{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:50:10Z","timestamp":1747198210296,"version":"3.40.5"},"reference-count":11,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,2,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2018-0464_s_999_w2aab2b8c60b1b7b1aab1c17b1Aa\">\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Silver-Russell syndrome (SRS) is characterized by growth retardation and variable features including macrocephaly, body asymmetry, and genital manifestations such as cryptorchidism in 46,XY patients.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2018-0464_s_998_w2aab2b8c60b1b7b1aab1c17b2Aa\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>The patient was born at 39 weeks with a birth weight of 1344 g. Subtle clitoromegaly warranted a thorough evaluation, which disclosed 46,XY karyotype, bilateral undescended testes, and a rudimentary uterus. Because of severe under-virilization, the patient was assigned as female. Failure to thrive, macrocephaly, and body asymmetry led to the diagnosis of SRS, confirmed by marked hypomethylation of <jats:italic>H19\/IGF2<\/jats:italic> intergenic differentially methylated region (IG-DMR). From age 9 years, progressive virilization occurred, which necessitated luteinizing hormone-releasing hormone analog (LHRHa) treatment. Gonadal resection at 15 years revealed immature testes with mostly Sertoli-cell-only tubules. Panel analysis for 46,XY-differences of sex development (DSD) failed to detect any pathogenic variants.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2018-0464_s_997_w2aab2b8c60b1b7b1aab1c17b3Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This is the second reported case of molecularly proven 46,XY SRS accompanied by severe under-virilization. SRS should be included in the differential diagnosis of 46,XY-DSD.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2018-0464","type":"journal-article","created":{"date-parts":[[2019,2,7]],"date-time":"2019-02-07T09:03:06Z","timestamp":1549530186000},"page":"191-196","source":"Crossref","is-referenced-by-count":0,"title":["Severe <i>in utero<\/i> under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation"],"prefix":"10.1515","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4747-3983","authenticated-orcid":false,"given":"Masanori","family":"Adachi","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism , Kanagawa Children\u2019s Medical Center , Yokohama , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9971-4035","authenticated-orcid":false,"given":"Maki","family":"Fukami","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology , National Research Institute for Child Health and Development , Tokyo , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masayo","family":"Kagami","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology , National Research Institute for Child Health and Development , Tokyo , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Sho","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychiatry , Kanagawa Children\u2019s Medical Center , Yokohama , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuichiro","family":"Yamazaki","sequence":"additional","affiliation":[{"name":"Department of Urology , Kanagawa Children\u2019s Medical Center , Yokohama , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukichi","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Division of Diagnostic Pathology , Kanagawa Children\u2019s Medical Center , Yokohama , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yumi","family":"Asakura","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism , Kanagawa Children\u2019s Medical Center , Yokohama , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junko","family":"Hanakawa","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism , Kanagawa Children\u2019s Medical Center , Yokohama , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koji","family":"Muroya","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism , Kanagawa Children\u2019s Medical Center , Yokohama , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2019,1,24]]},"reference":[{"key":"2023040100395063536_j_jpem-2018-0464_ref_001_w2aab2b8c60b1b7b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Wakeling EL, Brioude F, Lokulo-Sodipe O, O\u2019Connell SM, Salem J, et al. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol 2017;13:105\u201324.","DOI":"10.1038\/nrendo.2016.138"},{"key":"2023040100395063536_j_jpem-2018-0464_ref_002_w2aab2b8c60b1b7b1ab2b1b2Aa","doi-asserted-by":"crossref","unstructured":"Bruce S, Hannula-Jouppi K, Peltonen J, Kere J, Lipsanen-Nyman M. Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies. J Clin Endocrinol Metab 2009;94:579\u201387.","DOI":"10.1210\/jc.2008-1805"},{"key":"2023040100395063536_j_jpem-2018-0464_ref_003_w2aab2b8c60b1b7b1ab2b1b3Aa","doi-asserted-by":"crossref","unstructured":"Yamoto K, Saitsu H, Nakagawa N, Nakajima H, Hasegawa T, et al. De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly. 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