{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T17:02:56Z","timestamp":1785603776641,"version":"3.56.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"5","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:sec>\n<jats:title><jats:italic>Objective:<\/jats:italic><\/jats:title>\n<jats:p>To determine the natural course of pubertal development, growth during puberty, and development of POI in females with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also called autoimmune polyendocrine syndrome type I.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title><jats:italic>Design:<\/jats:italic><\/jats:title>\n<jats:p>Longitudinal follow-up study.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title><jats:italic>Methods:<\/jats:italic><\/jats:title>\n<jats:p>A national cohort of females with APECED aged \u226512 years were followed during 1965\u20132018. Attainment of adult height was defined when patients\u2019 height increased less than 1 cm per year. Diagnosis of POI was based on delayed puberty or POI symptoms with amenorrhea, and\/or FSH \u226540 IU\/L.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title><jats:italic>Results:<\/jats:italic><\/jats:title>\n<jats:p>Altogether 40 women with APECED were followed up to the average age of 37.3 (range: 14.6\u201361.9) years; 16 females (40%) were \u2265 40 years. Pubertal development started spontaneously in 34 patients and 29 had spontaneous menarche. POI developed in 28 patients (70%) at the median age of 16.0 years (range: 11.3\u201336.5), and in 20 of them (71%) before attaining adult height. In 11 cases puberty was induced or completed by hormonal therapy. Patients with POI were significantly shorter at menarche, but adult heights did not differ from non-POI females. Patients with POI had more often primary adrenocortical insufficiency (93% vs 58%, <jats:italic>P<\/jats:italic> = 0.017) and ovarian antibodies (81% vs 30%, <jats:italic>P<\/jats:italic>=0.003) compared to those with normal ovarian function (<jats:italic>n<\/jats:italic> = 12).<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title><jats:italic>Conclusions:<\/jats:italic><\/jats:title>\n<jats:p>POI developed in the majority of patients with APECED, often before or shortly after menarche. Timely commencement of hormonal replacement therapy is important to ensure optimal pubertal development and growth. The possibility of fertility preservation before development of POI in APECED patients should be further studied.<\/jats:p>\n<\/jats:sec>","DOI":"10.1530\/eje-20-0516","type":"journal-article","created":{"date-parts":[[2020,8,13]],"date-time":"2020-08-13T17:12:33Z","timestamp":1597338753000},"page":"513-520","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-7","source":"Crossref","is-referenced-by-count":18,"title":["Pubertal development and premature ovarian insufficiency in patients with APECED"],"prefix":"10.1093","volume":"183","author":[{"given":"Viivi","family":"Saari","sequence":"first","affiliation":[{"name":"1Children\u2019s Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland"},{"name":"2Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elina","family":"Holopainen","sequence":"additional","affiliation":[{"name":"2Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland"},{"name":"3Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Outi","family":"M\u00e4kitie","sequence":"additional","affiliation":[{"name":"1Children\u2019s Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland"},{"name":"2Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland"},{"name":"4Folkh\u00e4lsan Research Center, Helsinki, Finland"},{"name":"5Department of Molecular Medicine and Surgery, Karolinska Institutet and Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saila","family":"Laakso","sequence":"additional","affiliation":[{"name":"1Children\u2019s Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland"},{"name":"2Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland"},{"name":"4Folkh\u00e4lsan Research Center, Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/183\/5\/EJE-20-0516.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/downloadpdf\/journals\/eje\/183\/5\/EJE-20-0516.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:15:09Z","timestamp":1676391309000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/183\/5\/513\/6653734"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11]]},"references-count":0,"journal-issue":{"issue":"5"},"URL":"https:\/\/doi.org\/10.1530\/eje-20-0516","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11]]}}}