References analysis of the Wikipedia article "Mild androgen insensitivity syndrome" in the English version

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Hughes IA, Deeb A (December 2006). "Androgen resistance". Best Pract. Res. Clin. Endocrinol. Metab. 20 (4): 577–98. doi:10.1016/j.beem.2006.11.003. PMID 17161333.

Galani A, Kitsiou-Tzeli S, Sofokleous C, Kanavakis E, Kalpini-Mavrou A (2008). "Androgen insensitivity syndrome: clinical features and molecular defects". Hormones (Athens). 7 (3): 217–29. doi:10.14310/horm.2002.1201. PMID 18694860.

Quigley CA, De Bellis A, Marschke KB, el-Awady MK, Wilson EM, French FS (June 1995). "Androgen receptor defects: historical, clinical, and molecular perspectives". Endocr. Rev. 16 (3): 271–321. doi:10.1210/edrv-16-3-271. PMID 7671849.

Giwercman YL, Nordenskjöld A, Ritzén EM, Nilsson KO, Ivarsson SA, Grandell U, Wedell A (June 2002). "An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity". J. Clin. Endocrinol. Metab. 87 (6): 2623–8. doi:10.1210/jcem.87.6.8518. PMID 12050225.

Zuccarello D, Ferlin A, Vinanzi C, Prana E, Garolla A, Callewaert L, Claessens F, Brinkmann AO, Foresta C (April 2008). "Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility". Clin. Endocrinol. 68 (4): 580–8. doi:10.1111/j.1365-2265.2007.03069.x. PMID 17970778. S2CID 2783902.

Ferlin A, Vinanzi C, Garolla A, Selice R, Zuccarello D, Cazzadore C, Foresta C (November 2006). "Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations". Clin. Endocrinol. 65 (5): 606–10. doi:10.1111/j.1365-2265.2006.02635.x. PMID 17054461. S2CID 33713391.

Stouffs K, Tournaye H, Liebaers I, Lissens W (2009). "Male infertility and the involvement of the X chromosome". Hum. Reprod. Update. 15 (6): 623–37. doi:10.1093/humupd/dmp023. PMID 19515807.

Giwercman YL, Nikoshkov A, Byström B, Pousette A, Arver S, Wedell A (June 2001). "A novel mutation (N233K) in the transactivating domain and the N756S mutation in the ligand binding domain of the androgen receptor gene are associated with male infertility". Clin. Endocrinol. 54 (6): 827–34. doi:10.1046/j.1365-2265.2001.01308.x. PMID 11422119. S2CID 23554058.

Lund A, Juvonen V, Lähdetie J, Aittomäki K, Tapanainen JS, Savontaus ML (June 2003). "A novel sequence variation in the transactivation regulating domain of the androgen receptor in two infertile Finnish men". Fertil. Steril. 79 (Suppl 3): 1647–8. doi:10.1016/s0015-0282(03)00256-5. PMID 12801573.

Ozülker T, Ozpaçaci T, Ozülker F, Ozekici U, Bilgiç R, Mert M (January 2010). "Incidental detection of Sertoli-Leydig cell tumor by FDG PET/CT imaging in a patient with androgen insensitivity syndrome". Ann Nucl Med. 24 (1): 35–9. doi:10.1007/s12149-009-0321-x. PMID 19957213. S2CID 10450803.

Davis-Dao CA, Tuazon ED, Sokol RZ, Cortessis VK (November 2007). "Male infertility and variation in CAG repeat length in the androgen receptor gene: a meta-analysis". J. Clin. Endocrinol. Metab. 92 (11): 4319–26. doi:10.1210/jc.2007-1110. PMID 17684052.

Kawate H, Wu Y, Ohnaka K, Tao RH, Nakamura K, Okabe T, Yanase T, Nawata H, Takayanagi R (November 2005). "Impaired nuclear translocation, nuclear matrix targeting, and intranuclear mobility of mutant androgen receptors carrying amino acid substitutions in the deoxyribonucleic acid-binding domain derived from androgen insensitivity syndrome patients". J. Clin. Endocrinol. Metab. 90 (11): 6162–9. doi:10.1210/jc.2005-0179. PMID 16118342.

Gottlieb B, Lombroso R, Beitel LK, Trifiro MA (January 2005). "Molecular pathology of the androgen receptor in male (in)fertility". Reprod. Biomed. Online. 10 (1): 42–8. doi:10.1016/S1472-6483(10)60802-4. PMID 15705293.

Ahmed SF, Cheng A, Hughes IA (April 1999). "Assessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome". Arch. Dis. Child. 80 (4): 324–9. doi:10.1136/adc.80.4.324. PMC 1717906. PMID 10086936.

Pinsky L, Kaufman M, Killinger DW (January 1989). "Impaired spermatogenesis is not an obligate expression of receptor-defective androgen resistance". Am. J. Med. Genet. 32 (1): 100–4. doi:10.1002/ajmg.1320320121. PMID 2705470.

Wang Q, Ghadessy FJ, Yong EL (September 1998). "Analysis of the transactivation domain of the androgen receptor in patients with male infertility". Clin. Genet. 54 (3): 185–92. doi:10.1111/j.1399-0004.1998.tb04282.x. PMID 9788719. S2CID 37298255.

Wang Q, Ghadessy FJ, Trounson A, de Kretser D, McLachlan R, Ng SC, Yong EL (December 1998). "Azoospermia associated with a mutation in the ligand-binding domain of an androgen receptor displaying normal ligand binding, but defective trans-activation". J. Clin. Endocrinol. Metab. 83 (12): 4303–9. doi:10.1210/jcem.83.12.5358. PMID 9851768.

Oakes MB, Eyvazzadeh AD, Quint E, Smith YR (December 2008). "Complete androgen insensitivity syndrome--a review". J Pediatr Adolesc Gynecol. 21 (6): 305–10. doi:10.1016/j.jpag.2007.09.006. PMID 19064222.

Yong EL, Loy CJ, Sim KS (2003). "Androgen receptor gene and male infertility". Hum. Reprod. Update. 9 (1): 1–7. doi:10.1093/humupd/dmg003. PMID 12638777.

Grino PB, Griffin JE, Cushard WG, Wilson JD (April 1988). "A mutation of the androgen receptor associated with partial androgen resistance, familial gynecomastia, and fertility". J. Clin. Endocrinol. Metab. 66 (4): 754–61. doi:10.1210/jcem-66-4-754. PMID 3346354.

Shkolny DL, Beitel LK, Ginsberg J, Pekeles G, Arbour L, Pinsky L, Trifiro MA (February 1999). "Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively". J. Clin. Endocrinol. Metab. 84 (2): 805–10. doi:10.1210/jcem.84.2.5453. PMID 10022458.

Tsukada T, Inoue M, Tachibana S, Nakai Y, Takebe H (October 1994). "An androgen receptor mutation causing androgen resistance in undervirilized male syndrome". J. Clin. Endocrinol. Metab. 79 (4): 1202–7. doi:10.1210/jcem.79.4.7962294. PMID 7962294.

Zenteno JC, Chávez B, Vilchis F, Kofman-Alfaro S (2002). "Phenotypic heterogeneity associated with identical mutations in residue 870 of the androgen receptor". Horm. Res. 57 (3–4): 90–3. doi:10.1159/000057958. PMID 12006704. S2CID 23484493.

Casella R, Maduro MR, Lipshultz LI, Lamb DJ (November 2001). "Significance of the polyglutamine tract polymorphism in the androgen receptor". Urology. 58 (5): 651–6. doi:10.1016/S0090-4295(01)01401-7. PMID 11711330.

Dejager S, Bry-Gauillard H, Bruckert E, Eymard B, Salachas F, LeGuern E, Tardieu S, Chadarevian R, Giral P, Turpin G (August 2002). "A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length". J. Clin. Endocrinol. Metab. 87 (8): 3893–901. doi:10.1210/jcem.87.8.8780. PMID 12161529.

La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH (July 1991). "Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy". Nature. 352 (6330): 77–9. Bibcode:1991Natur.352...77S. doi:10.1038/352077a0. PMID 2062380. S2CID 1678351.

Arbizu T, Santamaría J, Gomez JM, Quílez A, Serra JP (June 1983). "A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure". J. Neurol. Sci. 59 (3): 371–82. doi:10.1016/0022-510X(83)90022-9. PMID 6683750. S2CID 830839.

Choong CS, Wilson EM (December 1998). "Trinucleotide repeats in the human androgen receptor: a molecular basis for disease". J. Mol. Endocrinol. 21 (3): 235–57. doi:10.1677/jme.0.0210235. PMID 9845666.

Biancalana V, Serville F, Pommier J, Julien J, Hanauer A, Mandel JL (July 1992). "Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy". Hum. Mol. Genet. 1 (4): 255–8. doi:10.1093/hmg/1.4.255. PMID 1303195.

Nichols JL, Bieber EJ, Gell JS (March 2009). "Case of sisters with complete androgen insensitivity syndrome and discordant Müllerian remnants". Fertil. Steril. 91 (3): 932.e15–8. doi:10.1016/j.fertnstert.2008.09.027. PMID 18930210.

Chu J, Zhang R, Zhao Z, Zou W, Han Y, Qi Q, Zhang H, Wang JC, Tao S, Liu X, Luo Z (January 2002). "Male fertility is compatible with an Arg(840)Cys substitution in the AR in a large Chinese family affected with divergent phenotypes of AR insensitivity syndrome". J. Clin. Endocrinol. Metab. 87 (1): 347–51. doi:10.1210/jcem.87.1.8167. PMID 11788673.

Menakaya UA, Aligbe J, Iribhogbe P, Agoreyo F, Okonofua FE (May 2005). "Complete androgen insensitivity syndrome with persistent Mullerian derivatives: a case report". J Obstet Gynaecol. 25 (4): 403–5. doi:10.1080/01443610500143226. PMID 16091340. S2CID 25377683.

Giwercman A, Kledal T, Schwartz M, Giwercman YL, Leffers H, Zazzi H, Wedell A, Skakkebaek NE (June 2000). "Preserved male fertility despite decreased androgen sensitivity caused by a mutation in the ligand-binding domain of the androgen receptor gene". J. Clin. Endocrinol. Metab. 85 (6): 2253–9. doi:10.1210/jcem.85.6.6626. PMID 10852459.

Kooy RF, Reyniers E, Storm K, Vits L, van Velzen D, de Ruiter PE, Brinkmann AO, de Paepe A, Willems PJ (July 1999). "CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation". Am. J. Med. Genet. 85 (3): 209–13. doi:10.1002/(SICI)1096-8628(19990730)85:3<209::AID-AJMG4>3.0.CO;2-2. PMID 10398229.

Audi L, Fernández-Cancio M, Carrascosa A, et al. (April 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 (4): 1876–88. doi:10.1210/jc.2009-2146. hdl:10668/1323. PMID 20150575.

Lumbroso R, Beitel LK, Vasiliou DM, Trifiro MA, Pinsky L (November 1997). "Codon-usage variants in the polymorphic (GGN)n trinucleotide repeat of the human androgen receptor gene". Hum. Genet. 101 (1): 43–6. doi:10.1007/s004390050583. PMID 9385367. S2CID 24753862.

Gottlieb B, Pinsky L, Beitel LK, Trifiro M (December 1999). "Androgen insensitivity". Am. J. Med. Genet. 89 (4): 210–7. doi:10.1002/(SICI)1096-8628(19991229)89:4<210::AID-AJMG5>3.0.CO;2-P. PMID 10727996.

Edwards A, Hammond HA, Jin L, Caskey CT, Chakraborty R (February 1992). "Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups". Genomics. 12 (2): 241–53. doi:10.1016/0888-7543(92)90371-X. PMID 1740333.

Yeh SH, Chiu CM, Chen CL, Lu SF, Hsu HC, Chen DS, Chen PJ (April 2007). "Somatic mutations at the trinucleotide repeats of androgen receptor gene in male hepatocellular carcinoma". Int. J. Cancer. 120 (8): 1610–7. doi:10.1002/ijc.22479. PMID 17230529. S2CID 22184439.

Casella R, Maduro MR, Misfud A, Lipshultz LI, Yong EL, Lamb DJ (January 2003). "Androgen receptor gene polyglutamine length is associated with testicular histology in infertile patients". J. Urol. 169 (1): 224–7. doi:10.1016/s0022-5347(05)64073-6. PMID 12478141.

Dowsing AT, Yong EL, Clark M, McLachlan RI, de Kretser DM, Trounson AO (August 1999). "Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene". Lancet. 354 (9179): 640–3. doi:10.1016/S0140-6736(98)08413-X. PMID 10466666. S2CID 1868372.

Tut TG, Ghadessy FJ, Trifiro MA, Pinsky L, Yong EL (November 1997). "Long polyglutamine tracts in the androgen receptor are associated with reduced trans-activation, impaired sperm production, and male infertility". J. Clin. Endocrinol. Metab. 82 (11): 3777–82. doi:10.1210/jcem.82.11.4385. PMID 9360540.

Lim HN, Chen H, McBride S, Dunning AM, Nixon RM, Hughes IA, Hawkins JR (March 2000). "Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinized genitalia in XY males". Hum. Mol. Genet. 9 (5): 829–34. doi:10.1093/hmg/9.5.829. PMID 10749991.

Hiort O, Holterhus PM, Horter T, Schulze W, Kremke B, Bals-Pratsch M, Sinnecker GH, Kruse K (August 2000). "Significance of mutations in the androgen receptor gene in males with idiopathic infertility". J. Clin. Endocrinol. Metab. 85 (8): 2810–5. doi:10.1210/jcem.85.8.6713. PMID 10946887. S2CID 2071030.

Kukuvitis A, Georgiou I, Bouba I, Tsirka A, Giannouli CH, Yapijakis C, Tarlatzis B, Bontis J, Lolis D, Sofikitis N, Papadimas J (June 2002). "Association of oestrogen receptor alpha polymorphisms and androgen receptor CAG trinucleotide repeats with male infertility: a study in 109 Greek infertile men". Int. J. Androl. 25 (3): 149–52. doi:10.1046/j.1365-2605.2002.00339.x. PMID 12031042.

von Eckardstein S, Syska A, Gromoll J, Kamischke A, Simoni M, Nieschlag E (June 2001). "Inverse correlation between sperm concentration and number of androgen receptor CAG repeats in normal men". J. Clin. Endocrinol. Metab. 86 (6): 2585–90. doi:10.1210/jcem.86.6.7608. hdl:11380/607795. PMID 11397858.

Rajpert-De Meyts E, Leffers H, Petersen JH, Andersen AG, Carlsen E, Jørgensen N, Skakkebaek NE (January 2002). "CAG repeat length in androgen-receptor gene and reproductive variables in fertile and infertile men". Lancet. 359 (9300): 44–6. doi:10.1016/S0140-6736(02)07280-X. PMID 11809188. S2CID 24126374.

Hiort O, Horter T, Schulze W, Kremke B, Sinnecker GH (November 1999). "Male infertility and increased risk of diseases in future generations". Lancet. 354 (9193): 1907–8. doi:10.1016/S0140-6736(05)76874-4. PMID 10584751. S2CID 44272921.

Muroya K, Sasagawa I, Suzuki Y, Nakada T, Ishii T, Ogata T (May 2001). "Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis". Mol. Hum. Reprod. 7 (5): 409–13. doi:10.1093/molehr/7.5.409. PMID 11331662.

Radpour R, Rezaee M, Tavasoly A, Solati S, Saleki A (2007). "Association of long polyglycine tracts (GGN repeats) in exon 1 of the androgen receptor gene with cryptorchidism and penile hypospadias in Iranian patients". J. Androl. 28 (1): 164–9. doi:10.2164/jandrol.106.000927. PMID 16957138.

Aschim EL, Nordenskjöld A, Giwercman A, Lundin KB, Ruhayel Y, Haugen TB, Grotmol T, Giwercman YL (October 2004). "Linkage between cryptorchidism, hypospadias, and GGN repeat length in the androgen receptor gene". J. Clin. Endocrinol. Metab. 89 (10): 5105–9. doi:10.1210/jc.2004-0293. PMID 15472213.

Rajender S, Rajani V, Gupta NJ, Chakravarty B, Singh L, Thangaraj K (2006). "No association of androgen receptor GGN repeat length polymorphism with infertility in Indian men". J. Androl. 27 (6): 785–9. doi:10.2164/jandrol.106.000166. PMID 16809273.

Yong EL, Ng SC, Roy AC, Yun G, Ratnam SS (September 1994). "Pregnancy after hormonal correction of severe spermatogenic defect due to mutation in androgen receptor gene". Lancet. 344 (8925): 826–7. doi:10.1016/S0140-6736(94)92385-X. PMID 7993455. S2CID 34571405.

Hughes IA, Houk C, Ahmed SF, Lee PA (July 2006). "Consensus statement on management of intersex disorders". Arch. Dis. Child. 91 (7): 554–63. doi:10.1136/adc.2006.098319. PMC 2082839. PMID 16624884.

Weidemann W, Peters B, Romalo G, Spindler KD, Schweikert HU (April 1998). "Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor". J. Clin. Endocrinol. Metab. 83 (4): 1173–6. doi:10.1210/jcem.83.4.4704. PMID 9543136.

Tincello DG, Saunders PT, Hodgins MB, Simpson NB, Edwards CR, Hargreaves TB, Wu FC (April 1997). "Correlation of clinical, endocrine and molecular abnormalities with in vivo responses to high-dose testosterone in patients with partial androgen insensitivity syndrome". Clin. Endocrinol. 46 (4): 497–506. doi:10.1046/j.1365-2265.1997.1140927.x. PMID 9196614. S2CID 12260831.

Nieschlag E (September 2006). "Testosterone treatment comes of age: new options for hypogonadal men". Clin. Endocrinol. 65 (3): 275–81. doi:10.1111/j.1365-2265.2006.02618.x. PMID 16918944. S2CID 39905425.

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Hughes IA, Deeb A (December 2006). "Androgen resistance". Best Pract. Res. Clin. Endocrinol. Metab. 20 (4): 577–98. doi:10.1016/j.beem.2006.11.003. PMID 17161333.

Stouffs K, Tournaye H, Liebaers I, Lissens W (2009). "Male infertility and the involvement of the X chromosome". Hum. Reprod. Update. 15 (6): 623–37. doi:10.1093/humupd/dmp023. PMID 19515807.

Yong EL, Loy CJ, Sim KS (2003). "Androgen receptor gene and male infertility". Hum. Reprod. Update. 9 (1): 1–7. doi:10.1093/humupd/dmg003. PMID 12638777.

Pinsky L, Kaufman M, Killinger DW, Burko B, Shatz D, Volpé R (September 1984). "Human minimal androgen insensitivity with normal dihydrotestosterone-binding capacity in cultured genital skin fibroblasts: evidence for an androgen-selective qualitative abnormality of the receptor". Am. J. Hum. Genet. 36 (5): 965–78. PMC 1684524. PMID 6333813.

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Mild androgen insensitivity syndrome (English Wikipedia)

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