TY - JOUR AU - Warne, G. L. AU - Raza, J. PY - 2008 DA - 2008// TI - Disorders of sex development (DSDs), their presentation and management in different cultures JO - Rev Endocr Metab Disord VL - 9 UR - https://doi.org/10.1007/s11154-008-9084-2 DO - 10.1007/s11154-008-9084-2 ID - Warne2008 ER - TY - JOUR AU - Mendonca, B. B. AU - Domenice, S. AU - Arnhold, I. J. AU - Costa, E. M. PY - 2009 DA - 2009// TI - 46,XY disorders of sex development (DSD) JO - Clin Endocrinol (Oxf) VL - 70 UR - https://doi.org/10.1111/j.1365-2265.2008.03392.x DO - 10.1111/j.1365-2265.2008.03392.x ID - Mendonca2009 ER - TY - JOUR AU - Massanyi, E. Z. AU - Dicarlo, H. N. AU - Migeon, C. J. AU - Gearhart, J. P. PY - 2013 DA - 2013// TI - Review and management of 46,XY disorders of sex development JO - J Pediatr Urol VL - 9 UR - https://doi.org/10.1016/j.jpurol.2012.12.002 DO - 10.1016/j.jpurol.2012.12.002 ID - Massanyi2013 ER - TY - JOUR AU - Hughes, I. A. PY - 2008 DA - 2008// TI - Disorders of sex development: a new definition and classification JO - Best Pract Res Clin Endocrinol Metab VL - 22 UR - https://doi.org/10.1016/j.beem.2007.11.001 DO - 10.1016/j.beem.2007.11.001 ID - Hughes2008 ER - TY - JOUR AU - Wisniewski, A. B. AU - Batista, R. L. AU - Costa, E. M. F. AU - Finlayson, C. AU - Sircili, M. H. P. AU - Denes, F. T. PY - 2019 DA - 2019// TI - Management of 46,XY differences/disorders of sex development (DSD) throughout life JO - Endocr Rev VL - 40 UR - https://doi.org/10.1210/er.2019-00049 DO - 10.1210/er.2019-00049 ID - Wisniewski2019 ER - TY - JOUR AU - Nagaraja, M. R. AU - Rastogi, A. AU - Raman, R. AU - Gupta, D. K. AU - Singh, S. K. PY - 2010 DA - 2010// TI - Molecular diagnosis of 46,XY DSD and identification of a novel 8 nucleotide deletion in exon 1 of SRD5A2 gene JO - J Pediatr Endocrinol VL - 23 UR - https://doi.org/10.1515/jpem.2010.059 DO - 10.1515/jpem.2010.059 ID - Nagaraja2010 ER - TY - JOUR AU - Jaaskelainen, J. PY - 2012 DA - 2012// TI - Molecular biology of androgen insensitivity JO - Mol Cell Endocrinol VL - 352 UR - https://doi.org/10.1016/j.mce.2011.08.006 DO - 10.1016/j.mce.2011.08.006 ID - Jaaskelainen2012 ER - TY - JOUR AU - Berglund, A. AU - Johannsen, T. H. AU - Stochholm, K. AU - Viuff, M. H. AU - Fedder, J. AU - Main, K. M. PY - 2016 DA - 2016// TI - Incidence, prevalence, diagnostic delay, and clinical presentation of female 46,XY disorders of sex development JO - J Clin Endocrinol Metab VL - 101 UR - https://doi.org/10.1210/jc.2016-2248 DO - 10.1210/jc.2016-2248 ID - Berglund2016 ER - TY - JOUR AU - Ahmed, S. F. AU - Cheng, A. AU - Dovey, L. AU - Hawkins, J. R. AU - Martin, H. AU - Rownland, J. PY - 2000 DA - 2000// TI - Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome JO - J Clin Endocrinol Metab VL - 85 UR - https://doi.org/10.1210/jcem.85.2.6337 DO - 10.1210/jcem.85.2.6337 ID - Ahmed2000 ER - TY - JOUR AU - Eisermann, K. AU - Wang, D. AU - Jing, Y. AU - Pascal, L. E. AU - Wang, Z. PY - 2013 DA - 2013// TI - Androgen receptor gene mutation, rearrangement, polymorphism JO - Transl Androl Urol VL - 2 UR - https://doi.org/10.3978/j.issn.2223-4683.2013.09.15 DO - 10.3978/j.issn.2223-4683.2013.09.15 ID - Eisermann2013 ER - TY - JOUR AU - Galani, A. AU - Kitsiou-Tzeli, S. AU - Sofokleous, C. AU - Kanavakis, E. AU - Kalpini-Mavrou, A. PY - 2008 DA - 2008// TI - Androgen insensitivity syndrome: clinical features and molecular defects JO - Hormones. VL - 7 UR - https://doi.org/10.14310/horm.2002.1201 DO - 10.14310/horm.2002.1201 ID - Galani2008 ER - TY - STD TI - Listyasari NA, Robevska G, Santosa A, Bouty A, Juniarto AZ, van den Bergen J et al (2019) Genetic analysis reveals complete androgen insensitivity syndrome in female children surgically treated for inguinal hernia. J Invest Surg:1–7. https://doi.org/10.1080/08941939.2019.1602690 ID - ref12 ER - TY - JOUR AU - Gottlieb, B. AU - Beitel, L. K. AU - Trifiro, M. A. PY - 2001 DA - 2001// TI - Variable expressivity and mutation databases: the androgen receptor gene mutations database JO - Hum Mutat VL - 17 UR - https://doi.org/10.1002/humu.1113 DO - 10.1002/humu.1113 ID - Gottlieb2001 ER - TY - JOUR AU - Audi, L. AU - Fernández-Cancio, M. AU - Carrascosa, A. AU - Andaluz, P. AU - Torán, N. AU - Piró, C. PY - 2010 DA - 2010// TI - Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development JO - J Clin Endocrinol Metab VL - 95 UR - https://doi.org/10.1210/jc.2009-2146 DO - 10.1210/jc.2009-2146 ID - Audi2010 ER - TY - JOUR AU - Su, R. AU - P. Adam, M. AU - Ramsdell, L. AU - Y. Fechner, P. AU - Shnorhavorian, M. PY - 2015 DA - 2015// TI - Can the external masculinization score predict the success of genetic testing in 46,XY DSD? JO - AIMS Genet VL - 2 UR - https://doi.org/10.3934/genet.2015.2.163 DO - 10.3934/genet.2015.2.163 ID - Su2015 ER - TY - JOUR AU - Juniarto, A. Z. AU - Zwan, Y. G. AU - Santosa, A. AU - Hersmus, R. AU - Jong, F. H. AU - Olmer, R. PY - 2012 DA - 2012// TI - Application of the new classification on patients with a disorder of sex development in indonesia JO - Int J Endocrinol VL - 2012 UR - https://doi.org/10.1155/2012/237084 DO - 10.1155/2012/237084 ID - Juniarto2012 ER - TY - JOUR AU - Ahmed, S. F. AU - Achermann, J. C. AU - Arlt, W. AU - Balen, A. AU - Conway, G. AU - Edwards, Z. PY - 2016 DA - 2016// TI - Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015) JO - Clin Endocrinol (Oxf) VL - 84 UR - https://doi.org/10.1111/cen.12857 DO - 10.1111/cen.12857 ID - Ahmed2016 ER - TY - JOUR AU - Miller, S. A. AU - Dykes, D. D. AU - Polesky, H. F. PY - 1988 DA - 1988// TI - A simple salting out procedure for extracting DNA from human nucleated cells JO - Nucleic Acids Res VL - 16 UR - https://doi.org/10.1093/nar/16.3.1215 DO - 10.1093/nar/16.3.1215 ID - Miller1988 ER - TY - JOUR AU - Wildeman, M. AU - Ophuizen, E. AU - Dunnen, J. T. AU - Taschner, P. E. PY - 2008 DA - 2008// TI - Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker JO - Hum Mutat VL - 29 UR - https://doi.org/10.1002/humu.20654 DO - 10.1002/humu.20654 ID - Wildeman2008 ER - TY - JOUR AU - Elfferich, P. AU - Juniarto, A. Z. AU - Dubbink, H. J. AU - Royen, M. E. AU - Molier, M. AU - Hoogerbrugge, J. PY - 2009 DA - 2009// TI - Functional analysis of novel androgen receptor mutations in a unique cohort of indonesian patients with a disorder of sex development JO - Sex Dev VL - 3 UR - https://doi.org/10.1159/000252814 DO - 10.1159/000252814 ID - Elfferich2009 ER - TY - JOUR AU - Hiort, O. AU - Huang, Q. AU - Sinnecker, G. H. G. AU - Sadeghi-Nejad, A. AU - Kruse, K. AU - Wolfe, H. J. PY - 1993 DA - 1993// TI - Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy JO - J Clin Endocrinol Metab VL - 77 UR - https://doi.org/10.1210/jcem.77.1.8325950 DO - 10.1210/jcem.77.1.8325950 ID - Hiort1993 ER - TY - JOUR AU - Beitel, L. K. AU - Kazemi-Esfarjani, P. AU - Kaufman, M. AU - Lumbroso, R. AU - DiGeorge, A. M. AU - Killinger, D. W. PY - 1994 DA - 1994// TI - Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance JO - J Clin Invest VL - 94 UR - https://doi.org/10.1172/jci117368 DO - 10.1172/jci117368 ID - Beitel1994 ER - TY - JOUR AU - Imasaki, K. AU - Hasegawa, T. AU - Okabe, T. AU - Sakai, Y. AU - Haji, M. AU - Takayanagi, R. PY - 1994 DA - 1994// TI - Single amino acid substitution in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome associated with a thermolabile androgen receptor JO - Eur J Endocrinol VL - 130 UR - https://doi.org/10.1530/eje.0.1300569 DO - 10.1530/eje.0.1300569 ID - Imasaki1994 ER - TY - JOUR AU - Evans, B. A. J. AU - Hughes, I. A. AU - Bevan, C. L. AU - Patterson, M. N. AU - Gregory, J. W. PY - 1997 DA - 1997// TI - Phenotypic diversity in siblings with partial androgen insensitivity syndrome JO - Arch Dis Child VL - 76 UR - https://doi.org/10.1136/adc.76.6.529 DO - 10.1136/adc.76.6.529 ID - Evans1997 ER - TY - JOUR AU - Newmark, J. R. AU - Hardy, D. O. AU - Tonb, D. C. AU - Carter, B. S. AU - Epstein, J. I. AU - Isaacs, W. B. PY - 1992 DA - 1992// TI - Androgen receptor gene mutations in human prostate cancer JO - Proc Natl Acad Sci U S A VL - 89 UR - https://doi.org/10.1073/pnas.89.14.6319 DO - 10.1073/pnas.89.14.6319 ID - Newmark1992 ER - TY - JOUR AU - Sanchez, D. AU - Rosell, D. AU - Honorato, B. AU - Lopez, J. AU - Arocena, J. AU - Sanz, G. PY - 2006 DA - 2006// TI - Androgen receptor mutations are associated with Gleason score in localized prostate cancer JO - BJU Int VL - 98 UR - https://doi.org/10.1111/j.1464-410X.2006.06438.x DO - 10.1111/j.1464-410X.2006.06438.x ID - Sanchez2006 ER - TY - JOUR AU - Shawky, R. M. AU - Nour El-Din, S. M. PY - 2012 DA - 2012// TI - Profile of disorders of sexual differentiation in the Northeast region of Cairo, Egypt JO - Egypt J Med Hum VL - 13 UR - https://doi.org/10.1016/j.ejmhg.2012.03.003 DO - 10.1016/j.ejmhg.2012.03.003 ID - Shawky2012 ER - TY - JOUR AU - Ediati, A. AU - Faradz, S. M. AU - Juniarto, A. Z. AU - Ende, J. AU - Drop, S. L. AU - Dessens, A. B. PY - 2015 DA - 2015// TI - Emotional and behavioral problems in late-identified Indonesian patients with disorders of sex development JO - J Psychosom Res VL - 79 UR - https://doi.org/10.1016/j.jpsychores.2014.12.007 DO - 10.1016/j.jpsychores.2014.12.007 ID - Ediati2015 ER - TY - JOUR AU - Ediati, A. AU - Juniarto, A. Z. AU - Birnie, E. AU - Okkerse, J. AU - Wisniewski, A. AU - Drop, S. PY - 2017 DA - 2017// TI - Social stigmatisation in late identified patients with disorders of sex development in Indonesia JO - BMJ Paediatr Open VL - 1 UR - https://doi.org/10.1136/bmjpo-2017-000130 DO - 10.1136/bmjpo-2017-000130 ID - Ediati2017 ER - TY - JOUR AU - Lee, P. A. AU - Nordenstrom, A. AU - Houk, C. P. AU - Ahmed, S. F. AU - Auchus, R. AU - Baratz, A. PY - 2016 DA - 2016// TI - Global disorders of sex development update since 2006: perceptions, approach and care JO - Horm Res Paediatr VL - 85 UR - https://doi.org/10.1159/000442975 DO - 10.1159/000442975 ID - Lee2016 ER - TY - JOUR AU - Delot, E. C. AU - Papp, J. C. AU - Workgroup, D. -. T. G. AU - Sandberg, D. E. AU - Vilain, E. PY - 2017 DA - 2017// TI - Genetics of disorders of sex development: the DSD-TRN experience JO - Endocrinol Metab Clin North Am VL - 46 UR - https://doi.org/10.1016/j.ecl.2017.01.015 DO - 10.1016/j.ecl.2017.01.015 ID - Delot2017 ER - TY - JOUR AU - Raza, J. AU - Zaidi, S. Z. AU - Warne, G. L. PY - 2019 DA - 2019// TI - Management of disorders of sex development - With a focus on development of the child and adolescent through the pubertal years JO - Best Pract Res Clin Endocrinol Metab VL - 33 UR - https://doi.org/10.1016/j.beem.2019.101297 DO - 10.1016/j.beem.2019.101297 ID - Raza2019 ER - TY - JOUR AU - Ediati, A. AU - Verrips, G. H. W. AU - Juniarto, A. Z. AU - Faradz, S. M. H. AU - Drop, S. L. S. AU - Dessens, A. B. PY - 2018 DA - 2018// TI - Quality of life in late-treated patients with disorders of sex development: insights for patient-centered care JO - Front Pediatr VL - 6 UR - https://doi.org/10.3389/fped.2018.00434 DO - 10.3389/fped.2018.00434 ID - Ediati2018 ER - TY - JOUR AU - Kamanu, F. K. AU - Medvedeva, Y. A. AU - Schaefer, U. AU - Jankovic, B. R. AU - Archer, J. A. AU - Bajic, V. B. PY - 2012 DA - 2012// TI - Mutations and binding sites of human transcription factors JO - Front Genet VL - 3 UR - https://doi.org/10.3389/fgene.2012.00100 DO - 10.3389/fgene.2012.00100 ID - Kamanu2012 ER - TY - JOUR AU - Mazen, I. AU - Lumbroso, S. AU - Ghaffar, S. A. AU - Salah, N. AU - Sultan, C. PY - 2004 DA - 2004// TI - Mutation of the androgen receptor (R840S) in an Egyptian patient with partial androgen insensitivity syndrome: Review of the literature on the clinical expression of different R840 substitutions JO - J Endocrinol Invest VL - 27 UR - https://doi.org/10.1007/BF03350912 DO - 10.1007/BF03350912 ID - Mazen2004 ER - TY - JOUR AU - Boehmer, A. L. M. AU - Bruggenwirth, H. AU - Assendelft, C. AU - Otten, B. J. AU - Verleun-Mooijman, M. C. T. AU - Niermeijer, M. F. PY - 2001 DA - 2001// TI - Genotype versus phenotype in families with androgen insensitivity syndrome JO - J Clin Endocrinol Metab VL - 86 UR - https://doi.org/10.1210/jcem.86.9.7825 DO - 10.1210/jcem.86.9.7825 ID - Boehmer2001 ER - TY - JOUR AU - Ahmed, S. F. AU - Khwaja, O. AU - Hughes, I. A. PY - 2000 DA - 2000// TI - The role of a clinical score in the assessment of ambiguous genitalia JO - BJU Int VL - 85 UR - https://doi.org/10.1046/j.1464-410x.2000.00354.x DO - 10.1046/j.1464-410x.2000.00354.x ID - Ahmed2000 ER - TY - JOUR AU - Mazur, T. PY - 2005 DA - 2005// TI - Gender dysphoria and gender change in androgen insensitivity or micropenis JO - Arch Sex Behav VL - 34 UR - https://doi.org/10.1007/s10508-005-4341-x DO - 10.1007/s10508-005-4341-x ID - Mazur2005 ER - TY - JOUR AU - Ediati, A. AU - Juniarto, A. Z. AU - Birnie, E. AU - Drop, S. L. S. AU - Faradz, S. M. H. AU - Dessens, A. B. PY - 2013 DA - 2013// TI - Body image and sexuality in Indonesian adults with a disorder of sex development (DSD) JO - J Sex Res VL - 52 UR - https://doi.org/10.1080/00224499.2013.816260 DO - 10.1080/00224499.2013.816260 ID - Ediati2013 ER - TY - JOUR AU - Ahmed, S. F. AU - Bashamboo, A. AU - Lucas-Herald, A. AU - McElreavey, K. PY - 2013 DA - 2013// TI - Understanding the genetic aetiology in patients with XY DSD JO - Br Med Bull VL - 106 UR - https://doi.org/10.1093/bmb/ldt008 DO - 10.1093/bmb/ldt008 ID - Ahmed2013 ER - TY - STD TI - Hughes LA, McKay Bounford K, Webb E, Dasani P, Clokie S, Chandran H et al (2019) Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD). Endocr Connect. https://doi.org/10.1530/EC-18-0376 ID - ref41 ER - TY - JOUR AU - Eggers, S. AU - Sadedin, S. AU - Bergen, J. A. AU - Robevska, G. AU - Ohnesorg, T. AU - Hewitt, J. PY - 2016 DA - 2016// TI - Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort JO - Genome Biol VL - 17 UR - https://doi.org/10.1186/s13059-016-1105-y DO - 10.1186/s13059-016-1105-y ID - Eggers2016 ER - TY - JOUR AU - Barseghyan, H. AU - Delot, E. C. AU - Vilain, E. PY - 2018 DA - 2018// TI - New technologies to uncover the molecular basis of disorders of sex development JO - Mol Cell Endocrinol VL - 468 UR - https://doi.org/10.1016/j.mce.2018.04.003 DO - 10.1016/j.mce.2018.04.003 ID - Barseghyan2018 ER - TY - JOUR AU - Bever, Y. V. AU - Bruggenwirth, H. T. AU - Wolffenbuttel, K. P. AU - Dessens, A. B. AU - Groenenberg, I. A. L. AU - Knapen, M. PY - 2020 DA - 2020// TI - Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development JO - J Med Genet VL - 57 UR - https://doi.org/10.1136/jmedgenet-2019-106354 DO - 10.1136/jmedgenet-2019-106354 ID - Bever2020 ER -