{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T02:50:30Z","timestamp":1747191030931,"version":"3.40.5"},"reference-count":21,"publisher":"Wiley","license":[{"start":{"date-parts":[[2022,3,27]],"date-time":"2022-03-27T00:00:00Z","timestamp":1648339200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100017575","name":"Hue University","doi-asserted-by":"crossref","award":["48BV\/21"],"award-info":[{"award-number":["48BV\/21"]}],"id":[{"id":"10.13039\/501100017575","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Endocrinology"],"published-print":{"date-parts":[[2022,3,27]]},"abstract":"<jats:p>SRD5A2 (steroid 5-alpha-reductase 2) mutation, which impairs 5\u03b1-reductase-2 enzyme activity, is among the causes of 46,XY disorders of sex development (DSD). Here, we report a rare pathogenic mutation NM_000348.4:c.485A&gt;C (NP_000339.2:p.His162Pro) of SRD5A2 gene in a compound heterozygous state first identified in a Vietnamese newborn with 5\u03b1-reductase-2 enzyme deficiency. We also first submitted this rare mutation to ClinVar database (VCV000973099.1). The patient presented with hyperpigmented labia-majora-like bifid scrotum, clitoris-like phallus, perineoscrotal hypospadias, and blind-ending vagina. The other mutation NM_000348.4:c.680G&gt;A (NP_000339.2:p.Arg227Gln) was reported previously. This compound heterozygous mutation was first detected by next-generation sequencing. By Sanger sequencing, we confirmed that the c.485A&gt;C mutation was maternal inherited, whereas the c.680G&gt;A mutation was paternal inherited. Up to date, this is the first report of this rare compound heterozygous state of SRD5A2 c.485A&gt;C and c.680G&gt;A mutations in patients with 46,XY DSD generally as well as in Vietnamese population particularly and is also the second report in the world carrying the pathogenic mutation NM_000348.4:c.485A&gt;C (NP_000339.2:p.His162Pro). Our finding has enriched the understanding of the spectrum of SRD5A2 variants and phenotypic correlation in Asian patients with 46,XY DSD.<\/jats:p>","DOI":"10.1155\/2022\/6025916","type":"journal-article","created":{"date-parts":[[2022,3,27]],"date-time":"2022-03-27T22:20:14Z","timestamp":1648419614000},"page":"1-5","source":"Crossref","is-referenced-by-count":0,"title":["An Extremely Rare SRD5A2 Gene c.485A&gt;C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam"],"prefix":"10.1155","volume":"2022","author":[{"given":"Phan Tuong Quynh","family":"Le","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, University of Medicine and Pharmacy, Hue University, Hue, Vietnam"},{"name":"Center of Prenatal and Neonatal Screening-Diagnosis, University of Medicine and Pharmacy Hospital, Hue University, Hue, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thanh Nha Uyen","family":"Le","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Medicine and Pharmacy, Hue University, Hue, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thi Thanh Binh","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Medicine and Pharmacy, Hue University, Hue, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minh Thao","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Surgical Training, University of Medicine and Pharmacy, Hue University, Hue, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3803-9472","authenticated-orcid":true,"given":"Thi Minh Thi","family":"Ha","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Medicine and Pharmacy, Hue University, Hue, Vietnam"},{"name":"Center of Prenatal and Neonatal Screening-Diagnosis, University of Medicine and Pharmacy Hospital, Hue University, Hue, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1126\/science.186.4170.1213"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1056\/nejm197410312911806"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19960503)63:1<223::aid-ajmg39>3.0.co;2-o"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1007\/s42000-018-0013-9"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-1024"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.10.3640"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1210\/edrv-14-5-577"},{"key":"8","doi-asserted-by":"crossref","DOI":"10.1007\/BF01955179","volume-title":"Molecular Genetic Analysis and Human Chorionic Gonadotropin Stimulation Tests in the Diagnosis of Prepubertal Patients with Partial 5-Reductase Deficiency","author":"O. Hiort","year":"1996"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1431"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.4103\/aja.aja_113_18"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1530\/eje-10-0930"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1324727"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-0738"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1210\/er.2019-00049"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1111\/and.13250"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105915"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1097\/00008571-200007000-00004"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.2147\/tacg.s198178"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1007\/s10508-005-4339-4"},{"key":"20","article-title":"Molecular characterization of 5-reductase type 2 deficiency and fertility in a Swedish family","volume":"83","author":"A. Nordenskj\u00f6ld","year":"1998","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2019.00173"}],"container-title":["Case Reports in Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crie\/2022\/6025916.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crie\/2022\/6025916.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crie\/2022\/6025916.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,27]],"date-time":"2022-03-27T22:20:18Z","timestamp":1648419618000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crie\/2022\/6025916\/"}},"subtitle":[],"editor":[{"given":"Toshihiro","family":"Kita","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2022,3,27]]},"references-count":21,"alternative-id":["6025916","6025916"],"URL":"https:\/\/doi.org\/10.1155\/2022\/6025916","relation":{},"ISSN":["2090-651X","2090-6501"],"issn-type":[{"type":"electronic","value":"2090-651X"},{"type":"print","value":"2090-6501"}],"subject":[],"published":{"date-parts":[[2022,3,27]]}}}