{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T08:50:33Z","timestamp":1770886233186,"version":"3.50.1"},"reference-count":13,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,9,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2020-0678_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>5\u03b1-reductase type 2 deficiency due to biallelic <jats:italic>SRD5A2<\/jats:italic> variants is a common form of 46,XY disorders of sex development.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0678_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A Chinese neonate presented with ambiguous genitalia. He carried a homozygous likely_pathogenic <jats:italic>SRD5A2<\/jats:italic> variant (c.650C&gt;A, p.A217E). His apparently nonconsanguineous parents were heterozygotes for the variant. The variant has previously been identified in two Chinese patients. Our patient carried 14.2\u00a0Mb loss-of-heterogeneity regions distributed in the genome. The <jats:italic>SRD5A2<\/jats:italic> variant in this family was invariably coupled with two polymorphisms in exon 1 and intron 1. In the patient, blood testosterone (T)\/5\u03b1-dihydrotestosterone (5\u03b1DHT) ratios were elevated before and during mini puberty, and were higher when measured by liquid chromatography-tandem mass spectrometry (LC-MS\/MS) than measured by conventional immune assays.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0678_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This study provides evidence for the founder effect of an <jats:italic>SRD5A2<\/jats:italic> variant. Furthermore, our data indicate that there is a need to establish a new reference value for T\/5\u03b1DHT ratios using LC-MS\/MS.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2020-0678","type":"journal-article","created":{"date-parts":[[2021,6,24]],"date-time":"2021-06-24T00:26:13Z","timestamp":1624494373000},"page":"1191-1195","source":"Crossref","is-referenced-by-count":3,"title":["Genome analyses and androgen quantification for an infant with 5\u03b1-reductase type 2 deficiency"],"prefix":"10.1515","volume":"34","author":[{"given":"Kazuhisa","family":"Akiba","sequence":"first","affiliation":[{"name":"Department of Molecular Endocrinology , National Research Institute for Child Health and Development , Tokyo , Japan"},{"name":"Division of Endocrinology and Metabolism , Tokyo Metropolitan Children\u2019s Medical Center , Tokyo , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiko","family":"Aso","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Toho University Omori Medical Center , Tokyo , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukihiro","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism , Tokyo Metropolitan Children\u2019s Medical Center , Tokyo , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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"}]}],"member":"374","published-online":{"date-parts":[[2021,6,24]]},"reference":[{"key":"2021090720501745705_j_jpem-2020-0678_ref_001","doi-asserted-by":"crossref","unstructured":"Imperato-McGinley, J, Zhu, YS. 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