karyotyping and histopathological examination of labial mass. A literature search and update was made on the causes, clinical issues and management of androgen insensitivity syndrome (AIS).



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Chamberlain NL, Driver Ed, Miesfeld RL. The length and location of CAG trinucleotide repeats in the androgen receptor N terminal domain effect transactivation function. Nucliec acid Res. 1994;22:3181-6.

Robur D, Wolffe AP, Wahi W. nuclear hormone receptor co regulators in action; diversity for shared tasks. Mol endocrinol. 2000;14:329-47.

Mc kenna NJ, Lanz RB, O’Malley BW. nuclear receptor co regulators; cellular and molecular biology,Endocr Rev. 1999;20;321-44.

Misrahi M, Beau I, Meduri G, Bouvattier C, Atger M, Loosfelt H, et al. Gonadotropin receptor and the control of gonadal steroidogenesis: physiology and pathology.Bailliere’s cli endocrine metal. 1998;12(1):35-66.

Themmen APN, Huntarian IT. Mutation of gonadotropins and gonadotropin receptor ;elucidating the physiology and pathophysiology of pituitary gonadal function. Endocr Rev. 2000;21;551-383.

Gottilieb B, Beitel Lk, Wu JH, Trifiro M. the androgen receptor gene mutation data base ARDB;2004 update. Hum mutat. 2004;23;527-33.

Glou KS, Haffmann GF, Roth KS. Pediatric endocrinology and inborn errors of metabolism. Human sex differentiation and its abnormalities. Best pact Res cli obstet gyneacol. 2003;17;1-18.

Hannema SE, Scott IS, Rajpert-De Meyts E, Skakkebaek NE, Coleman N, Hughes IA. Testicular development in the CAIS. J. pathol. 2006;208(4):518-27.

Gottlieb B, Lehvaslaiho H, Beitel LK, Lumbroso R, Pinsky L, Trifiro M. The androgen receptor gene mutation database, nucliec acids Res 1998:26;234-8.

Jameson JL. hormone resistance syndrome contemporary endocrinology. Ttawa, NJ; human press.1999;14:1-281.

Rey RA, Belville C, Nihoul-Fékété C, Michel-Calemard L, Forest MG, Lahlou N, et al. evaluation of gonadal function in 107 intersex patients by means of AMH measurement, the journal of clinical endocrinology and metabolism. 1999;84(2):627-31.

Lane AH, Donahue P K. New insights into mullerain inhibiting substance and its mechanism of action. J endocrinol. 1998;158(1):1-6.

Josso N, Picard JY, Imbeaud S, di Clemente N, Rey R. clinical aspects and molecular genetics of the persistent malarian duct syndrome, cli endocrinol. 1997;47(2):137-44.

Belville C, Josso N, Picard JY. persistance of mullerian ducts in males. Am j hum genet. 1999;89;218-224.

Meyts ER, Jorgensen N, Neils gram et al. expression of AMH during normal and pathological gonadal development: association with differentiation of stroll and granolas cells.The journal of clinical endocrinology and metabolism. 2013;84(10).

Rey R, Mebarki F, Forest MG, Mowszowicz I, Cate RL, Morel Y, et al. antimullarain hormone in children with androgen insensitivity. J cli endocrinol metal. 1994;79:960-4.

Wisniewski AB, Migeon CJ, Meyer-Bahlburg HF, Gearhart JP, Berkovitz GD, Brown TR, et al, complete androgen insesnsitivity syndrome; long term medical, surgical and psychosexualoutcome, journal of clinical endocrinology and metabolism. 2000;85(8):2664-9.

Cheikhelard A, Morel Y, Thibaud E, Lortat-Jacob S, Jaubert F, Polak M, et al. Long term follow up and comparison between genotypic and phenotype in 29 cases of CAIS. The journal of urology. 2008;180(4);1496-1501.