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Cited by 553

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Androgen insensitivity syndrome

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Hughes, Ieuan A, Davies, John D, Bunch, Trevor I, Pasterski, Vickie, Mastroyannopoulou, Kiki, MacDougall, Jane·2012·The Lancet
DOI 10.1016/s0140-6736(12)60071-3
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  1. Jameson, 1999, Hormone resistance syndromes, Human Press, 1
  2. Semple, 2011, Genetic syndromes of severe insulin resistance, Endocr Rev, 32, 498, 10.1210/er.2010-0020 · DOI · Paper page
  3. Huhtaniemi, 2007, Mutations along the hypothalamic-pituitary-gonadal axis affecting male reproduction, Reprod Biomed Online, 15, 622, 10.1016/S1472-6483(10)60529-9 · DOI
  4. Morris, 1953, The syndrome of testicular feminization in male pseudohermaphrodites, Am J Obstet Gynecol, 65, 1192, 10.1016/0002-9378(53)90359-7 · DOI · Paper page
  5. Quigley, 1995, Androgen receptor defects: historical, clinical, and molecular perspectives, Endocr Rev, 16, 271
  6. Sarpel, 2005, The incidence of complete androgen insensitivity in girls with inguinal hernias and assessment of screening by vaginal length measurement, J Pediatr Surg, 40, 133, 10.1016/j.jpedsurg.2004.09.012 · doi:10.1016/j.jpedsurg.2004.09.012
  7. Hurme, 2009, Clinical findings in prepubertal girls with inguinal hernia with special reference to the diagnosis of androgen insensitivity syndrome, Scand J Urol Nephrol, 43, 42, 10.1080/00365590802299247 · doi:10.1080/00365590802299247
  8. Deeb, 2005, Inguinal hernia in female infants: a cue to check the sex chromosomes?, BJU Int, 96, 401, 10.1111/j.1464-410X.2005.05639.x · DOI
  9. Chiu, 2011, Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age, Semin Fetal Neonatal Med, 16, 88, 10.1016/j.siny.2010.10.003 · DOI
  10. Yalinkaya, 2007, Prenatal diagnosis of a fetus with androgen insensitivity syndrome (AIS), Prenat Diagn, 27, 856, 10.1002/pd.1747 · doi:10.1002/pd.1747
  11. Stewart, 2008, Detection of Y-chromosome in gonadal tumours using fluorescence in situ hybridization: diagnostic value in intersex conditions including older patients with clinically unsuspected androgen insensitivity syndrome, Histopathology, 52, 175, 10.1111/j.1365-2559.2007.02927.x · DOI
  12. Danilovic, 2007, Height and bone mineral density in androgen insensitivity syndrome with mutations in the androgen receptor gene, Osteoporos Int, 18, 369, 10.1007/s00198-006-0243-6 · DOI
  13. Han, 2008, Comparison of bone mineral density and body proportions between women with complete androgen insensitivity syndrome and women with gonadal dysgenesis, Eur J Endocrinol, 159, 179, 10.1530/EJE-08-0166 · DOI
  14. Papadimitriou, 2006, Puberty in subjects with complete androgen insensitivity syndrome, Horm Res, 65, 126
  15. Miles, 2010, The role of androgens in fetal growth: observational study in two genetic models of disordered androgen signalling, Arch Dis Child Fetal Neonatal Ed, 95, F435, 10.1136/adc.2009.173575 · DOI
  16. Melo, 2003, 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, 3241, 10.1210/jc.2002-021658 · DOI · Paper page
  17. Hughes, 2006, Androgen resistance, Best Pract Res Clin Endocrinol Metab, 20, 577, 10.1016/j.beem.2006.11.003 · DOI · Paper page
  18. Sinnecker, 1997, Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene, Eur J Pediatr, 156, 7, 10.1007/s004310050542 · DOI
  19. Bouvattier, 2002, Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene, J Clin Endocrinol Metab, 87, 29, 10.1210/jcem.87.1.7923 · doi:10.1210/jcem.87.1.7923 · Paper page
  20. Quigley, 2002, Editorial: The postnatal gonadotropin and sex steroid surge-insights from the androgen insensitivity syndrome, J Clin Endocrinol Metab, 87, 24
  21. Bergadá, 2006, Time course of the serum gonadotropin surge, inhibins, and anti-Müllerian hormone in normal newborn males during the first month of life, J Clin Endocrinol Metab, 91, 4092, 10.1210/jc.2006-1079 · DOI · Paper page
  22. Bay, 2007, Insulin-like factor 3 levels in cord blood and serum from children: effects of age, postnatal hypothalamic-pituitary-gonadal axis activation, and cryptorchidism, J Clin Endocrinol Metab, 92, 4020, 10.1210/jc.2007-0974 · DOI
  23. Ahmed, 2010, The concordance between serum anti-Mullerian hormone and testosterone concentrations depends on duration of hCG stimulation in boys undergoing investigation of gonadal function, Clin Endocrinol (Oxf), 72, 814, 10.1111/j.1365-2265.2009.03724.x · DOI
  24. Aksglaede, 2010, Changes in anti-Müllerian hormone (AMH) throughout the life span: a population-based study of 1027 healthy males from birth (cord blood) to the age of 69 years, J Clin Endocrinol Metab, 95, 5357, 10.1210/jc.2010-1207 · DOI · Paper page
  25. Rey, 1994, Anti-müllerian hormone in children with androgen insensitivity, J Clin Endocrinol Metab, 79, 960
  26. Boukari, 2009, 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, 1818, 10.1210/jc.2008-1909 · DOI · Paper page
  27. Michala, 2008, Swyer syndrome: presentation and outcomes, BJOG, 115, 737, 10.1111/j.1471-0528.2008.01703.x · DOI · Paper page
  28. Pittock, 2005, Mayer-Rokitansky-Küster-Hauser anomaly and its associated malformations, Am J Med Genet A, 135, 314, 10.1002/ajmg.a.30721 · doi:10.1002/ajmg.a.30721
  29. Faisal, 2011, UK guidance on the initial evaluation of an infant of an adolescent with a suspected disorder of sex development, Clin Endocrinol
  30. Veiga-Junior, 2012, Clinical and laboratorial features that may differentiate 46,XY DSD due to partial androgen insensitivity and 5α-reductase type 2 deficiency, Int J Endocrinol, 10.1155/2012/964876 · DOI
  31. Zuccarello, 2008, Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility, Clin Endocrinol (Oxf), 68, 580, 10.1111/j.1365-2265.2007.03069.x · DOI
  32. Yong, 1994, Pregnancy after hormonal correction of severe spermatogenic defect due to mutation in androgen receptor gene, Lancet, 344, 826, 10.1016/S0140-6736(94)92385-X · DOI
  33. Wang, 2009, Androgen receptor roles in spermatogenesis and fertility: lessons from testicular cell-specific androgen receptor knockout mice, Endocr Rev, 30, 119, 10.1210/er.2008-0025 · DOI · Paper page
  34. Finsterer, 2009, Bulbar and spinal muscular atrophy (Kennedy's disease): a review, Eur J Neurol, 16, 556, 10.1111/j.1468-1331.2009.02591.x · DOI
  35. La Spada, 1991, Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy, Nature, 352, 77, 10.1038/352077a0 · DOI · Paper page
  36. Thomas, 2006, Loss of endogenous androgen receptor protein accelerates motor neuron degeneration and accentuates androgen insensitivity in a mouse model of X-linked spinal and bulbar muscular atrophy, Hum Mol Genet, 15, 2225, 10.1093/hmg/ddl148 · DOI
  37. Voorhoeve, 2011, Androgen receptor gene CAG repeat polymorphism in longitudinal height and body composition in children and adolescents, Clin Endocrinol (Oxf), 74, 732, 10.1111/j.1365-2265.2011.03986.x · DOI
  38. Werner, 2006, The A645D mutation in the hinge region of the human androgen receptor (AR) gene modulates AR activity, depending on the context of the polymorphic glutamine and glycine repeats, J Clin Endocrinol Metab, 91, 3515, 10.1210/jc.2006-0372 · DOI
  39. Matias, 2000, Structural evidence for ligand specificity in the binding domain of the human androgen receptor. Implications for pathogenic gene mutations, J Biol Chem, 275, 26164, 10.1074/jbc.M004571200 · DOI · Paper page
  40. Evans, 1984, Studies of the androgen receptor in dispersed fibroblasts: investigation of patients with androgen insensitivity, Clin Endocrinol (Oxf), 20, 93, 10.1111/j.1365-2265.1984.tb00063.x · DOI
  41. Wang, 2005, Dissecting phenotypic variation among AIS patients, Biochem Biophys Res Commun, 335, 335, 10.1016/j.bbrc.2005.07.077 · DOI
  42. Holterhus, 2007, Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome, BMC Genomics, 8, 376, 10.1186/1471-2164-8-376 · DOI
  43. Szafran, 2009, Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine, PLoS One, 4, e8179, 10.1371/journal.pone.0008179 · DOI
  44. Lundberg Giwercman, 2000, Response to treatment in patients with partial androgen insensitivity due to mutations in the DNA-binding domain of the androgen receptor, Horm Res, 53, 83
  45. Tadokoro, 2009, Comparison of the molecular consequences of different mutations at residue 754 and 690 of the androgen receptor (AR) and androgen insensitivity syndrome (AIS) phenotype, Clin Endocrinol (Oxf), 71, 253, 10.1111/j.1365-2265.2008.03462.x · doi:10.1111/j.1365-2265.2008.03462.x
  46. Leslie, 1998, Haldane was right: de novo mutations in androgen insensitivity syndrome, J Pediatr, 132, 939, 10.1016/S0022-3476(98)70383-X · DOI
  47. Köhler, 2005, 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, 106, 10.1210/jc.2004-0462 · DOI
  48. Evans, 1997, Phenotypic diversity in siblings with partial androgen insensitivity syndrome, Arch Dis Child, 76, 529, 10.1136/adc.76.6.529 · DOI
  49. Holterhus, 2000, Phenotypic diversity and testosterone-induced normalization of mutant L712F androgen receptor function in a kindred with androgen insensitivity, J Clin Endocrinol Metab, 85, 3245
  50. Cheikhelard, 2008, Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome, J Urol, 180, 1496, 10.1016/j.juro.2008.06.045 · DOI
  51. Estebanez-Perpina, 2007, A surface on the androgen receptor that allosterically regulates coactivators binding, Proc Natl Acad Sci USA, 10, 16074, 10.1073/pnas.0708036104 · DOI · Paper page
  52. Tahiri, 2001, Participation of critical residues from the extreme C-terminal end of the human androgen receptor in the ligand binding function, Biochemistry, 40, 8431, 10.1021/bi010146q · doi:10.1021/bi010146q
  53. Ahmed, 2000, Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome, J Clin Endocrinol Metab, 85, 658
  54. Werner, 2008, In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits, Sex Dev, 2, 73, 10.1159/000129692 · DOI
  55. Hughes, 1986, Complete androgen insensitivity syndrome characterized by increased concentration of a normal androgen receptor in genital skin fibroblasts, J Clin Endocrinol Metab, 63, 309, 10.1210/jcem-63-2-309 · doi:10.1210/jcem-63-2-309
  56. Quigley, 1992, Complete androgen insensitivity due to deletion of exon C of the androgen receptor gene highlights the functional importance of the second zinc finger of the androgen receptor in vivo, Mol Endocrinol, 6, 1103
  57. Gewirth, 1995, The basis for half-site specificity explored through a non-cognate steroid receptor-DNA complex, Nat Struct Biol, 2, 386, 10.1038/nsb0595-386 · DOI
  58. Hiort, 1994, Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis, Hum Mol Genet, 3, 1163, 10.1093/hmg/3.7.1163 · doi:10.1093/hmg/3.7.1163
  59. Scheiber, 2003, Mutational analysis of Hungarian patients with androgen insensitivity syndrome, J Pediatr Endocrinol Metab, 16, 367, 10.1515/JPEM.2003.16.3.367 · doi:10.1515/jpem.2003.16.3.367
  60. Audi, 2010, 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, 95, 1876, 10.1210/jc.2009-2146 · DOI
  61. Zuccarello, 2008, Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility, Clin Endocrinol (Oxf), 68, 580, 10.1111/j.1365-2265.2007.03069.x · DOI
  62. Brain, 2010, Holistic management of DSD, Best Pract Res Clin Endocrinol Metab, 24, 335, 10.1016/j.beem.2010.01.006 · DOI · Paper page
  63. Douglas, 2010, Consensus in guidelines for evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team, Int J Ped Endocrinol, 919707, 10.1186/1687-9856-2010-919707 · doi:10.1186/1687-9856-2010-919707
  64. Houk, 2012, Update on disorders of sex development, Curr Opin Endocrinol Diabetes Obes, 19, 28, 10.1097/MED.0b013e32834edacb · doi:10.1097/med.0b013e32834edacb
  65. Pasterski, 2010, Consequences of the Chicago consensus on disorders of sex development (DSD): current practices in Europe, Arch Dis Child, 95, 618, 10.1136/adc.2009.163840 · DOI
  66. Davies, 2011, Evaluation of terminology used to describe disorders of sex development, J Pediatr Urol, 7, 412, 10.1016/j.jpurol.2010.07.004 · DOI
  67. Hughes, 2010, The quiet revolution: disorders of sex development, Best Pract Res Clin Endocrinol Metab, 24, 159, 10.1016/j.beem.2010.03.005 · DOI
  68. Kim, 2005, Unexpected finding during inguinal hernia repair in a girl, Surgery, 138, 954, 10.1016/j.surg.2004.04.035 · doi:10.1016/j.surg.2004.04.035
  69. Hannema, 2006, Testicular development in the complete androgen insensitivity syndrome, J Pathol, 208, 518, 10.1002/path.1890 · DOI · Paper page
  70. Looijenga, 2007, Tumor risk in disorders of sex development (DSD), Best Pract Res Clin Endocrinol Metab, 21, 480, 10.1016/j.beem.2007.05.001 · DOI · Paper page
  71. Illig, 1990, A physiological mode of puberty induction in hypogonadal girls by low dose transdermal 17 beta-oestradiol, Eur J Pediatr, 150, 86, 10.1007/BF02072044 · DOI
  72. Danilovic, 2007, Height and bone mineral density in androgen insensitivity syndrome with mutations in the androgen receptor gene, Osteoporos Int, 18, 369, 10.1007/s00198-006-0243-6 · DOI
  73. Bertelloni, 2010, Bone health in disorders of sex differentiation, Sex Dev, 4, 270, 10.1159/000315961 · DOI
  74. Han, 2008, Comparison of bone mineral density and body proportions between women with complete androgen insensitivity syndrome and women with gonadal dysgenesis, Eur J Endocrinol, 159, 179, 10.1530/EJE-08-0166 · DOI
  75. Rutgers, 1991, The androgen insensitivity syndrome (testicular feminization): a clinicopathologic study of 43 cases, Int J Gynecol Pathol, 10, 126, 10.1097/00004347-199104000-00002 · DOI · Paper page
  76. Deans, 2012, Timing of gonadectomy in adult women with complete androgen insensitivity syndrome: patient preferences and clinical evidence, Clin Endocrinol, 10.1111/j.1365-2265.2012.04330.x · DOI · Paper page
  77. Looijenga, 2010, Gonadal tumours and DSD, Best Pract Res Clin Endocrinol Metab, 24, 291, 10.1016/j.beem.2009.10.002 · DOI
  78. Rajpert-de Meyts, 2007, From gonocytes to testicular cancer: the role of impaired gonadal development, Ann N Y Acad Sci, 1120, 168, 10.1196/annals.1411.013 · DOI
  79. Looijenga, 2011, Dissecting the molecular pathways of (testicular) germ cell tumour pathogenesis; from initiation to treatment-resistance, Int J Androl, 34, e234, 10.1111/j.1365-2605.2011.01157.x · DOI
  80. Ismail-Pratt, 2007, Normalization of the vagina by dilator treatment alone in Complete Androgen Insensitivity Syndrome and Mayer-Rokitansky-Kuster-Hauser Syndrome, Hum Reprod, 22, 2020, 10.1093/humrep/dem074 · DOI · Paper page
  81. Purves, 2008, Complete androgen insensitivity: the role of the surgeon, J Urol, 180, 1716, 10.1016/j.juro.2008.03.110 · DOI
  82. Crouch, 2011, Androgen-dependent measurements of female genitalia in women with complete androgen insensitivity syndrome, BJOG, 118, 84, 10.1111/j.1471-0528.2010.02778.x · DOI
  83. Wilson, 2011, Complete androgen insensitivity syndrome: an anatomic evaluation and sexual function questionnaire pilot study, J Pediatr Urol, 7, 416, 10.1016/j.jpurol.2010.07.002 · DOI
  84. Liao, 2003, Learning to assist women with atypical genitalia: journey through ignorance, taboo and dilemma, J Reprod Infant Psychol, 21, 229, 10.1080/0264683031000154971 · doi:10.1080/0264683031000154971
  85. Shah, 1992, Testicular feminization: the androgen insensitivity syndrome, J Pediatr Surg, 27, 757, 10.1016/S0022-3468(05)80110-1 · doi:10.1016/s0022-3468(05)80110-1
  86. Jorgensen, 2010, Care of women with XY karyotype: a clinical practice guideline, Fertil Steril, 94, 105, 10.1016/j.fertnstert.2009.02.087 · DOI
  87. Liao, 2010, Adolescent girls with disorders of sex development: a needs analysis of transitional care, J Pediatr Urol, 6, 609, 10.1016/j.jpurol.2010.07.006 · DOI
  88. Slijper, 2000, Androgen insensitivity syndrome (AIS): emotional reactions of parents and adult patients to the clinical diagnosis of AIS and its confirmation by androgen receptor gene mutation analysis, Horm Res, 53, 9
  89. Liao, 2010, Service users' experiences of obtaining and giving information about disorders of sex development, BJOG, 117, 193, 10.1111/j.1471-0528.2009.02385.x · DOI
  90. Goodall, 1991, Helping a child to understand her own testicular feminisation, Lancet, 337, 33, 10.1016/0140-6736(91)93344-9 · DOI
  91. Cohen-Kettenis, 2010, Psychosocial and psychosexual aspects of disorders of sex development, Best Pract Res Clin Endocrinol Metab, 24, 325, 10.1016/j.beem.2009.11.005 · DOI
  92. Minto, 2003, Sexual function in women with complete androgen insensitivity syndrome, Fertil Steril, 80, 157, 10.1016/S0015-0282(03)00501-6 · DOI · Paper page
  93. Hughes, 2007, Early management and gender assignment in disorders of sexual differentiation, Endocr Dev, 11, 47, 10.1159/000111057 · doi:10.1159/000111057
  94. Ahmed, 2000, The role of a clinical score in the assessment of ambiguous genitalia, BJU Int, 85, 120, 10.1046/j.1464-410x.2000.00354.x · DOI · Paper page
  95. Poujol, 1997, Functional and structural analysis of R607Q and R608K androgen receptor substitutions associated with male breast cancer, Mol Cell Endocrinol, 130, 43, 10.1016/S0303-7207(97)00072-5 · DOI
  96. Davis, 2001, A 19 year old with complete androgen insensitivity syndrome and juvenile fibroadenoma of the breast, Breast J, 7, 430, 10.1046/j.1524-4741.2001.07610.x · doi:10.1046/j.1524-4741.2001.07610.x
  97. Cools, 2006, Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers, Endocr Rev, 27, 468, 10.1210/er.2006-0005 · DOI · Paper page
  98. Bouvattier, 2006, Impaired sexual activity in male adults with partial androgen insensitivity, J Clin Endocrinol Metab, 91, 3310, 10.1210/jc.2006-0218 · DOI

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Metadata

Authors
Hughes, I. A., Davies, J. D., Bunch, T. I., Pasterski, V., Mastroyannopoulou, K., & MacDougall, J.
Venue
The Lancet
Publisher
Elsevier BV
Published
2012-10
Volume
380
Issue
9851
Pages
1419-1428
ISSN
  • 0099-5355 (ISSN-L)
  • 0140-6736
DOI
10.1016/s0140-6736(12)60071-3
OpenAlex
W2020265106
Cited by
553
References
10
FWCI
11.97
Type
journal article
Language
en
Open access
green
Licence
Funders
Seventh Framework Programme (201444)

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Hughes, I. A., Davies, J. D., Bunch, T. I., Pasterski, V., Mastroyannopoulou, K., & MacDougall, J. (2012). Androgen insensitivity syndrome. The Lancet. https://doi.org/10.1016/s0140-6736(12)60071-3

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