{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T20:24:36Z","timestamp":1774643076621,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,12,20]],"date-time":"2002-12-20T00:00:00Z","timestamp":1040342400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2003,1]]},"abstract":"<jats:p>Androgen\u2010insensitivity syndrome (AIS) is a major cause of male pseudohermaphroditism (MPH). Although AIS is usually reported as a monogenic disease resulting from androgen receptor (AR) mutations, on rare occasions it has been observed as part of a multiple congenital anomaly syndrome. We report here a patient who was the first newborn girl of an unrelated couple. Shortly after birth, the diagnoses of congenital glaucoma and pyloric stenosis were made. A detailed history of the father's family revealed that nine members presented glaucoma before 40\u2003years of age. Clinical and ultrasound evaluation showed two inguinal testes, with female external genitalia and no Mullerian derivatives. The patient had a 46,XY karyotype, good testicular response to gonadotrophin stimulation and a remarkably high T\u2003:\u2003dihydrotestosterone ratio. Sequencing of the five exons of the 5\u03b1\u2010reductase type 2 gene (SRD5A2) was normal. Conversely, a <jats:italic>de novo<\/jats:italic> point mutation was found in exon 6 of the AR gene, resulting in an F804L substitution, which has never been described previously. To our knowledge, the association of complete AIS, congenital glaucoma and pyloric stenosis has also never been reported previously.<\/jats:p>","DOI":"10.1034\/j.1399-0004.2003.630109.x","type":"journal-article","created":{"date-parts":[[2003,3,11]],"date-time":"2003-03-11T11:30:48Z","timestamp":1047382248000},"page":"59-63","source":"Crossref","is-referenced-by-count":11,"title":["A novel point mutation of the androgen receptor (F804L) in an Egyptian newborn with complete androgen insensitivity associated with congenital glaucoma and hypertrophic pyloric 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