{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T14:12:30Z","timestamp":1740147150419,"version":"3.37.3"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2024,3,6]],"date-time":"2024-03-06T00:00:00Z","timestamp":1709683200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,3,6]],"date-time":"2024-03-06T00:00:00Z","timestamp":1709683200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Reprod. Sci."],"published-print":{"date-parts":[[2024,7]]},"DOI":"10.1007\/s43032-024-01492-0","type":"journal-article","created":{"date-parts":[[2024,3,6]],"date-time":"2024-03-06T17:02:45Z","timestamp":1709744565000},"page":"1861-1867","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis"],"prefix":"10.1007","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5717-9863","authenticated-orcid":false,"given":"Camilo E.","family":"Villarroel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan C.","family":"Zenteno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0377-9916","authenticated-orcid":false,"given":"Tania","family":"Barrag\u00e1n-Ar\u00e9valo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2521-5513","authenticated-orcid":false,"given":"Paula","family":"Leal-Anaya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Estela","family":"P\u00e9rez-Mu\u00f1oz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8863-1146","authenticated-orcid":false,"given":"Christian L.","family":"Fr\u00edas-Soria","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduardo","family":"L\u00f3pez-Corella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3150-583X","authenticated-orcid":false,"given":"Emiy","family":"Yokoyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,3,6]]},"reference":[{"issue":"1","key":"1492_CR1","doi-asserted-by":"publisher","first-page":"e254","DOI":"10.1210\/clinem\/dgab597","volume":"107","author":"SM McGlacken-Byrne","year":"2022","unstructured":"McGlacken-Byrne SM, Le Quesne Stabej P, Del Valle I, Ocaka L, Gagunashvili A, Crespo B, Moreno N, James C, Bacchelli C, Dattani MT, Williams HJ, Kelberman D, Achermann JC, Conway GS. ZSWIM7 is associated with human female meiosis and familial primary ovarian insufficiency. J Clin Endocrinol Metab. 2022;107(1):e254-63. https:\/\/doi.org\/10.1210\/clinem\/dgab597.","journal-title":"J Clin Endocrinol Metab."},{"issue":"5","key":"1492_CR2","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1677\/JME-10-0070","volume":"45","author":"L Persani","year":"2010","unstructured":"Persani L, Rossetti R, Cacciatore C. Genes involved in human premature ovarian failure. J Mol Endocrinol. 2010;45(5):257\u201379. https:\/\/doi.org\/10.1677\/JME-10-0070.","journal-title":"J Mol Endocrinol."},{"key":"1492_CR3","doi-asserted-by":"publisher","unstructured":"Ghosh S, Roy S, Halder A. Study of frequency and types of chromosomal abnormalities in phenotypically female patients with amenorrhea in Eastern Indian population. J Obstet Gynaecol Res. 2020;46(9):1627\u201338. https:\/\/doi.org\/10.1111\/jog.14318.","DOI":"10.1111\/jog.14318"},{"issue":"2","key":"1492_CR4","doi-asserted-by":"publisher","first-page":"bvz037","DOI":"10.1210\/jendso\/bvz037","volume":"4","author":"MM Fran\u00e7a","year":"2019","unstructured":"Fran\u00e7a MM, Mendonca BB. Genetics of primary ovarian insufficiency in the next-generation sequencing era. J Endocr Soc. 2019;4(2):bvz037. https:\/\/doi.org\/10.1210\/jendso\/bvz037.","journal-title":"J Endocr Soc."},{"issue":"1","key":"1492_CR5","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1016\/j.ydbio","volume":"294","author":"D Ballow","year":"2006","unstructured":"Ballow D, Meistrich ML, Matzuk M, Rajkovic A. Sohlh1 is essential for spermatogonial differentiation. Dev Biol. 2006;294(1):161\u20137. https:\/\/doi.org\/10.1016\/j.ydbio.","journal-title":"Dev Biol."},{"issue":"21","key":"1492_CR6","doi-asserted-by":"publisher","first-page":"8090","DOI":"10.1073\/pnas.0601083103","volume":"103","author":"SA Pangas","year":"2006","unstructured":"Pangas SA, Choi Y, Ballow DJ, Zhao Y, Westphal H, Matzuk MM, Rajkovic A. Oogenesis requires germ cell-specific transcriptional regulators Sohlh1 and Lhx8. Proc Natl Acad Sci U S A. 2006;103(21):8090\u20135. https:\/\/doi.org\/10.1073\/pnas.0601083103.","journal-title":"Proc Natl Acad Sci U S A."},{"issue":"5","key":"1492_CR7","doi-asserted-by":"publisher","first-page":"E808","DOI":"10.1210\/jc.2015-1150","volume":"100","author":"Y Bayram","year":"2015","unstructured":"Bayram Y, Gulsuner S, Guran T, Abaci A, Yesil G, Unal-Gulsuner H, Atay Z, Pierce SB, Gambin T, Lee M, Turan S, Bober E, Atik MM, Walsh T, Karaca E, Pehlivan D, Jhangiani SN, Muzny D, Bereket A, Buyukgebiz A, Boerwinkle E, Gibbs RA, King MC, Lupski JR. Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. J Clin Endocr Metab. 2015;100(5):E808-14. https:\/\/doi.org\/10.1210\/jc.2015-1150.","journal-title":"J Clin Endocr Metab."},{"issue":"8","key":"1492_CR8","doi-asserted-by":"publisher","first-page":"1009","DOI":"10.1097\/PAS.0000000000001687","volume":"45","author":"M Warnnissorn","year":"2021","unstructured":"Warnnissorn M, Watkins JC, Young RH. Dysgerminoma of the ovary; an analysis of 140 cases emphasizing unusual microscopic findings and resultant diagnostic problems. Am J Surg Pathol. 2021;45(8):1009\u201327. https:\/\/doi.org\/10.1097\/PAS.0000000000001687.","journal-title":"Am J Surg Pathol."},{"key":"1492_CR9","doi-asserted-by":"publisher","unstructured":"Morin J, Peard L, Saltzman AF. Gonadal malignancy in patients with differences of sex development. Transl Androl Urol. 2020;9(5):2408\u201315. https:\/\/doi.org\/10.21037\/tau-19-726.","DOI":"10.21037\/tau-19-726"},{"issue":"7","key":"1492_CR10","doi-asserted-by":"publisher","first-page":"e8990","DOI":"10.7759\/cureus.8990","volume":"12","author":"MA Raafey","year":"2020","unstructured":"Raafey MA, Abdulwaasey M, Fatima SS, Uddin Z, Tariq MU. Bilateral gonadoblastoma with dysgerminoma in a phenotypically normal female with 46XX karyotype: report of a rare case and literature review. Cureus. 2020;12(7):e8990. https:\/\/doi.org\/10.7759\/cureus.8990.","journal-title":"Cureus."},{"issue":"7","key":"1492_CR11","doi-asserted-by":"publisher","first-page":"788","DOI":"10.1002\/humu.21264","volume":"31","author":"Y Choi","year":"2010","unstructured":"Choi Y, Jeon S, Choi M, Lee M, Park M, Lee DR, Jun KY, Kwon Y, Lee OH, Song SH, Kim JY, Lee KA, Yoon TK, Rajkovic A, Shim SH. Mutations in SOHLH1 gene associate with nonobstructive azoospermia. Hum Mutat. 2010;31(7):788\u201393. https:\/\/doi.org\/10.1002\/humu.21264.","journal-title":"Hum. Mutat."},{"key":"1492_CR12","doi-asserted-by":"publisher","unstructured":"Liu M, Yang Y, Wang Y, Chen S, Shen Y. The mutation c.346-1G $$>$$ A in SOHLH1 impairs sperm production in the homozygous but not in the heterozygous condition. Hum Mol Genet. 2022;31(7):1013\u201321. https:\/\/doi.org\/10.1093\/hmg\/ddab242.","DOI":"10.1093\/hmg\/ddab242"},{"issue":"7","key":"1492_CR13","doi-asserted-by":"publisher","first-page":"e101681","DOI":"10.1371\/journal.pone.0101681","volume":"9","author":"S Toyoda","year":"2014","unstructured":"Toyoda S, Yoshimura T, Mizuta J, Miyazaki J. Auto-regulation of the Sohlh1 gene by the SOHLH2\/SOHLH1\/SP1 complex: implications for early spermatogenesis and oogenesis. PLoS One. 2014;9(7):e101681. https:\/\/doi.org\/10.1371\/journal.pone.0101681.","journal-title":"PLoS One."},{"issue":"11","key":"1492_CR14","doi-asserted-by":"publisher","first-page":"1709","DOI":"10.3390\/genes12111709","volume":"12","author":"S Mellone","year":"2021","unstructured":"Mellone S, Zavattaro M, Vurchio D, Ronzani S, Caputo M, Leone I, Prodam F, Giordano M. A long contiguous stretch of homozygosity disclosed a novel STAG3 biallelic pathogenic variant causing primary ovarian insufficiency: a case report and review of the literature. Genes (Basel). 2021;12(11):1709. https:\/\/doi.org\/10.3390\/genes12111709.","journal-title":"Genes (Basel)."},{"issue":"10","key":"1492_CR15","doi-asserted-by":"publisher","first-page":"943","DOI":"10.1056\/NEJMoa1309635","volume":"370","author":"S Caburet","year":"2014","unstructured":"Caburet S, Arboleda VA, Llano E, Overbeek PA, Barbero JL, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, Garcia-Tunon I, Fellous M, Pendas AM, Veitia RA, Vilain E. Mutant cohesin in premature ovarian failure. N Engl J Med. 2014;370(10):943\u20139. https:\/\/doi.org\/10.1056\/NEJMoa1309635.","journal-title":"N Engl J Med."},{"issue":"1","key":"1492_CR16","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/j.canep.2009.04.015","volume":"33","author":"C Giambartolomei","year":"2009","unstructured":"Giambartolomei C, Mueller CM, Greene MH, Korde LA. A mini-review of familial ovarian germ cell tumors: an additional manifestation of the familial testicular germ cell tumor syndrome. Cancer Epidemiol. 2009;33(1):31\u20136. https:\/\/doi.org\/10.1016\/j.canep.2009.04.015.","journal-title":"Cancer Epidemiol."},{"key":"1492_CR17","doi-asserted-by":"publisher","unstructured":"Husaini HAL, Soudy H, El Din Darwish A, Ahmed M, Eltigani A, Mubarak MAL, Sabaa AA, Edesa W, L-Tweigeri TA, Al-Badawi IA. Pure dysgerminoma of the ovary: a single institutional experience of 65 patients. Med Oncol. 2012;29(4):2944\u20138. https:\/\/doi.org\/10.1007\/s12032-012-0194-z.","DOI":"10.1007\/s12032-012-0194-z"},{"key":"1492_CR18","doi-asserted-by":"publisher","unstructured":"Bennett RL, French KS, Resta RG, Doyle DL. Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns. 2008;17(5):424\u201333. https:\/\/doi.org\/10.1007\/s10897-008-9169-9.","DOI":"10.1007\/s10897-008-9169-9"}],"container-title":["Reproductive Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s43032-024-01492-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s43032-024-01492-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s43032-024-01492-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,2]],"date-time":"2024-07-02T01:07:50Z","timestamp":1719882470000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s43032-024-01492-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,6]]},"references-count":18,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["1492"],"URL":"https:\/\/doi.org\/10.1007\/s43032-024-01492-0","relation":{},"ISSN":["1933-7191","1933-7205"],"issn-type":[{"type":"print","value":"1933-7191"},{"type":"electronic","value":"1933-7205"}],"subject":[],"published":{"date-parts":[[2024,3,6]]},"assertion":[{"value":"5 May 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 February 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 March 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The patient published in this paper titled DYSGERMINOMA PROBABLY DUE TO A NOVEL SOHLH1-PATHOGENIC VARIANT CAUSING FAMILIAL OVARIAN DYSGENESIS by Villarroel and cols. was not part of any active research protocol at the National Institute of Pediatrics. She is one of the patients seen in the Genetics Clinic, who is offered genetic or genomic studies, so she does not have the approval of any research or ethics committee. However, it should be noted that when taking the samples in this group of patients, the procedures are carried out with all the standards for patient care in the Genetics Clinic of this National Institute of Pediatrics, and the parents authorized the genetics studies of the family.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"The parents authorized the publication of the genetics studies of the family.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}