{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T17:48:21Z","timestamp":1760204901950,"version":"3.37.3"},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,4,21]],"date-time":"2017-04-21T00:00:00Z","timestamp":1492732800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Androgenic actions require the proper signal transmission by the androgen receptor (AR), a nuclear transcription factor. This is initially located in the cell cytoplasm and should translocates to the nucleus to interact with DNA. AR functional impairment causes diverse blockage degrees of androgenic steroid action, known as androgen insensitivity syndromes. Filamin A, a protein coded by the <jats:italic>FLNA gene<\/jats:italic>, is a co\u2010activator of various cytoplasmic factors, including AR. The mutational inactivation of the <jats:italic>FLNA gene<\/jats:italic> induces insufficiency of translocation and activation of AR. Consequently, it causes a developmental disorder of the male gonad and hypogonadism, similar to those observed in partial androgen insensitivity. We report two brothers carrying a loss\u2010of\u2010function mutation of <jats:italic>FNLA<\/jats:italic> with gonadal differentiation disorder and hypospadias. Specific staining for AR shows almost an absolute absence of these receptors in the testicular tissue. This association recommends investigating a possible mutational inactivation of the <jats:italic>FLNA gene<\/jats:italic> in patients with cryptorchidism and epididymo\u2010testicular dissociation. The study is especially indicated when the family history, more often that of the mother, is suggestive. Likewise, growth and gonadal development of all male patients carrying this genetic trait should be monitored since childhood.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38230","type":"journal-article","created":{"date-parts":[[2017,4,22]],"date-time":"2017-04-22T04:57:43Z","timestamp":1492837063000},"page":"1710-1713","source":"Crossref","is-referenced-by-count":8,"title":["Androgen receptor dysfunction as a prevalent manifestation in young male carriers of a <i>FLNA<\/i> gene mutation"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4762-7591","authenticated-orcid":false,"given":"Laura","family":"Carrera\u2010Garc\u00eda","sequence":"first","affiliation":[{"name":"Pediatric Neurology Hospital Universitario Central de Asturias University of Oviedo Oviedo Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maximiliano Francisco","family":"Rivas\u2010Crespo","sequence":"additional","affiliation":[{"name":"Endocrinology Hospital Universitario Central de Asturias University of Oviedo Oviedo Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Soledad","family":"Fern\u00e1ndez Garc\u00eda","sequence":"additional","affiliation":[{"name":"Pathology Hospital Universitario Central de Asturias University of Oviedo Oviedo Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,4,21]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0017218"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/cddis.2014.497"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200211099"},{"volume-title":"GeneReviews\u00ae [Internet]","year":"2002","author":"Chen M. 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