{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,12]],"date-time":"2023-09-12T09:24:11Z","timestamp":1694510651450},"reference-count":12,"publisher":"Walter de Gruyter GmbH","issue":"9-10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Perrault syndrome is a rare genetically heterogeneous autosomal recessive group of disorders described in 1951 by Perrault as gonadal dysgenesis with deafness. Here we present a rare case of sporadic Perrault syndrome with short stature and growth hormone deficiency (GHD). Although there was a report on partial GHD in Perrault, our case is a first of its kind with documented GHD (Nishi Y, Hamamoto K, Kajiyama M, Kawamura I. The Perrault syndrome: clinical report and review. Am J Med Genet 1988;31:623\u20139). We report this case because of the rarity of keeping this condition as a differential diagnosis while evaluating for short stature with amenorrhea.<\/jats:p>","DOI":"10.1515\/jpem-2014-0292","type":"journal-article","created":{"date-parts":[[2015,9,3]],"date-time":"2015-09-03T17:03:46Z","timestamp":1441299826000},"source":"Crossref","is-referenced-by-count":2,"title":["Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder"],"prefix":"10.1515","volume":"28","author":[{"given":"Ritesh K.","family":"Agrawala","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arun K.","family":"Choudhury","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Binoy K.","family":"Mohanty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anoj K.","family":"Baliarsinha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref51","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1002\/ajmg.1320310317","article-title":"The syndrome clinical report","volume":"31","author":"Nishi","year":"1988","journal-title":"review Am J Med Genet"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1002\/ajmg.1320310317","article-title":"The syndrome clinical report","volume":"31","author":"Nishi","year":"1988","journal-title":"review Am J Med Genet"},{"key":"ref91","first-page":"67","article-title":"Two cases of Turner syndrome with deaf - mutism in two sisters Hop","author":"Perrault","year":"1951","journal-title":"Soc Med"},{"key":"ref81","first-page":"218","article-title":"rare cause for primary amenorrhea","volume":"20","author":"Noorul Ameen","year":"2012","journal-title":"Hum Reprod Sci"},{"key":"ref01","first-page":"67","article-title":"Two cases of Turner syndrome with deaf - mutism in two sisters Hop","author":"Perrault","year":"1951","journal-title":"Soc Med"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1080\/01443619964896","article-title":"Sporadic syndrome","volume":"19","author":"Nikolaou","year":"1999","journal-title":"J Obstet Gynaecol"},{"key":"ref121","article-title":"ME CA Sensorineural hearing loss associated to gonadal dysgenesis in sisters syndrome","volume":"13","author":"Cruz","year":"1992","journal-title":"Am J Otol"},{"key":"ref171","first-page":"218","article-title":"rare cause for primary amenorrhea","volume":"20","author":"Noorul Ameen","year":"2012","journal-title":"Hum Reprod Sci"},{"key":"ref21","first-page":"146","article-title":"syndrome report of four new cases and exclusion of candidate genes","author":"Marlin","year":"2008","journal-title":"review Am J Med Genet"},{"key":"ref31","article-title":"ME CA Sensorineural hearing loss associated to gonadal dysgenesis in sisters syndrome","volume":"13","author":"Cruz","year":"1992","journal-title":"Am J Otol"},{"key":"ref111","first-page":"146","article-title":"syndrome report of four new cases and exclusion of candidate genes","author":"Marlin","year":"2008","journal-title":"review Am J Med Genet"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1080\/01443619964896","article-title":"Sporadic syndrome","volume":"19","author":"Nikolaou","year":"1999","journal-title":"J Obstet Gynaecol"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2014-0292\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T01:37:57Z","timestamp":1619055477000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2014-0292\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1,1]]},"references-count":12,"journal-issue":{"issue":"9-10"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2014-0292","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2015,1,1]]}}}