{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T10:46:48Z","timestamp":1775904408374,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T00:00:00Z","timestamp":1775865600000},"content-version":"vor","delay-in-days":100,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Complete androgen insensitivity syndrome (CAIS) is caused by pathogenic variants in the androgen receptor (AR) gene that lead to a phenotypically female appearance in XY individuals. It is almost always inherited as an X\u2010linked recessive condition. Here, we present two sisters with different clinical courses. AR gene sequencing revealed identical hemizygous pathogenic variants in both sisters but not in the mother. This rare occurrence of germline mosaicism is the first described in CAIS. Germline mosaicism should be considered when \u201c\n                    <jats:italic>de novo<\/jats:italic>\n                    \u201d AR gene variants are identified. Despite the low recurrence risk, counseling would be beneficial to families so they can make well\u2010informed prenatal and reproductive plans.\n                  <\/jats:p>","DOI":"10.1155\/crig\/1224893","type":"journal-article","created":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T09:51:19Z","timestamp":1775901079000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Complete Androgen Insensitivity Syndrome (CAIS) Genetic Counseling: Navigating Germline Mosaicism Concerns"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-3603-5523","authenticated-orcid":false,"given":"Lauren M.","family":"Iacono","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul A.","family":"Levy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamar G.","family":"Baer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,4,11]]},"reference":[{"key":"e_1_2_9_1_2","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"Gottlieb B.","year":"1999"},{"key":"e_1_2_9_2_2","volume-title":"StatPearls [Internet]","author":"Singh S.","year":"2023"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(12)60071-3"},{"key":"e_1_2_9_4_2","doi-asserted-by":"publisher","DOI":"10.26355\/eurrev_201806_15272"},{"key":"e_1_2_9_5_2","first-page":"1003","article-title":"Germline and Somatic Mosaicism in the Androgen Insensitivity Syndrome: Implications for Genetic Counseling","volume":"60","author":"Boehmer A. L.","year":"1997","journal-title":"The American Journal of Human Genetics"},{"key":"e_1_2_9_6_2","doi-asserted-by":"publisher","DOI":"10.20945\/2359-3997000000031"},{"key":"e_1_2_9_7_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph16071268"},{"key":"e_1_2_9_8_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.87.1.7923"},{"key":"e_1_2_9_9_2","article-title":"Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction","volume":"12","author":"Jin P.","year":"2021","journal-title":"Frontiers in Genetics"},{"key":"e_1_2_9_10_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genet-041720-093403"},{"key":"e_1_2_9_11_2","article-title":"Parental Mosaicism for Apparent De Novo Genetic Variants: Scope, Detection, and Counseling Challenges","author":"Zemet R.","year":"2022","journal-title":"Prenatal Diagnosis"},{"key":"e_1_2_9_12_2","article-title":"Parental Germline Mosaicism in Genome-wide Phased De Novo Variants: Recurrence Risk Assessment and Implications for Precision Genetic Counselling","author":"Fran\u00e7ois Lecoquierre F.","year":"2025","journal-title":"PLoS Genetics"},{"key":"e_1_2_9_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.08.010"},{"key":"e_1_2_9_14_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-0462"},{"key":"e_1_2_9_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1394"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/1224893","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crig\/1224893","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/1224893","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T09:51:30Z","timestamp":1775901090000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crig\/1224893"}},"subtitle":[],"editor":[{"given":"Balraj","family":"Mittal","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crig\/1224893"],"URL":"https:\/\/doi.org\/10.1155\/crig\/1224893","archive":["Portico"],"relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-01-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"1224893"}}