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Gynecological Endocrinology

Androgen insensitivity syndrome

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Pages 1-5 | Received 31 Jan 2012, Accepted 23 May 2012, Published online: 20 Jul 2012

References

  • Morris JM. The syndrome of testicular feminization in male pseudohermaphrodites. Am J Obstet Gynecol 1953;65:1192–1211.
  • Brown CJ, Goss SJ, Lubahn DB, Joseph DR, Wilson EM, French FS, Willard HF. Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism. Am J Hum Genet 1989;44:264–269.
  • Ahmed SF, Cheng A, Dovey L, Hawkins JR, Martin H, Rowland J, Shimura N, et al. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J Clin Endocrinol Metab 2000;85:658–665.
  • Prevalence of rare diseases. Bibliographic data. [http://www.orpha.net/consor/cgi-bin/Education_Home.php?lng=EN]
  • Papadimitriou DT, Linglart A, Morel Y, Chaussain JL. Puberty in subjects with complete androgen insensitivity syndrome. Horm Res 2006;65:126–131.
  • Boehmer AL, Brinkmann O, Brüggenwirth H, van Assendelft C, Otten BJ, Verleun-Mooijman MC, Niermeijer MF, et al. Genotype versus phenotype in families with androgen insensitivity syndrome. J Clin Endocrinol Metab 2001;86:4151–4160.
  • Hannema SE, Scott IS, Hodapp J, Martin H, Coleman N, Schwabe JW, Hughes IA. Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndrome. J Clin Endocrinol Metab 2004;89:5815–5822.
  • Rutgers JL, Scully RE. The androgen insensitivity syndrome (testicular feminization): a clinicopathological study of 43 cases. Int J Gynecol Pathol 1991; 10:26–144.
  • Ferlin A, Vinanzi C, Garolla A, Selice R, Zuccarello D, Cazzadore C, Foresta C. Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations. Clin Endocrinol (Oxf) 2006;65:606–610.
  • Melo KF, Mendonca BB, Billerbeck AE, Costa EM, Inácio M, Silva FA, Leal AM, et al. Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene. J Clin Endocrinol Metab 2003;88:3241–3250.
  • Morris JM, Mahesh VB. Further observations on the syndrome, “testicular ferminization”. Am J Obstet Gynecol 1963;87:731–748.
  • Gottlieb B, Lombroso R, Beitel LK, Trifiro MA. Molecular pathology of the androgen receptor in male (in)fertility. Reprod Biomed Online 2005;10:42–48.
  • Zuccarello D, Ferlin A, Vinanzi C, Prana E, Garolla A, Callewaert L, Claessens F, et al. Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility. Clin Endocrinol (Oxf) 2008;68:580–588.
  • Müller U, Schneider NR, Marks JF, Kupke KG, Wilson GN. Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization. Hum Genet 1990;84:289–292.
  • Xu W, Robert C, Thornton PS, Spinner NB. Complete androgen insensitivity syndrome due to X chromosome inversion: a clinical report. Am J Med Genet A 2003;120A:434–436.
  • Griffin JE, Wilson JD, Snyder PJ, Matsumoto AM, Martin KA. Clinical manifestations and pathogenesis of disorders of the androgen receptor. [http://www.uptodate.com]
  • Ris-Stalpers C, Verleun-Mooijman MC, de Blaeij TJ, Degenhart HJ, Trapman J, Brinkmann AO. Differential splicing of human androgen receptor pre-mRNA in X-linked Reifenstein syndrome, because of a deletion involving a putative branch site. Am J Hum Genet 1994;54:609–617.
  • Brüggenwirth HT, Boehmer AL, Ramnarain S, Verleun-Mooijman MC, Satijn DP, Trapman J, Grootegoed JA, Brinkmann AO. Molecular analysis of the androgen-receptor gene in a family with receptor-positive partial androgen insensitivity: an unusual type of intronic mutation. Am J Hum Genet 1997;61:1067–1077.
  • Holterhus PM, Brüggenwirth HT, Hiort O, Kleinkauf-Houcken A, Kruse K, Sinnecker GH, Brinkmann AO. Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome. J Clin Endocrinol Metab 1997;82:3584–3589.
  • Grino PB, Griffin JE, Cushard WG Jr, Wilson JD. A mutation of the androgen receptor associated with partial androgen resistance, familial gynecomastia, and fertility. J Clin Endocrinol Metab 1988;66:754–761.
  • Köhler B, Lumbroso S, Leger J, Audran F, Grau ES, Kurtz F, Pinto G, et al. Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling. J Clin Endocrinol Metab 2005;90:106–111.
  • Gottlieb B. The Androgen Receptor Gene Mutations Database World Wide Web Server. [http://www.androgendb.mcgill.ca].
  • Balducci R, Adamo M, Mangiantini A, Municchi G, Toscano V. Testicular responsiveness to a single hCG dose in patients with testicular femiization. Horm Metabol Res 1986;21:449–452.
  • Boyar RM, Moore RJ, Rosner W, Aiman J, Chipman J, Madden JD, Marks JF, Griffin JE. Studies of gonadotropin-gonadal dynamics in patients with androgen insensitivity. J Clin Endocrinol Metab 1978;47:1116–1122.
  • Van YH, Lin JL, Huang SF, Luo CC, Hwang CS, Lo FS. Novel point mutations in complete androgen insensitivity syndrome with incomplete müllerian regression: two Taiwanese patients. Eur J Pediatr 2003;162:781–784.
  • Gottlieb B, Beitel L, Trifiro MA. Androgen insensitivity syndrome. [http://www.geneclinics.org]
  • Audi L, Fernández-Cancio M, Carrascosa A, Andaluz P, Torán N, Piró C, Vilaró E, et al.; Grupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos (GrApSIA). Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development. J Clin Endocrinol Metab 2010;95:1876–1888.
  • Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P, Cartigny M, et al. Phenotypical, biological, and molecular heterogeneity of 5a-reductase deficiency: an extensive international experience of 55 patients. J Clin Endocrinol Metab 2011;96:296–307.
  • Fernández-Cancio M, Audí L, Andaluz P, Torán N, Piró C, Albisu M, Gussinyé M, et al SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation. Int J Androl 2011, doi: 10.1111/j.1365-2605.2010.01136.x.
  • Corbetta S, Muzza M, Avagliano L, Bulfamante G, Gaetti L, Eller-Vainicher C, Beck-Peccoz P, Spada A. Gonadal structures in a fetus with complete androgen insensitivity syndrome and persistent Müllerian derivatives: comparison with normal fetal development. Fertil Steril 2011;95:1119.e9–1119.e14.
  • Bianca S, Cataliotti A, Bartoloni G, Torrente I, Barrano B, Boemi G, Lo Presti M, et al. Prenatal diagnosis of androgen insensitivity syndrome. Fetal Diagn Ther 2009;26:167–169.
  • Dacou-Voutetakis C. A multidisciplinary approach to the management of children with complex genital anomalies. Nat Clin Pract Endocrinol Metab 2007;3:668–669.
  • Wisniewski AB, Migeon CJ, Meyer-Bahlburg HF, Gearhart JP, Berkovitz GD, Brown TR, Money J. Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome. J Clin Endocrinol Metab 2000;85:2664–2669.
  • Wilson JM, Arnhym A, Champeau A, Ebbers M, Coakley F, Baskin L. Complete androgen insensitivity syndrome: an anatomic evaluation and sexual function questionnaire pilot study. J Pediatr Urol 2011;7:416–421.
  • Kojima Y, Mizuno K, Nakane A, Kato T, Kohri K, Hayashi Y. Long-term physical, hormonal, and sexual outcome of males with disorders of sex development. J Pediatr Surg 2009;44:1491–1496.
  • El Saman AM, Ismael AM, Zakherah MS, Nasr A, Tawfik RM, Bedaiwy MA. Enhancement balloon vaginoplasty for treatment of blind vagina due to androgen insensitivity syndrome. Fertil Steril 2011;95:779–782.
  • Lima M, Ruggeri G, Randi B, Dòmini M, Gargano T, La Pergola E, Gregori G. Vaginal replacement in the pediatric age group: a 34-year experience of intestinal vaginoplasty in children and young girls. J Pediatr Surg 2010;45:2087–2091.
  • Vidal I, Gorduza DB, Haraux E, Gay CL, Chatelain P, Nicolino M, Mure PY, Mouriquand P. Surgical options in disorders of sex development (dsd) with ambiguous genitalia. Best Pract Res Clin Endocrinol Metab 2010;24:311–324.
  • Herman M, Wernicke GA, Yan W, Nori D, Parashar B. Pure seminoma in the setting of androgen insensitivity syndrome treated with surgical resection and para-aortic radiation: a case report and review of literature. J Cancer Res Ther 2010;6:318–320.
  • Sakai N, Yamada T, Asao T, Baba M, Yoshida M, Murayama T. Bilateral testicular tumors in androgen insensitivity syndrome. Int J Urol 2000;7:390–392.
  • Dimitri P, Cohen M, Wright N. Indications for familial screening and gonadectomy in patients with 46,XY gonadal dysgenesis. Int J Gynaecol Obstet 2006;95:167–168.
  • Dewhurst CJ, Ferreira HP, Gillett PG. Gonadal malignancy in XY females. J Obstet Gynaecol Br Commonw 1971;78:1077–1083.
  • Manuel M, Katayama PK, Jones HW Jr. The age of occurrence of gonadal tumors in intersex patients with a Y chromosome. Am J Obstet Gynecol 1976;124:293–300.
  • Lukusa T, Fryns JP, Kleczkowska A, Van den Berghe H. Role of gonadal dysgenesis in gonadoblastoma induction in 46, XY individuals. The Leuven experience in 46, XY pure gonadal dysgenesis and testicular feminization syndromes. Genet Couns 1991;2:9–16.
  • Alvarez-Nava F, Gonzalez S, Soto M, Martinez C, Prieto M. Complete androgen insensitivity syndrome: clinical and anatomopathological findings in 23 patients. Genet Couns 1997;8:7–12.
  • Collins GM, Kim DU, Logrono R, Rickert RR, Zablow A, Breen JL. Pure seminoma arising in androgen insensitivity syndrome (testicular feminization syndrome): a case report and review of the literature. Mod Pathol 1993;6:89–93.
  • Chen CP, Chern SR, Wang TY, Wang W, Wang KL, Jeng CJ. Androgen receptor gene mutations in 46,XY females with germ cell tumours. Hum Reprod 1999;14:664–670.
  • Rutgers JL, Scully RE. The androgen insensitivity syndrome (testicular feminization): a clinicopathologic study of 43 cases. Int J Gynecol Pathol 1991;10:126–144.
  • Dell’Edera D, Malvasi A, Vitullo E, Epifania AA, Tinelli A, Laterza F, Novelli A, et al. Androgen insensitivity syndrome (or Morris syndrome) and other associated pathologies. Eur Rev Med Pharmacol Sci 2010;14:947–957.
  • Likourinas M, Conidaris D, Alivizatos G, Dimopoulos MA. Complete testicular feminisation syndrome in three sisters. Br J Urol 1990;65:298–299.
  • Müller J, Skakkebaek NE. Testicular carcinoma in situ in children with the androgen insensitivity (testicular feminisation) syndrome. Br Med J (Clin Res Ed) 1984;288:1419–1420.
  • Griffin JE. Androgen resistance–the clinical and molecular spectrum. N Engl J Med 1992;326:611–618.
  • Chantilis SJ, McQuitty DA, Preminger GM, Marshburn PB. Laparoscopic removal of gonads containing on occult seminoma in a woman with complete androgen resistance. J Am Assoc Gynecol Laparosc 1994;1:277–282.
  • Bertelloni S, Baroncelli GI, Mora S. Bone health in disorders of sex differentiation. Sex Dev 2010;4:270–284.
  • Stevenson JC. HRT and cardiovascular disease. Best Pract Res Clin Obstet Gynaecol 2009;23:109–120.
  • Legroux-Gerot I, Vignau J, Collier F, Cortet B. Factors influencing changes in bone mineral density in patients with anorexia nervosa-related osteoporosis: the effect of hormone replacement therapy. Calcif Tissue Int 2008;83:315–323.
  • Vescovi JD, VanHeest JL, De Souza MJ. Short-term response of bone turnover to low-dose oral contraceptives in exercising women with hypothalamic amenorrhea. Contraception 2008;77:97–104.
  • Cobb KL, Bachrach LK, Sowers M, Nieves J, Greendale GA, Kent KK, Brown BW Jr, et al. The effect of oral contraceptives on bone mass and stress fractures in female runners. Med Sci Sports Exerc 2007;39:1464–1473.
  • Ward L, Tricco AC, Phuong P, Cranney A, Barrowman N, Gaboury I, Rauch F, et al. Bisphosphonate therapy for children and adolescents with secondary osteoporosis. Cochrane Database Syst Rev 2007;17:CD005324.
  • Dati E, Baroncelli GI, Mora S, Russo G, Baldinotti F, Parrini D, Erba P, et al. Body composition and metabolic profile in women with complete androgen insensitivity syndrome. Sex Dev 2009;3:188–193.
  • Kilani Z, Dajani Y, Qaddomi E, Haj Hassan L. Androgen insensitivity syndrome after preimplantation genetic diagnosis for sex selection: a case report. Fertil Steril 2009;92:1169.e5–1169.e7.
  • Cohen-Kettenis PT. Psychosocial and psychosexual aspects of disorders of sex development. Best Pract Res Clin Endocrinol Metab 2010;24:325–334.

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