{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T15:13:30Z","timestamp":1775056410108,"version":"3.50.1"},"reference-count":4,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,6,12]],"date-time":"2024-06-12T00:00:00Z","timestamp":1718150400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"Background<\/jats:title>Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant inheritable disease caused by Fumarate hydratase (FH) gene germline mutation. It is speculated that for HRLCC infertility women with multiple uterine leiomyomas, preimplantation genetic testing may help block transmission of mutated FH gene during pregnancy.<\/jats:p><\/jats:sec>Case presentation<\/jats:title>We present the case of a 26-year-old nulligravida with a history of early-onset uterine leiomyomatosis had a heterozygous nonsense mutation [NM_000143.4 (FH): c.1027C\u2009&gt;\u2009T(p.Arg343Ter)] in the HRLLC gene. After ovulation induction and in vitro<\/jats:italic> fertilization, preimplantation genetic testing for monogenic disorders (PGT-M) on embryos revealed the absence of the pathogenic allele in two blastomeres. Uterine fibroids were identified before embryo transfer, leading to a submucosal myomectomy and long period of pituitary suppression by Gonadotropin-releasing hormone analog (GnRHa). The patient achieved a healthy live birth after the second cycle of frozen\u2013thawed embryo transfer.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>This case details the successful treatment of an infertile patient with an HRLLC family history, resulting in a healthy birth through myomectomy and PGT-M selected embryo transplantation. Our literature search indicates the first reported live birth after HRLLC-PGT-M.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fmed.2024.1400694","type":"journal-article","created":{"date-parts":[[2024,6,12]],"date-time":"2024-06-12T04:23:54Z","timestamp":1718166234000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case report: A healthy baby achieved after preimplantation genetic testing from an infertile woman with hereditary leiomyomatosis and renal cell cancer syndrome"],"prefix":"10.3389","volume":"11","author":[{"given":"Qianhui","family":"Hu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengxi","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haixia","family":"Ding","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ji","family":"Xi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meiling","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuyuan","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dandan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,6,12]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1007\/s00428-018-2292-6","article-title":"Fumarate hydratase (FH) deficiency in uterine leiomyomas: recognition by histological features versus blind immunoscreening","volume":"472","author":"Siegler","year":"2018","journal-title":"Virchows Arch"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1016\/j.xfre.2021.10.002","article-title":"How a woman's myomectomy saved her father's life: evidence of fumarate hydratase-deficient uterine leiomyoma and early detection of germline variants in fumarate hydratase","volume":"3","author":"Rivera-Cruz","year":"2022","journal-title":"F S Rep"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"2075.e1","DOI":"10.1016\/j.fertnstert.2009.11.009","article-title":"Male infertility associated with hereditary leiomyomatosis and renal cell carcinoma","volume":"93","author":"McKelvey","year":"2010","journal-title":"Fertil Steril"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"AB64","DOI":"10.1016\/j.jaad.2015.02.265","article-title":"Surveillance in hereditary leiomyomatosis and renal cell cancer (HLRCC)","volume":"72","author":"Sue May","year":"2015","journal-title":"J Am Acad Dermatol"}],"container-title":["Frontiers in Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2024.1400694\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,12]],"date-time":"2024-06-12T04:23:59Z","timestamp":1718166239000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2024.1400694\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,12]]},"references-count":4,"alternative-id":["10.3389\/fmed.2024.1400694"],"URL":"https:\/\/doi.org\/10.3389\/fmed.2024.1400694","relation":{},"ISSN":["2296-858X"],"issn-type":[{"value":"2296-858X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,12]]},"article-number":"1400694"}}