{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T17:30:56Z","timestamp":1791048656140,"version":"4.1.0"},"reference-count":35,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,9,11]],"date-time":"2012-09-11T00:00:00Z","timestamp":1347321600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2012,10]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Context<\/jats:title><jats:p>The androgen receptor (<jats:styled-content style=\"fixed-case\">AR<\/jats:styled-content>) is essential for the development and maintenance of the male phenotype, and for spermatogenesis. Mutations in the <jats:styled-content style=\"fixed-case\">AR<\/jats:styled-content> gene cause a wide variety of androgen insensitivity syndromes (<jats:styled-content style=\"fixed-case\">AIS<\/jats:styled-content>), ranging from complete feminization to phenotypic males with infertility.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>We report the first birth achieved after intracytoplasmic sperm injection (<jats:styled-content style=\"fixed-case\">ICSI<\/jats:styled-content>) with sperm from an azoospermic man with an <jats:styled-content style=\"fixed-case\">AR<\/jats:styled-content> mutation associated with mild <jats:styled-content style=\"fixed-case\">AIS<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">MAIS<\/jats:styled-content>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and methods<\/jats:title><jats:p>A couple with primary infertility was referred to our centre. The man had azoospermia with testicular hypotrophy and an undervirilized phenotype despite a normal plasma testosterone level. His androgen sensitivity index and serum anti\u2010mullerian hormone (<jats:styled-content style=\"fixed-case\">AMH<\/jats:styled-content>) levels were elevated, pointing to <jats:styled-content style=\"fixed-case\">AIS<\/jats:styled-content>. Molecular analysis of the <jats:styled-content style=\"fixed-case\">AR<\/jats:styled-content> gene revealed a point mutation resulting in an <jats:styled-content style=\"fixed-case\">F<\/jats:styled-content>754<jats:styled-content style=\"fixed-case\">S<\/jats:styled-content> substitution (renumbered <jats:styled-content style=\"fixed-case\">F<\/jats:styled-content>755<jats:styled-content style=\"fixed-case\">S<\/jats:styled-content> in the 2012 <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>c<jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>ill <jats:styled-content style=\"fixed-case\">U<\/jats:styled-content>niversity <jats:styled-content style=\"fixed-case\">AR<\/jats:styled-content> gene database), in the ligand\u2010binding domain of the protein, and further analysis indicated impaired receptor function.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>After genetic counselling of the couple, oocytes were retrieved after controlled ovarian hyperstimulation, and sperm were obtained simultaneously by testicular extraction for <jats:styled-content style=\"fixed-case\">ICSI<\/jats:styled-content>. Nine embryos were obtained. Two were transferred and two were suitable for cryopreservation. A pregnancy was obtained and a healthy girl, carrying the <jats:styled-content style=\"fixed-case\">F<\/jats:styled-content>754<jats:styled-content style=\"fixed-case\">S AR<\/jats:styled-content> mutation, was born at 37\u00a0weeks of gestation. <jats:styled-content style=\"fixed-case\">AR<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">AMH<\/jats:styled-content> were detected by immunohistochemistry in the patient's testicular specimens. <jats:styled-content style=\"fixed-case\">AMH<\/jats:styled-content> immuno\u2010staining was intense in tubules without spermatogenesis and weak in those with ongoing spermatogenesis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>A healthy child can be obtained by testicular extraction and <jats:styled-content style=\"fixed-case\">ICSI<\/jats:styled-content> despite azoospermia in <jats:styled-content style=\"fixed-case\">MAIS<\/jats:styled-content>. The parents must be informed of the <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010linked transmission of the mutation to their descendants. The relationship between <jats:styled-content style=\"fixed-case\">AR<\/jats:styled-content> signalling, testicular <jats:styled-content style=\"fixed-case\">AMH<\/jats:styled-content> expression and spermatogenesis in this patient is discussed.<\/jats:p><\/jats:sec>","DOI":"10.1111\/j.1365-2265.2012.04402.x","type":"journal-article","created":{"date-parts":[[2012,4,3]],"date-time":"2012-04-03T19:22:48Z","timestamp":1333480968000},"page":"593-598","source":"Crossref","is-referenced-by-count":26,"title":["Healthy birth after testicular extraction of sperm and <scp>ICSI<\/scp> from an azoospermic man with mild androgen insensitivity syndrome caused by an androgen receptor partial loss\u2010of\u2010function mutation"],"prefix":"10.1111","volume":"77","author":[{"given":"Nathalie","family":"Massin","sequence":"first","affiliation":[{"name":"Centre d'Assistance M\u00e9dicale \u00e0 la Procr\u00e9ation Centre Hospitalier Intercommunal Universit\u00e9 Paris 12 Cr\u00e9teil 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