{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T06:41:02Z","timestamp":1695624062953},"reference-count":7,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,2,4]],"date-time":"2017-02-04T00:00:00Z","timestamp":1486166400000},"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":[[2017,3]]},"abstract":"<jats:sec><jats:label \/><jats:p>We report a novel syndromic disorder of sex development observed in three male siblings, presenting with the association of micropenis without hypospadias, cryptorchidism, very low level of antim\u00fcllerian hormone in the neonatal period, and no persistent m\u00fcllerian duct structures, suggesting a progressive regression of testicular function. The patients described here showed a striking neurological involvement including bilateral periventricular cysts observed in the anterior part of the frontal horns prenatally and increasing in size and number over time, associated with infra and supratentorial parenchymal atrophy, dilated ventricular system, corpus callosum hypoplasia, severe intellectual disability, and epilepsy. Associated features included a distinctive facies, joint contractures, retinopathy, and hearing loss. Pathological examination was consistent with testicular dysgenesis and leukoencephalopathy with spongiosis and microcalcifications. To the best of our knowledge, this disease, characterized by a recognizable pattern of malformations, has not been previously reported. An exhaustive genetic and metabolic evaluation was normal. Autosomal recessive inheritance was considered to be likely, on the basis of SNP studies. We hope that the detailed description provided here of the clinical, radiological, and pathological findings observed in this family will help to identify further unrelated patients, and ultimately, to clarify the genetic basis of this condition. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38093","type":"journal-article","created":{"date-parts":[[2017,2,4]],"date-time":"2017-02-04T06:52:48Z","timestamp":1486191168000},"page":"654-660","source":"Crossref","is-referenced-by-count":1,"title":["A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy"],"prefix":"10.1002","volume":"173","author":[{"given":"Massimiliano","family":"Rossi","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement Hospices Civils de Lyon Bron France"},{"name":"INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team Universit\u00e9 Claude Bernard Lyon 1 Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre","family":"Vasiljevic","sequence":"additional","affiliation":[{"name":"Service d'Anatomie Pathologique Hospices Civils de Lyon Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Audrey","family":"Labalme","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement Hospices Civils de Lyon Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fr\u00e9d\u00e9rique","family":"Dijoud","sequence":"additional","affiliation":[{"name":"Service d'Anatomie Pathologique Hospices Civils de Lyon Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Delphine","family":"Mallet\u2010Motak","sequence":"additional","affiliation":[{"name":"Service d'Endocrinologie Mol\u00e9culaire et Maladies Rares Hospices Civils de Lyon Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen Adina","family":"Petcu","sequence":"additional","affiliation":[{"name":"Service d'Anatomie et Cytologie Pathologiques CHU de Saint\u2010Etienne Saint\u2010Priest\u2010en\u2010Jarez France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renaud","family":"Touraine","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique, Chromosomique et Mol\u00e9culaire, Centre de R\u00e9f\u00e9rence des Anomalies du D\u00e9veloppement CHU de Saint\u2010Etienne Saint\u2010Priest\u2010en\u2010Jarez France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Vianey\u2010Saban","sequence":"additional","affiliation":[{"name":"Service des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme et D\u00e9pistage N\u00e9onatal Hospices Civils de Lyon Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurent","family":"Guibaud","sequence":"additional","affiliation":[{"name":"Service d'Imagerie P\u00e9diatrique et F\u0153tale Hospices Civils de Lyon Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Edery","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement Hospices Civils de Lyon Bron France"},{"name":"INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team Universit\u00e9 Claude Bernard Lyon 1 Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damien","family":"Sanlaville","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement Hospices Civils de Lyon Bron France"},{"name":"INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team Universit\u00e9 Claude Bernard Lyon 1 Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Morel","sequence":"additional","affiliation":[{"name":"Service d'Endocrinologie Mol\u00e9culaire et Maladies Rares Hospices Civils de Lyon Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,2,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33897"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01879.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2014.130"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2014.83"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-S1-O14"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-3690"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10350"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38093","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38093","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T06:23:19Z","timestamp":1695536599000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38093"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,4]]},"references-count":7,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["10.1002\/ajmg.a.38093"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38093","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,4]]}}}