{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T19:59:48Z","timestamp":1791662388170,"version":"4.3.4"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,1,22]],"date-time":"2025-01-22T00:00:00Z","timestamp":1737504000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82371667"],"award-info":[{"award-number":["82371667"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    An increasing number of patients utilizing in\u00a0vitro fertilization (IVF) and assisted reproductive technology (ART) are characterized as impaired or poor ovarian responders (PORs). Owing to its unclear molecular etiology, the management of patients with age\u2010related ovarian characteristics remains a controversial and complex clinical concern. Therefore, it is important to identify and understand the etiological causes behind POR to develop more effective and efficient management strategies for these patients. In this study, we report a homozygous\n                    <jats:italic>HSD17B1<\/jats:italic>\n                    (accession number:\n                    <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.ncbi.nlm.nih.gov\/nuccore\/NM_000413.4\">NM_000413<\/jats:ext-link>\n                    .4) variant (c.718\u20101G&gt;C) in a patient with POR from a consanguineous family. The proband, a 33\u2010years\u2010old woman, exhibited poor ovarian reserve prestimulation parameters (antral follicle count &lt;\u20095; anti\u2010M\u00fcllerian hormone\u2009=\u20090.386\u2009ng\/mL), resulting in the classification of this patient as patient oriented strategies encompassing individualized oocyte number (POSEIDON) group three according to the POSEIDON criteria. Additionally, this patient displayed impaired estradiol production and reduced 17\u2010ketosteroids secretion and multiple ovarian cysts, which differed from previously reported POR cases. Overall, our findings provide valuable insights for researchers and clinicians into the relationships between the phenotype and genotype of POR and the\n                    <jats:italic>HSD17B1<\/jats:italic>\n                    gene.\n                  <\/jats:p>","DOI":"10.1111\/cge.14707","type":"journal-article","created":{"date-parts":[[2025,1,22]],"date-time":"2025-01-22T05:41:42Z","timestamp":1737524502000},"page":"80-85","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A Homozygous Variant in\n                    <scp>\n                      <i>HSD17B1<\/i>\n                    <\/scp>\n                    Identified in Women With Poor Ovarian Response"],"prefix":"10.1111","volume":"108","author":[{"given":"Jingyi","family":"Ren","sequence":"first","affiliation":[{"name":"NHC Key Laboratory of Human Stem Cell and Reproductive Engineering School of Basic Medical Sciences, Central South University  ChangSha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Ouyang","sequence":"additional","affiliation":[{"name":"NHC Key Laboratory of Human Stem Cell and Reproductive Engineering School of Basic Medical Sciences, Central South University  ChangSha China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive &amp; Genetic Hospital of CITIC\u2010Xiangya  ChangSha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuangyao","family":"Wang","sequence":"additional","affiliation":[{"name":"NHC Key Laboratory of Human Stem Cell and Reproductive Engineering School of Basic Medical Sciences, Central South University  ChangSha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Gong","sequence":"additional","affiliation":[{"name":"NHC Key Laboratory of Human Stem Cell and Reproductive Engineering School of Basic Medical Sciences, Central South University  ChangSha China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive &amp; Genetic Hospital of CITIC\u2010Xiangya  ChangSha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guangxiu","family":"Lu","sequence":"additional","affiliation":[{"name":"NHC Key Laboratory of Human Stem Cell and Reproductive Engineering School of Basic Medical Sciences, Central South University  ChangSha China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive &amp; Genetic Hospital of CITIC\u2010Xiangya  ChangSha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ge","family":"Lin","sequence":"additional","affiliation":[{"name":"NHC Key Laboratory of Human Stem Cell and Reproductive Engineering School of Basic Medical Sciences, Central South University  ChangSha China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive &amp; Genetic Hospital of CITIC\u2010Xiangya  ChangSha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2595-7314","authenticated-orcid":false,"given":"Jing","family":"Guo","sequence":"additional","affiliation":[{"name":"NHC Key Laboratory of Human Stem Cell and Reproductive Engineering School of Basic Medical Sciences, Central South University  ChangSha China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive &amp; Genetic Hospital of CITIC\u2010Xiangya  ChangSha China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,1,22]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2011.09.048"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10815\u2010017\u20101058\u20104"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1472\u20106483(10)60946\u20107"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/2633494120941480"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2024.148314"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dey215"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2019\u201001276"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/ani13040622"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2018.07.003"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1158\/1055\u20109965.EPI\u201003\u20100241"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591\u2010022\u201002194\u20103"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deac026"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2018.10.029"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.14\u2010269035"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cbi.2015.01.008"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14707","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T06:27:37Z","timestamp":1762928857000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14707"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,22]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1111\/cge.14707"],"URL":"https:\/\/doi.org\/10.1111\/cge.14707","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,22]]},"assertion":[{"value":"2024-10-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}