{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T13:48:47Z","timestamp":1784900927758,"version":"3.55.0"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,4,17]],"date-time":"2021-04-17T00:00:00Z","timestamp":1618617600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,4,17]],"date-time":"2021-04-17T00:00:00Z","timestamp":1618617600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Androgen insensitivity syndrome is a rare X-linked disorder of sex development, caused by mutations in the androgen receptor. In this case, a 13-year-old child, reared as female, presenting for primary amenorrhea, was diagnosed with complete androgen insensitivity syndrome.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 13-year-old Caucasian child, reared as female, presents with primary amenorrhea. Physical examination revealed female appearance and a short vagina with blind-ended pouch. Laboratory examination showed high levels of testosterone and anti-M\u00fcllerian hormone; uterus and ovaries were absent. Karyotype confirmed a 46,XY pattern. Deoxyribonucleic acid analysis of the androgen receptor gene revealed a homozygous mutation p.R856C in exon 7. Gender was assigned as female, and she was started on hormonal therapy and underwent gonadectomy.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Androgen insensitivity syndrome comprises a large spectrum of presentations. High index of suspicion is needed. Investigation of girls with bilateral inguinal hernia is critical.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-021-02738-0","type":"journal-article","created":{"date-parts":[[2021,4,16]],"date-time":"2021-04-16T23:05:54Z","timestamp":1618614354000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Complete androgen insensitivity syndrome in a 13-year-old Lebanese child, reared as female, with bilateral inguinal hernia: a case report"],"prefix":"10.1186","volume":"15","author":[{"given":"Stephanie","family":"Farah","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana","family":"El Masri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamal","family":"Hirbli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,4,17]]},"reference":[{"key":"2738_CR1","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1016\/j.beem.2006.11.003","volume":"20","author":"IA Hughes","year":"2006","unstructured":"Hughes IA, Deeb A. Androgen resistance. Best Pract Res Clin Endocrinol Metab. 2006;20:577\u201398.","journal-title":"Best Pract Res Clin Endocrinol Metab."},{"key":"2738_CR2","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1080\/00365590802299247","volume":"43","author":"T Hurme","year":"2009","unstructured":"Hurme T, Lahdes-Vasama T, Makela E, Iber T, Toppari J. Clinical findings in prepubertal girls with inguinal hernia with special reference to the diagnosis of androgen insensitivity syndrome. Scand J Urol Nephrol. 2009;43:42\u20136.","journal-title":"Scand J Urol Nephrol."},{"issue":"6","key":"2738_CR3","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1530\/eje.1.01915","volume":"152","author":"MH Gannag\u00e9-Yared","year":"2005","unstructured":"Gannag\u00e9-Yared MH, Dod\u00e9 C, Ghanem I, et\u00a0al. Coexistence of Kallmann syndrome and complete androgen insensitivity in the same patient. Eur J Endocrinol. 2005;152(6):813\u20137. https:\/\/doi.org\/10.1530\/eje.1.01915.","journal-title":"Eur J Endocrinol."},{"issue":"1\u20132","key":"2738_CR4","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1016\/s0303-7207(01)00466-x","volume":"179","author":"AO Brinkmann","year":"2001","unstructured":"Brinkmann AO. Molecular basis of androgen insensitivity. Mol Cell Endocrinol. 2001;179(1\u20132):105\u20139. https:\/\/doi.org\/10.1016\/s0303-7207(01)00466-x ((PMID: 11420135)).","journal-title":"Mol Cell Endocrinol."},{"key":"2738_CR5","doi-asserted-by":"publisher","first-page":"554","DOI":"10.1136\/adc.2006.098319","volume":"91","author":"IA Hughes","year":"2006","unstructured":"Hughes IA, Houk C, Ahmed SF, et\u00a0al. Consensus statement on management of intersex disorders. Arch Dis Child. 2006;91:554.","journal-title":"Arch Dis Child"},{"key":"2738_CR6","first-page":"271","volume":"16","author":"CA Quigley","year":"1995","unstructured":"Quigley CA, De Bellis A, Marschke KB, El-Awady MK, Wilson EM, French FS. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev. 1995;16:271\u2013321.","journal-title":"Endocr Rev."},{"issue":"4","key":"2738_CR7","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1016\/j.beem.2015.04.005","volume":"29","author":"NP Mongan","year":"2015","unstructured":"Mongan NP, Tadokoro-Cuccaro R, Bunch T, Hughes IA. Androgen insensitivity syndrome. Best Pract Res Clin Endocrinol Metab. 2015;29(4):569\u201380. https:\/\/doi.org\/10.1016\/j.beem.2015.04.005 (Epub 2015 Apr 26 PMID: 26303084).","journal-title":"Best Pract Res Clin Endocrinol Metab."},{"key":"2738_CR8","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1136\/archdischild-2011-300584","volume":"97","author":"P Hellmann","year":"2012","unstructured":"Hellmann P, Christiansen P, Johannsen TH, et\u00a0al. Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia. Arch Dis Child. 2012;97:403.","journal-title":"Arch Dis Child"},{"key":"2738_CR9","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1016\/j.jpag.2007.09.006","volume":"21","author":"MB Oakes","year":"2008","unstructured":"Oakes MB, Eyvazzadeh AD, Quint E, Smith YR. Complete androgen insensitivity syndrome\u2014a review. J Pediatr Adolesc Gynecol. 2008;21:305\u201310.","journal-title":"J Pediatr Adolesc Gynecol."},{"issue":"1","key":"2738_CR10","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1001\/archpedi.1962.02080030084012","volume":"104","author":"SL Gans","year":"1962","unstructured":"Gans SL, Rubin CL. Apparent female infants with hernias and testes. Am J Dis Child. 1962;104(1):82\u20136. https:\/\/doi.org\/10.1001\/archpedi.1962.02080030084012.","journal-title":"Am J Dis Child."},{"key":"2738_CR11","doi-asserted-by":"publisher","first-page":"819","DOI":"10.1097\/00000658-195811000-00013","volume":"148","author":"IR Goldstein","year":"1958","unstructured":"Goldstein IR, Potts WJ. Inguinal hernia in female infants and children. Ann Surg. 1958;148:819\u201322.","journal-title":"Ann Surg"},{"key":"2738_CR12","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1016\/S0140-6736(62)91289-8","volume":"1","author":"G Jagiello","year":"1962","unstructured":"Jagiello G, Atwell JD. Prevalence of testicular feminization. Lancet. 1962;1:329.","journal-title":"Lancet"},{"key":"2738_CR13","doi-asserted-by":"publisher","unstructured":"Solari A, Groisman B, Bidondo MP, Cinca C, Alba L. S\u00edndrome de insensibilidad completa a los andr\u00f3genos: diagn\u00f3stico y caracter\u00edsticas cl\u00ednicas. Arch Argent Pediatr. 2008;106(3):265-8. Spanish. doi: https:\/\/doi.org\/10.1590\/S0325-00752008000300014. PMID: 18695842.","DOI":"10.1590\/S0325-00752008000300014"},{"issue":"3","key":"2738_CR14","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1111\/j.1464-410x.2005.05639.x","volume":"96","author":"A Deeb","year":"2005","unstructured":"Deeb A, Hughes IA. Inguinal hernia in female infants: a cue to check the sex chromosomes? BJU Int. 2005;96(3):401\u20133. https:\/\/doi.org\/10.1111\/j.1464-410x.2005.05639.x.","journal-title":"BJU Int."},{"key":"2738_CR15","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1111\/crj.12091","volume":"9","author":"S Konar","year":"2015","unstructured":"Konar S, Dasgupta D, Patra DK, De A, Mallick B. Chromosomal study is must for prepubertal girl with inguinal hernia: opportunity to diagnose complete androgen insensitivity syndrome. J Clin Diagn Res. 2015;9:1\u20133.","journal-title":"J Clin Diagn Res."},{"key":"2738_CR16","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1111\/j.1464-410X.2005.05639.x","volume":"96","author":"A Deeb","year":"2005","unstructured":"Deeb A, Hughes IA. Inguinal hernia in female infants: a cue to check the sex chromosomes. BJU Int. 2005;96:401\u20133.","journal-title":"BJU Int."},{"key":"2738_CR17","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1080\/00365590802299247","volume":"43","author":"T Hurme","year":"2009","unstructured":"Hurme T, Lahdes-Vasama T, M\u00e4kela E, Iber T, Toppari J. Clinical findings in prepubertal girls with inguinal hernia with special reference to the diagnosis of androgen insensitivity syndrome. Scand J Urol Nephrol. 2009;43:42\u20136.","journal-title":"Scand J Urol Nephrol."},{"key":"2738_CR18","first-page":"271","volume":"16","author":"CA Quigley","year":"1995","unstructured":"Quigley CA, De Bellis A, Marschke KB, El-Awady MK, Wilson EM, French FS. Androgen receptor defects (historical, clinical and molecular perspectives). Endocr Rev. 1995;16:271\u2013321.","journal-title":"Endocr Rev."},{"issue":"6","key":"2738_CR19","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1002\/humu.20044.Erratum.In:HumMutat.2004Jul;24(1):102","volume":"23","author":"B Gottlieb","year":"2004","unstructured":"Gottlieb B, Beitel LK, Wu JH, Trifiro M. The androgen receptor gene mutations database (ARDB): 2004 update. Hum Mutat. 2004;23(6):527\u201333. https:\/\/doi.org\/10.1002\/humu.20044.Erratum.In:HumMutat.2004Jul;24(1):102 (PMID: 15146455).","journal-title":"Hum Mutat."},{"issue":"11","key":"2738_CR20","doi-asserted-by":"publisher","first-page":"1909","DOI":"10.1210\/mend.6.11.1480178","volume":"6","author":"A De Bellis","year":"1992","unstructured":"De Bellis A, Quigley CA, Cariello NF, El-Awady MK, Sar M, Lane MV, Wilson EM, French FS. Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique. Mol Endocrinol. 1992;6(11):1909\u201320. https:\/\/doi.org\/10.1210\/mend.6.11.1480178 ((PMID: 1480178)).","journal-title":"Mol Endocrinol."},{"key":"2738_CR21","doi-asserted-by":"publisher","first-page":"2097","DOI":"10.1172\/JCI116093","volume":"90","author":"MJ McPhaul","year":"1992","unstructured":"McPhaul MJ, Marcelli M, Zoppi S, Wilson CM, Griffin JE, et\u00a0al. Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. J Clin Invest. 1992;90:2097\u2013101.","journal-title":"J Clin Invest."},{"issue":"6","key":"2738_CR22","doi-asserted-by":"publisher","first-page":"1822.e1","DOI":"10.1016\/j.fertnstert.2005.11.063","volume":"85","author":"J Turek-Plewa","year":"2006","unstructured":"Turek-Plewa J, Eckersdorf-Mastalerz A, Kaluzewski B, Helszer Z, Trzeciak WH. A mutation cC2812T in the androgen receptor gene resulting in Pro817Leu substitution may affect dimerization of the androgen receptor and result in androgen insensitivity syndrome. Fertil Steril. 2006;85(6):1822.e1-4. https:\/\/doi.org\/10.1016\/j.fertnstert.2005.11.063 ((PMID: 16759930)).","journal-title":"Fertil Steril."},{"key":"2738_CR23","doi-asserted-by":"publisher","first-page":"530","DOI":"10.1016\/0002-9378(89)90350-5","volume":"161","author":"WG Hurt","year":"1989","unstructured":"Hurt WG, Bodurtha JN, McCall JB, Ali MM. Seminoma in pubertal patient with androgen insensitivity syndrome. Am J Obstet Gynecol. 1989;161:530.","journal-title":"Am J Obstet Gynecol"},{"key":"2738_CR24","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1530\/acta.0.1230416","volume":"123","author":"A Cassio","year":"1990","unstructured":"Cassio A, Cacciari E, D\u2019Errico A, et\u00a0al. Incidence of intratubular germ cell neoplasia in androgen insensitivity syndrome. Acta Endocrinol (Copenh). 1990;123:416.","journal-title":"Acta Endocrinol (Copenh)"},{"key":"2738_CR25","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1016\/j.fertnstert.2009.02.087","volume":"94","author":"PB Jorgensen","year":"2010","unstructured":"Jorgensen PB, Kjartansd\u00f3ttir KR, Fedder J. Care of women with XY karyotype: a clinical practice guideline. Fertil Steril. 2010;94:105.","journal-title":"Fertil Steril"},{"key":"2738_CR26","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1038\/s41574-018-0010-8","volume":"14","author":"M Cools","year":"2018","unstructured":"Cools M, Nordenstr\u00f6m A, Robeva R, et\u00a0al. Caring for individuals with a difference of sex development (DSD): a Consensus Statement. Nat Rev Endocrinol. 2018;14:415.","journal-title":"Nat Rev Endocrinol"},{"key":"2738_CR27","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1007\/s00431-009-1086-x","volume":"169","author":"C Wiesemann","year":"2010","unstructured":"Wiesemann C, Ude-Koeller S, Sinnecker GH, Thyen U. Ethical principles and recommendations for the medical management of differences of sex development (DSD)\/intersex in children and adolescents. Eur J Pediatr. 2010;169:671.","journal-title":"Eur J Pediatr"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-021-02738-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-021-02738-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-021-02738-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,16]],"date-time":"2021-04-16T23:31:25Z","timestamp":1618615885000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-021-02738-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,17]]},"references-count":27,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["2738"],"URL":"https:\/\/doi.org\/10.1186\/s13256-021-02738-0","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4,17]]},"assertion":[{"value":"9 June 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 February 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 April 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Given that this is a case report, local institutional review board approval or ethical approval was not required as long as the patient\u2019s identity is not revealed. The legal guardian gave written, informed consent to publish this case and any accompanying images.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient\u2019s legal guardian (her mother) for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"None to declare.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"202"}}