Warne GL, Raza J (2008) Disorders of sex development (DSDs), their presentation and management in different cultures. Rev Endocr Metab Disord 9(3):227–236. https://doi.org/10.1007/s11154-008-9084-2
Article
PubMed
Google Scholar
Mendonca BB, Domenice S, Arnhold IJ, Costa EM (2009) 46,XY disorders of sex development (DSD). Clin Endocrinol (Oxf) 70(2):173–187. https://doi.org/10.1111/j.1365-2265.2008.03392.x
Article
CAS
Google Scholar
Massanyi EZ, Dicarlo HN, Migeon CJ, Gearhart JP (2013) Review and management of 46,XY disorders of sex development. J Pediatr Urol 9(3):368–379. https://doi.org/10.1016/j.jpurol.2012.12.002
Article
PubMed
Google Scholar
Hughes IA (2008) Disorders of sex development: a new definition and classification. Best Pract Res Clin Endocrinol Metab 22(1):119–134. https://doi.org/10.1016/j.beem.2007.11.001
Article
PubMed
Google Scholar
Wisniewski AB, Batista RL, Costa EMF, Finlayson C, Sircili MHP, Denes FT et al (2019) Management of 46,XY differences/disorders of sex development (DSD) throughout life. Endocr Rev 40(6):1547–1572. https://doi.org/10.1210/er.2019-00049
Article
PubMed
Google Scholar
Nagaraja MR, Rastogi A, Raman R, Gupta DK, Singh SK (2010) Molecular diagnosis of 46,XY DSD and identification of a novel 8 nucleotide deletion in exon 1 of SRD5A2 gene. J Pediatr Endocrinol 23:379–385. https://doi.org/10.1515/jpem.2010.059
Article
CAS
Google Scholar
Jaaskelainen J (2012) Molecular biology of androgen insensitivity. Mol Cell Endocrinol 352(1-2):4–12. https://doi.org/10.1016/j.mce.2011.08.006
Article
CAS
PubMed
Google Scholar
Berglund A, Johannsen TH, Stochholm K, Viuff MH, Fedder J, Main KM et al (2016) Incidence, prevalence, diagnostic delay, and clinical presentation of female 46,XY disorders of sex development. J Clin Endocrinol Metab 101(12):4532–4540. https://doi.org/10.1210/jc.2016-2248
Article
CAS
PubMed
Google Scholar
Ahmed SF, Cheng A, Dovey L, Hawkins JR, Martin H, Rownland J et al (2000) 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. https://doi.org/10.1210/jcem.85.2.6337
Article
CAS
PubMed
Google Scholar
Eisermann K, Wang D, Jing Y, Pascal LE, Wang Z (2013) Androgen receptor gene mutation, rearrangement, polymorphism. Transl Androl Urol 2(3):137–147. https://doi.org/10.3978/j.issn.2223-4683.2013.09.15
Article
PubMed
PubMed Central
Google Scholar
Galani A, Kitsiou-Tzeli S, Sofokleous C, Kanavakis E, Kalpini-Mavrou A (2008) Androgen insensitivity syndrome: clinical features and molecular defects. Hormones. 7(3):217–229. https://doi.org/10.14310/horm.2002.1201
Article
PubMed
Google Scholar
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
Gottlieb B, Beitel LK, Trifiro MA (2001) Variable expressivity and mutation databases: the androgen receptor gene mutations database. Hum Mutat 17:382–388. https://doi.org/10.1002/humu.1113
Article
CAS
PubMed
Google Scholar
Audi L, Fernández-Cancio M, Carrascosa A, Andaluz P, Torán N, Piró C et al (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):1876–1888. https://doi.org/10.1210/jc.2009-2146
Article
CAS
PubMed
Google Scholar
Su R, P. Adam M, Ramsdell L, Y. Fechner P, Shnorhavorian M (2015) Can the external masculinization score predict the success of genetic testing in 46,XY DSD? AIMS Genet 2(2):163–172. https://doi.org/10.3934/genet.2015.2.163
Article
Google Scholar
Juniarto AZ, van der Zwan YG, Santosa A, Hersmus R, de Jong FH, Olmer R et al (2012) Application of the new classification on patients with a disorder of sex development in indonesia. Int J Endocrinol 2012:237084. https://doi.org/10.1155/2012/237084
Article
PubMed
Google Scholar
Ahmed SF, Achermann JC, Arlt W, Balen A, Conway G, Edwards Z et al (2016) Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015). Clin Endocrinol (Oxf) 84(5):771–788. https://doi.org/10.1111/cen.12857
Article
Google Scholar
Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16(3):1215. https://doi.org/10.1093/nar/16.3.1215
Article
CAS
PubMed
PubMed Central
Google Scholar
Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE (2008) Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat 29(1):6–13. https://doi.org/10.1002/humu.20654
Article
CAS
PubMed
Google Scholar
Elfferich P, Juniarto AZ, Dubbink HJ, van Royen ME, Molier M, Hoogerbrugge J et al (2009) Functional analysis of novel androgen receptor mutations in a unique cohort of indonesian patients with a disorder of sex development. Sex Dev 3(5):237–244. https://doi.org/10.1159/000252814
Article
CAS
PubMed
Google Scholar
Hiort O, Huang Q, Sinnecker GHG, Sadeghi-Nejad A, Kruse K, Wolfe HJ et al (1993) Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy. J Clin Endocrinol Metab 77(1):262–266. https://doi.org/10.1210/jcem.77.1.8325950
Article
CAS
PubMed
Google Scholar
Beitel LK, Kazemi-Esfarjani P, Kaufman M, Lumbroso R, DiGeorge AM, Killinger DW et al (1994) 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. J Clin Invest 94(2):546–554. https://doi.org/10.1172/jci117368
Article
CAS
PubMed
PubMed Central
Google Scholar
Imasaki K, Hasegawa T, Okabe T, Sakai Y, Haji M, Takayanagi R et al (1994) 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. Eur J Endocrinol 130:569–574. https://doi.org/10.1530/eje.0.1300569
Article
CAS
PubMed
Google Scholar
Evans BAJ, Hughes IA, Bevan CL, Patterson MN, Gregory JW (1997) Phenotypic diversity in siblings with partial androgen insensitivity syndrome. Arch Dis Child 76:529–531. https://doi.org/10.1136/adc.76.6.529
Article
CAS
PubMed
PubMed Central
Google Scholar
Newmark JR, Hardy DO, Tonb DC, Carter BS, Epstein JI, Isaacs WB et al (1992) Androgen receptor gene mutations in human prostate cancer. Proc Natl Acad Sci U S A 89:6319–6323. https://doi.org/10.1073/pnas.89.14.6319
Article
CAS
PubMed
PubMed Central
Google Scholar
Sanchez D, Rosell D, Honorato B, Lopez J, Arocena J, Sanz G (2006) Androgen receptor mutations are associated with Gleason score in localized prostate cancer. BJU Int 98(6):1320–1325. https://doi.org/10.1111/j.1464-410X.2006.06438.x
Article
CAS
PubMed
Google Scholar
Shawky RM, Nour El-Din SM (2012) Profile of disorders of sexual differentiation in the Northeast region of Cairo, Egypt. Egypt J Med Hum 13(2):197–205. https://doi.org/10.1016/j.ejmhg.2012.03.003
Article
Google Scholar
Ediati A, Faradz SM, Juniarto AZ, van der Ende J, Drop SL, Dessens AB (2015) Emotional and behavioral problems in late-identified Indonesian patients with disorders of sex development. J Psychosom Res 79(1):76–84. https://doi.org/10.1016/j.jpsychores.2014.12.007
Article
PubMed
Google Scholar
Ediati A, Juniarto AZ, Birnie E, Okkerse J, Wisniewski A, Drop S et al (2017) Social stigmatisation in late identified patients with disorders of sex development in Indonesia. BMJ Paediatr Open 1(e000130):1–9. https://doi.org/10.1136/bmjpo-2017-000130
Article
Google Scholar
Lee PA, Nordenstrom A, Houk CP, Ahmed SF, Auchus R, Baratz A et al (2016) Global disorders of sex development update since 2006: perceptions, approach and care. Horm Res Paediatr 85(3):158–180. https://doi.org/10.1159/000442975
Article
CAS
PubMed
Google Scholar
Delot EC, Papp JC, Workgroup D-TG, Sandberg DE, Vilain E (2017) Genetics of disorders of sex development: the DSD-TRN experience. Endocrinol Metab Clin North Am 46(2):519–537. https://doi.org/10.1016/j.ecl.2017.01.015
Article
PubMed
PubMed Central
Google Scholar
Raza J, Zaidi SZ, Warne GL (2019) Management of disorders of sex development - With a focus on development of the child and adolescent through the pubertal years. Best Pract Res Clin Endocrinol Metab 33(3):101297. https://doi.org/10.1016/j.beem.2019.101297
Article
PubMed
Google Scholar
Ediati A, Verrips GHW, Juniarto AZ, Faradz SMH, Drop SLS, Dessens AB (2018) Quality of life in late-treated patients with disorders of sex development: insights for patient-centered care. Front Pediatr 6:434. https://doi.org/10.3389/fped.2018.00434
Article
PubMed
Google Scholar
Kamanu FK, Medvedeva YA, Schaefer U, Jankovic BR, Archer JA, Bajic VB (2012) Mutations and binding sites of human transcription factors. Front Genet 3:100. https://doi.org/10.3389/fgene.2012.00100
Article
CAS
PubMed
PubMed Central
Google Scholar
Mazen I, Lumbroso S, Ghaffar SA, Salah N, Sultan C (2004) 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. J Endocrinol Invest 27:57–60. https://doi.org/10.1007/BF03350912
Article
CAS
PubMed
Google Scholar
Boehmer ALM, Bruggenwirth H, van Assendelft C, Otten BJ, Verleun-Mooijman MCT, Niermeijer MF et al (2001) Genotype versus phenotype in families with androgen insensitivity syndrome. J Clin Endocrinol Metab 86(9):4151–4160. https://doi.org/10.1210/jcem.86.9.7825
Article
CAS
PubMed
Google Scholar
Ahmed SF, Khwaja O, Hughes IA (2000) The role of a clinical score in the assessment of ambiguous genitalia. BJU Int 85(1):120–124. https://doi.org/10.1046/j.1464-410x.2000.00354.x
Article
CAS
PubMed
Google Scholar
Mazur T (2005) Gender dysphoria and gender change in androgen insensitivity or micropenis. Arch Sex Behav 34(4):411–421. https://doi.org/10.1007/s10508-005-4341-x
Article
PubMed
Google Scholar
Ediati A, Juniarto AZ, Birnie E, Drop SLS, Faradz SMH, Dessens AB (2013) Body image and sexuality in Indonesian adults with a disorder of sex development (DSD). J Sex Res 52(1):15–29. https://doi.org/10.1080/00224499.2013.816260
Article
PubMed
Google Scholar
Ahmed SF, Bashamboo A, Lucas-Herald A, McElreavey K (2013) Understanding the genetic aetiology in patients with XY DSD. Br Med Bull 106:67–89. https://doi.org/10.1093/bmb/ldt008
Article
CAS
PubMed
Google Scholar
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
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J et al (2016) Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biol 17(1):243. https://doi.org/10.1186/s13059-016-1105-y
Article
CAS
PubMed
PubMed Central
Google Scholar
Barseghyan H, Delot EC, Vilain E (2018) New technologies to uncover the molecular basis of disorders of sex development. Mol Cell Endocrinol 468:60–69. https://doi.org/10.1016/j.mce.2018.04.003
Article
CAS
PubMed
PubMed Central
Google Scholar
Bever YV, Bruggenwirth HT, Wolffenbuttel KP, Dessens AB, Groenenberg IAL, Knapen M et al (2020) Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development. J Med Genet 57(9):581–589. https://doi.org/10.1136/jmedgenet-2019-106354
Article
PubMed
Google Scholar