{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T20:46:03Z","timestamp":1789159563936,"version":"build-2803163510"},"reference-count":23,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T00:00:00Z","timestamp":1741564800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T00:00:00Z","timestamp":1741564800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"abstract":"<jats:p>Introduction: Non-classic lipoid congenital adrenal hyperplasia (LCAH) presents with adrenal insufficiency but typically lacks a gonadal phenotype or features a delayed-onset gonadal presentation. Information on fertility outcomes in affected individuals is limited. Case Presentation: We describe an adult male with severe, early onset primary adrenal insufficiency, yet normal fertility, diagnosed in mid-adulthood with compound heterozygous STAR gene variants, including both known and novel mutations. The identified variants, c.814C&gt;T (p.Arg272Cys) and c.743A&gt;C (p.Lys248Thr), underwent structural and functional analysis, revealing partial enzymatic activity. A review of existing reports on the gonadal phenotype and fertility in non-classic LCAH identified only nine adult males. Among these, five exhibited normal gonadal function, but none had documented paternity. Conclusion: STAR variants may be present in adults with unresolved primary adrenal insufficiency and normal gonadal function. Infertility is not an inevitable outcome, as demonstrated by this case.<\/jats:p>","DOI":"10.1159\/000545063","type":"journal-article","created":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T13:01:52Z","timestamp":1741611712000},"page":"647-654","source":"Crossref","is-referenced-by-count":3,"title":["Fertility in Non-Classic Lipoid CAH: A Case Report and Review of the Literature"],"prefix":"10.1159","volume":"99","author":[{"given":"Emre Murat","family":"Altinkilic","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7890-8201","authenticated-orcid":false,"given":"Camilla","family":"Mains Balle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5480-7956","authenticated-orcid":false,"given":"Clarissa Daniela","family":"Voegel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Therina","family":"du Toit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8331-5902","authenticated-orcid":false,"given":"Amit V.","family":"Pandey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5924-1720","authenticated-orcid":false,"given":"Claus H.","family":"Gravholt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4568-5504","authenticated-orcid":false,"given":"Christa E.","family":"Fl\u00fcck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2025,3,10]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1530\/JOE-24-0078"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/s12020-015-0715-6"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199612193352503"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-3250"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-17-0027"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210\/jendso\/bvab086"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.86.8.7748"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-0467"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.2119\/molmed.2017.00023"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2018-01752"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1210\/js.2019-00086"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/75192"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0019521"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/prot.20251"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/jcc.21334"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1021\/acs.jcim.1c00203"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0020178"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0720s76"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg509"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.11.4778"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1007\/s00216-022-03881-3"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1111\/cen.15032"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/hrp\/article-pdf\/doi\/10.1159\/000545063\/4349775\/000545063.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000545063","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T16:01:09Z","timestamp":1783958469000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000545063"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,10]]},"references-count":23,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2026,7,13]]},"published-print":{"date-parts":[[2026,7,22]]}},"URL":"https:\/\/doi.org\/10.1159\/000545063","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.28553027","asserted-by":"subject"}]},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,10]]}}}