Complete androgen insensitivity syndrome: diagnosis and management

References

• Morris JM. The syndrome of testicular feminization in male pseudohermaphrodites. Am. J. Obstet. Gynecol.65, 1192–1211 (1953).
   PubMed Web of Science ®Google Scholar
• Ahmed SF, Cheng A, Dovey L et al. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J. Clin. Endocrinol. Metab.85(2), 658–665 (2000).
   PubMed Web of Science ®Google Scholar
• Wisniewski AB, Migeon CJ, Meyer-Bahlburg HF et al. Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome. J. Clin. Endocrinol. Metab.85(8), 2664–2669 (2000).
   PubMed Web of Science ®Google Scholar
• Boehmer AL, Brinkmann O, Brüggenwirth H et al. Genotype versus phenotype in families with androgen insensitivity syndrome. J. Clin. Endocrinol. Metab.86(9), 4151–4160 (2001).
   PubMed Web of Science ®Google Scholar
• Melo KF, Mendonca BB, Billerbeck AE 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.88(7), 3241–3250 (2003).
   PubMed Web of Science ®Google Scholar
• Cheikhelard A, Morel Y, Thibaud E et al. Long-term follow-up and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome. J. Urol.180(4), 496–501 (2008).
   Google Scholar
• Purves JT, Miles-Thomas J, Migeon C, Gearhart JP. Complete androgen insensitivity: the role of the surgeon. J. Urol.180(4 Suppl.), 1716–1719 (2008).
   PubMed Web of Science ®Google Scholar
• Minto CL, Liao KL, Conway GS et al. Sexual function in women with complete androgen insensitivity syndrome. Fertil. Steril.80(1), 157–164 (2003).
   PubMed Web of Science ®Google Scholar
• Hines M, Ahmed SF, Hughes IA. Psychological outcomes and gender-related development in complete androgen insensitivity syndrome. Arch. Sex. Behav.32(2), 93–101 (2003).
   PubMed Web of Science ®Google Scholar
• Deeb A, Hughes IA. Inguinal hernia in female infants: a cue to check the sex chromosomes? BJU Int.96(3), 401–403 (2005).
   Google Scholar
• Gottlieb B, Beitel LK, Wu JH, Trifiro M. The androgen receptor gene mutations database (ARDB): 2004 update. Hum. Mutat.23(6), 527–533 (2004).
   PubMed Web of Science ®Google Scholar
• Sobel V, Schwartz B, Zhu YS et al. Bone mineral density in the complete androgen insensitivity and 5α-reductase-2 deficiency syndromes. J. Clin. Endocrinol. Metab.91(8), 3017–3023 (2006).
   Google Scholar
• Conn J, Gillam L, Conway GS. Revealing the diagnosis of androgen insensitivity syndrome in adulthood. BMJ331(7517), 628–630 (2005).
   PubMed Web of Science ®Google Scholar
• Lee PA, Houk CP, Ahmed SF et al. International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Pediatrics118(2), e488–e500 (2006).
   PubMed Web of Science ®Google Scholar
• Baksu A, Kabukcuoglu F, Baksu B et al. Bilateral sertoli cell adenoma and serous cyst in a patient with androgen insensitivity syndrome. Eur. J. Obstet. Gynecol. Reprod. Biol.114(1), 104–107 (2004).
   Google Scholar
• Hughes IA, Deeb A. Androgen resistance. Best. Pract. Res. Clin. Endocrinol. Metab.20(4), 577–598 (2006).
   PubMed Web of Science ®Google Scholar
• Galani A, Kitsiou-Tzeli S, Sofokleous C et al. Androgen insensitivity syndrome: clinical features and molecular defects. Hormones (Athens)7(3), 217–29 (2008).
   PubMedGoogle Scholar
• Hannema SE, Scott IS, Rajpert-De Meyts E et al., Testicular development in the complete androgen insensitivity syndrome. J. Pathol.208(4), 518–527 (2006).
   PubMed Web of Science ®Google Scholar
• Sarpel U, Palmer SK, Dolgin SE. The incidence of complete androgen insensitivity in girls with inguinal hernias and assessment of screening by vaginal length measurement. J. Pediatr. Surg.40(1), 133–136, discussion 136–137 (2005).
   PubMed Web of Science ®Google Scholar
• Hurme T, Lahdes-Vasama T, Makela E et al. Clinical findings in prepubertal girls with inguinal hernia with special reference to the diagnosis of androgen insensitivity syndrome. Scand. J. Urol. Nephrol.43(1), 42–46 (2009).
   PubMed Web of Science ®Google Scholar
• Bouvattier C, Carel JC, Lecointre C et al. Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene. J. Clin. Endocrinol. Metab.87(1), 29–32 (2002).
   PubMed Web of Science ®Google Scholar
• Papadimitriou DT, Linglart A, Morel Y et al. Puberty in subjects with complete androgen insensitivity syndrome. Horm. Res.65(3), 126–131 (2006).
   PubMedGoogle Scholar
• Jorgensen PB, Kjartansdóttir KR, Fedder J. Care of women with XY karyotype: a clinical practice guideline. Fertil. Steril. (2009) (Epub ahead of print).
   Google Scholar
• Boukari K, Meduri G, Brailly-Tabard S et al. Lack of androgen receptor expression in Sertoli cells accounts for the absence of anti-Mullerian hormone repression during early human testis development. J. Clin. Endocrinol. Metab.94(5), 1818–1825 (2009).
   PubMed Web of Science ®Google Scholar
• Hannema SE, Scott IS, Hodapp J et al. Residual activity of mutant androgen receptors explains Wolffian duct development in the complete androgen insensitivity syndrome. J. Clin. Endocrinol. Metab.89(11), 5815–5822 (2004).
   PubMedGoogle Scholar
• Barbaro M, Oscarson M, Almskog I et al. Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development. Clin. Endocrinol. (Oxf.)66(6), 822–826 (2007).
   Google Scholar
• Cools M, van Aerde K, Kersemaekers AM et al. Morphological and immunohistochemical differences between gonadal maturation delay and early germ cell neoplasia in patients with undervirilization syndromes. J. Clin. Endocrinol. Metab.90(9), 5295–5303 (2005).
   PubMed Web of Science ®Google Scholar
• Cheng L, Sung MT, Cossu-Rocca P et al. OCT4: biological functions and clinical applications as a marker of germ cell neoplasia. J. Pathol.211(1), 1–9 (2007).
   PubMed Web of Science ®Google Scholar
• Looijenga LH, Hersmus R, Oosterhuis JW et al. Tumor risk in disorders of sex development (DSD). Best Pract. Res. Clin. Endocrinol. Metab.21(3), 480–495 (2007).
   PubMed Web of Science ®Google Scholar
• Köhler B, Lumbroso S, Leger J 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.90(1), 106–111 (2005).
   PubMedGoogle Scholar
• Nichols JL, Bieber EJ, Gell JS. Case of sisters with complete androgen insensitivity syndrome and discordant Müllerian remnants. Fertil. Steril.91(3), 932.e.15–932.e.18 (2009).
   Google Scholar
• Quigley CA, Friedman KJ, Johnson A. Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status. J. Clin. Endocrinol. Metab.74(4), 927–933 (1992).
   Google Scholar
• Han TS, Goswami D, Trikudanathan S et al. Comparison of bone mineral density and body proportions between women with complete androgen insensitivity syndrome and women with gonadal dysgenesis. Eur. J. Endocrinol.159(2), 179–185 (2008).
   PubMed Web of Science ®Google Scholar
• Frank GR. Role of estrogen and androgen in pubertal skeletal physiology. Med. Pediatr. Oncol.41(3), 217–221 (2003).
   PubMedGoogle Scholar
• Taes Y, Lapauw B, Vandewalle S et al. Estrogen-specific action on bone geometry and volumetric bone density: longitudinal observations in an adult with complete androgen insensitivity. Bone45(2), 392–397 (2009).
   PubMed Web of Science ®Google Scholar
• Hindmarsh PC. How do you initiate oestrogen therapy in a girl that has not undergone puberty? Clin. Endocrinol. (Oxf.)71(1), 7–10 (2009).
   Google Scholar
• Bertelloni S, Dati E, Baroncelli GI. Disorders of sex development: hormonal management in adolescence. Gynecol. Endocrinol.24(6), 339–46 (2008).
   PubMed Web of Science ®Google Scholar
• DiVasta AD, Gordon CM. Hormone replacement therapy for the adolescent patient. Ann. NY Acad. Sci.1135, 204–211(2008).
   Google Scholar
• Cools M, Drop SL, Wolffenbuttel KP et al. Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers. Endocr. Rev.27(5), 468–484 (2006).
   PubMed Web of Science ®Google Scholar
• Iwamoto I, Yanazume S, Fujino T et al. Leydig cell tumor in an elderly patient with complete androgen insensitivity syndrome. Gynecol. Oncol.96(3), 870–872 (2005).
   PubMedGoogle Scholar
• Talerman A, Roth LM. Recent advances in the pathology and classification of gonadal neoplasms composed of germ cells and sex cord derivatives. Int. J. Gynecol. Pathol.26(3), 313–321 (2007).
   PubMedGoogle Scholar
• Horcher E, Grünberger W, Parschalk O. Classical seminoma in a case of testicular feminization syndrome. Prog. Pediatr. Surg.16, 139–141 (1983).
   Google Scholar
• Hurt WG, Bodurtha JN, McCall JB et al. Seminoma in pubertal patient with androgen insensitivity syndrome. Am. J. Obstet. Gynecol.161(3), 530–531 (1989).
   PubMedGoogle Scholar
• Rutgers JL, Scully RE. The androgen insensitivity syndrome (testicular feminization): a clinicopathologic study of 43 cases. Int. J. Gynecol. Pathol.10(2), 126–144 (1991).
   PubMed Web of Science ®Google Scholar
• Lloyd J, Crouch NS, Minto CL et al. Female genital appearance: ‘normality’ unfolds. BJOG112(5), 643–646 (2005).
   PubMed Web of Science ®Google Scholar
• Ismail-Pratt IS, Bikoo M, Liao LM et al. Normalization of the vagina by dilator treatment alone in complete androgen insensitivity syndrome and Mayer-Rokitansky-Kuster-Hauser syndrome. Hum. Reprod.22(7), 2020–2024 (2007).
   PubMed Web of Science ®Google Scholar
• Mazur T. Gender dysphoria and gender change in androgen insensitivity or micropenis. Arch. Sex. Behav.34(4), 411–421 (2005).
   PubMed Web of Science ®Google Scholar
• Reiner WG. Gender identity and sex-of-rearing in children with disorders of sexual differentiation. J. Pediatr. Endocrinol. Metab.18(6), 549–553 (2005).
   PubMed Web of Science ®Google Scholar
• Danilovic DL, Correa PH, Costa EM et al. Height and bone mineral density in androgen insensitivity syndrome with mutations in the androgen receptor gene. Osteoporos. Int.18(3), 369–374 (2007).
   PubMed Web of Science ®Google Scholar
• Vanderschueren D, Vandenput L, Boonen S et al. Androgens and bone. Endocr. Rev.25(3), 389–425 (2004).
   PubMed Web of Science ®Google Scholar
• Salmasi AH, Wisniewski AB, Novak TE et al. Prostate screening in patients with 46,XY disorders of sex development – is it necessary? J. Urol.180(4), 1422–1425 (2008).
   Google Scholar
• Robboy SJ, Jaubert F. Neoplasms and pathology of sexual developmental disorders (intersex). Pathology39(1), 147–163 (2007).
   PubMed Web of Science ®Google Scholar
• Kerkhofs S, Denayer S, Haelens A et al. Androgen receptor knockout and knock-in mouse models. J. Mol. Endocrinol.42(1), 11–17 (2009).
   PubMed Web of Science ®Google Scholar
• Berg JS, French SL, McCullough LB et al. Ethical and legal implications of genetic testing in androgen insensitivity syndrome. J. Pediatr.150(4), 434–438 (2007).
   PubMed Web of Science ®Google Scholar
• Quigley CA, De Bellis A, Marschke KB et al. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr. Rev.16(3), 271–321 (1995).
   PubMed Web of Science ®Google Scholar
• Werner R, Zhan J, Gesing J et al.In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits. Sex. Dev.2(2), 73–83 (2008).
   Google Scholar
• Davies MC, Creighton SM, Woodhouse CR. The pitfalls of vaginal construction. BJU Int.95(9), 1293–1298 (2005).
   Web of Science ®Google Scholar
• Burgu B, Duffy PG, Cuckow P et al. Long-term outcome of vaginal reconstruction: comparing techniques and timing. J. Pediatr. Urol.3(4), 316–320 (2007).
   PubMedGoogle Scholar
• Johannsen TH, Ripa CP, Mortensen EL et al. Quality of life in 70 women with disorders of sex development. Eur. J. Endocrinol.155(6), 877–885 (2006).
   PubMed Web of Science ®Google Scholar
• Oakes MB, Eyvazzadeh AD, Quint E et al. Complete androgen insensitivity syndrome – a review. J. Pediatr. Adolesc. Gynecol.21(6), 305–10 (2008).
   PubMed Web of Science ®Google Scholar
• Heller-Boersma JG, Schmidt UH, Edmonds DK. A randomized controlled trial of a cognitive-behavioural group intervention versus waiting-list control for women with uterovaginal agenesis (Mayer-Rokitansky-Küster-Hauser syndrome: MRKH). Hum. Reprod.22(8), 2296–301(2007).
   PubMed Web of Science ®Google Scholar
• Heller-Boersma JG, Edmonds DK, Schmidt UH. A cognitive behavioural model and therapy for utero-vaginal agenesis (Mayer–Rokitansky–Küster–Hauser syndrome: MRKH). Behav. Cogn. Psychother.37(4), 449–467 (2009).
   Google Scholar
• Bilezikian JP. Efficacy of bisphosphonates in reducing fracture risk in postmenopausal osteoporosis. Am. J. Med.122(2 Suppl.), S14–S21 (2009).
   Web of Science ®Google Scholar
• Dennis C. Brain development: the most important sexual organ. Nature427(6973), 390–392 (2004).
   Web of Science ®Google Scholar
• Arnold AP, Xu J, Grisham W et al. Minireview: Sex chromosomes and brain sexual differentiation. Endocrinology145(3), 1057–1062 (2004).
   PubMed Web of Science ®Google Scholar