{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T07:34:35Z","timestamp":1768289675642,"version":"3.49.0"},"reference-count":0,"publisher":"Termedia Sp. z.o.o.","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arch Med Sci"],"published-print":{"date-parts":[[2020,9,18]]},"abstract":"Introduction<\/jats:title>Congenital hypogonadotropic hypogonadism results from a\u00a0dysfunction of the hypothalamic-pituitary-gonadal axis, which is essential for the development and function of the reproductive system. It may be associated with anosmia, referred to as Kallmann syndrome, or a\u00a0normal sense of smell. Numerous studies have proven that hypogonadotropic hypogonadism is not simply a\u00a0monogenic Mendelian disease, but that more than one gene may be involved in its pathogenesis in a\u00a0single patient. The oligogenic complex architecture underlying the disease is still largely unknown.<\/jats:p><\/jats:sec>Material and methods<\/jats:title>Targeted next-generation sequencing (NGS) was used to screen for DNA variants in a\u00a0cohort of 47 patients with congenital hypogonadotropic hypogonadism. The NGS panel consists of over 50 well-known and candidate genes, associated with hypogonadotropic state.<\/jats:p><\/jats:sec>Results<\/jats:title>Here we report the identification of new oligogenic variants in SPRY4\/SEMA3A, SRA1\/SEMA7A, CHD7\/SEMA7A, CCDC141\/POLR3B\/POLR3B, and PROKR2\/SPRY4\/NSMF. These genes are known to contribute to the phenotype of hypogonadotropic hypogonadism, yet our results point to potential new \u201cpartners\u201d underlying digenic and trigenic patterns.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>The finding supports the importance of oligogenic inheritance and demonstrates the complexity of genetic architecture in hypogonadotropic hypogonadism. It also underlines the necessity for developing fine-tuned guidelines to provide a\u00a0tool for adequate and precise sequence variant classification in non-Mendelian conditions.<\/jats:p><\/jats:sec>","DOI":"10.5114\/aoms.2020.98909","type":"journal-article","created":{"date-parts":[[2020,10,14]],"date-time":"2020-10-14T08:40:13Z","timestamp":1602664813000},"source":"Crossref","is-referenced-by-count":3,"title":["New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism"],"prefix":"10.5114","author":[{"given":"Agnieszka","family":"Gach","sequence":"first","affiliation":[{"name":"Department of Genetics, Polish Mother\u2019s Memorial Hospital Research Institute, Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iwona","family":"Pinkier","sequence":"additional","affiliation":[{"name":"Department of Genetics, Polish Mother\u2019s Memorial Hospital Research Institute, Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Urszula","family":"Wysocka","sequence":"additional","affiliation":[{"name":"Department of Genetics, Polish Mother\u2019s Memorial Hospital Research Institute, Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kinga","family":"Sa\u0142aci\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Genetics, Polish Mother\u2019s Memorial Hospital Research Institute, Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominik","family":"Salachna","sequence":"additional","affiliation":[{"name":"Department of Genetics, Polish Mother\u2019s Memorial Hospital Research Institute, Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Szarras-Czapnik","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetology, Children\u2019s Memorial Health Institute, Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandra","family":"Pietrzyk","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathomorphology, Faculty of Medicine and Health Sciences, University of Zielona Gora, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agata","family":"Sakowicz","sequence":"additional","affiliation":[{"name":"Department of Medical Biotechnology, Medical University of Lodz, Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Nykel","sequence":"additional","affiliation":[{"name":"Department of Genetics, Polish Mother\u2019s Memorial Hospital Research Institute, Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lena","family":"Rutkowska","sequence":"additional","affiliation":[{"name":"Department of Genetics, Polish Mother\u2019s Memorial Hospital Research Institute, Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magda","family":"Rybak-Krzyszkowska","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Perinatology, University Hospital in Krakow, Krakow,\nPoland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magda","family":"Socha","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Poznan University of Medical Sciences, Poznan,\nPoland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksander","family":"Jamsheer","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Poznan University of Medical Sciences, Poznan,\nPoland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucjusz","family":"Jakubowski","sequence":"additional","affiliation":[{"name":"Department of Genetics, Polish Mother\u2019s Memorial Hospital Research Institute, Lodz, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3061","published-online":{"date-parts":[[2020,9,18]]},"container-title":["Archives of Medical Science"],"original-title":[],"link":[{"URL":"https:\/\/www.archivesofmedicalscience.com\/pdf-126318-59512","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.archivesofmedicalscience.com\/pdf-126318-59512","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,29]],"date-time":"2021-10-29T14:16:32Z","timestamp":1635516992000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.archivesofmedicalscience.com\/New-findings-in-oligogenic-inheritance-of-congenital-hypogonadotropic-hypogonadism,126318,0,2.html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,18]]},"references-count":0,"alternative-id":["126318"],"URL":"https:\/\/doi.org\/10.5114\/aoms.2020.98909","relation":{},"ISSN":["1734-1922","1896-9151"],"issn-type":[{"value":"1734-1922","type":"print"},{"value":"1896-9151","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,18]]}}}