{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T12:41:24Z","timestamp":1778503284380,"version":"3.51.4"},"reference-count":36,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T00:00:00Z","timestamp":1527811200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/about_us\/legal\/notices"}],"funder":[{"name":"Finnish Foundation for Pediatric Research"},{"DOI":"10.13039\/100010135","name":"Finska L\u00e4kares\u00e4llskapet","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010135","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9lius Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Helsinki University Hospital Research Funds"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,7,1]]},"DOI":"10.1093\/humrep\/dey103","type":"journal-article","created":{"date-parts":[[2018,4,17]],"date-time":"2018-04-17T11:10:31Z","timestamp":1523963431000},"page":"1254-1261","source":"Crossref","is-referenced-by-count":13,"title":["Premature ovarian insufficiency and early depletion of the ovarian reserve in the monogenic Mulibrey nanism disorder"],"prefix":"10.1093","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2625-2965","authenticated-orcid":false,"given":"Susann","family":"Karlberg","sequence":"first","affiliation":[{"name":"Children\u2019s Hospital, University of Helsinki and Helsinki University Hospital, HUS, Helsinki, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aila","family":"Tiitinen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, HUS, Helsinki, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henrik","family":"Alfthan","sequence":"additional","affiliation":[{"name":"Helsinki University Hospital Laboratory (HUSLAB), HUS, Helsinki, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marita","family":"Lipsanen-Nyman","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital, University of Helsinki and Helsinki University Hospital, HUS, Helsinki, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2018,6,1]]},"reference":[{"key":"key\n\t\t\t\t20180620113746_dey103C1","doi-asserted-by":"crossref","first-page":"e932","DOI":"10.1542\/peds.2008-2491","article-title":"Recent decline in age at breast development: the Copenhagen Puberty Study","volume":"123","author":"Aksglaede","year":"2009","journal-title":"Pediatrics"},{"key":"key\n\t\t\t\t20180620113746_dey103C2","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1038\/77053","article-title":"Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism","volume":"25","author":"Avela","year":"2000","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180620113746_dey103C3","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/j.devcel.2013.05.016","article-title":"Discovering regulators of centriole biogenesis through siRNA-based functional genomics in human cells","volume":"25","author":"Balestra","year":"2013","journal-title":"Dev Cell"},{"key":"key\n\t\t\t\t20180620113746_dey103C4","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1093\/humupd\/dmu020","article-title":"Anti-M\u00fcllerian hormone: ovarian reserve testing and its potential clinical implications","volume":"20","author":"Broer","year":"2014","journal-title":"Hum Reprod Update"},{"key":"key\n\t\t\t\t20180620113746_dey103C5","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1186\/s12881-017-0453-0","article-title":"A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome","volume":"18","author":"Chen","year":"2017","journal-title":"BMC Med Genet"},{"key":"key\n\t\t\t\t20180620113746_dey103C6","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/S0378-3782(97)00073-X","article-title":"Fetal growth retardation as a cause of impaired ovarian development","volume":"51","author":"de Bruin","year":"1998","journal-title":"Early Hum Dev"},{"key":"key\n\t\t\t\t20180620113746_dey103C7","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/S0015-0282(01)02993-4","article-title":"Antim\u00fcllerian hormone serum levels: a putative marker for ovarian aging","volume":"77","author":"de Vet","year":"2002","journal-title":"Fertil Steril"},{"key":"key\n\t\t\t\t20180620113746_dey103C8","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1016\/S0140-6736(10)60355-8","article-title":"Primary ovarian insufficiency","volume":"376","author":"De Vos","year":"2010","journal-title":"Lancet"},{"key":"key\n\t\t\t\t20180620113746_dey103C9","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1093\/humrep\/dew027","article-title":"ESHRE Guideline: management of women with premature ovarian insufficiency","volume":"31","author":"European Society for Human Reproduction and Embryology (ESHRE) Guideline Group on POI","year":"2016","journal-title":"Hum Reprod"},{"key":"key\n\t\t\t\t20180620113746_dey103C10","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.fertnstert.2015.11.042","article-title":"Fertility preservation in Turner syndrome","volume":"105","author":"Grynberg","year":"2016","journal-title":"Fertil Steril"},{"key":"key\n\t\t\t\t20180620113746_dey103C11","doi-asserted-by":"crossref","first-page":"5003","DOI":"10.1210\/jc.2010-0930","article-title":"Serum levels of anti-M\u00fcllerian hormone as a marker of ovarian function in 926 healthy females from birth to adulthood and in 172 Turner syndrome patients","volume":"95","author":"Hagen","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t20180620113746_dey103C12","doi-asserted-by":"crossref","first-page":"3134","DOI":"10.1093\/humrep\/deq291","article-title":"FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty","volume":"25","author":"Hagen","year":"2010","journal-title":"Hum Reprod"},{"key":"key\n\t\t\t\t20180620113746_dey103C13","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1002\/humu.9233","article-title":"Novel mutations in the TRIM37 gene in Mulibrey Nanism","volume":"23","author":"H\u00e4m\u00e4l\u00e4inen","year":"2004","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20180620113746_dey103C14","doi-asserted-by":"crossref","first-page":"3391","DOI":"10.1210\/jcem.87.7.8657","article-title":"Reduced ovulation rate in adolescent girls born small for gestational age","volume":"87","author":"Ib\u00e1\u00f1ez","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t20180620113746_dey103C15","doi-asserted-by":"crossref","first-page":"1986","DOI":"10.1210\/jcem.87.5.8459","article-title":"Hypersecretion of FSH in infant boys and girls born small for gestational age","volume":"87","author":"Ib\u00e1\u00f1ez","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t20180620113746_dey103C16","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1086\/340256","article-title":"The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder","volume":"70","author":"Kallij\u00e4rvi","year":"2002","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180620113746_dey103C17","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.yexcr.2005.04.001","article-title":"TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase","volume":"308","author":"Kallij\u00e4rvi","year":"2005","journal-title":"Exp Cell Res"},{"key":"key\n\t\t\t\t20180620113746_dey103C18","doi-asserted-by":"crossref","first-page":"3577","DOI":"10.2337\/diabetes.54.12.3577","article-title":"Insulin resistance syndrome in subjects with mutated RING finger protein TRIM37","volume":"54","author":"Karlberg","year":"2005","journal-title":"Diabetes"},{"key":"key\n\t\t\t\t20180620113746_dey103C19","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1136\/jmg.2003.014118","article-title":"Mulibrey nanism: clinical features and diagnostic criteria","volume":"41","author":"Karlberg","year":"2004","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t20180620113746_dey103C20","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1002\/path.2538","article-title":"High frequency of tumours in Mulibrey nanism","volume":"218","author":"Karlberg","year":"2009","journal-title":"J Pathol"},{"key":"key\n\t\t\t\t20180620113746_dey103C21","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1038\/modpathol.2009.13","article-title":"Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas","volume":"22","author":"Karlberg","year":"2009","journal-title":"Mod Pathol"},{"key":"key\n\t\t\t\t20180620113746_dey103C22","doi-asserted-by":"crossref","first-page":"2559","DOI":"10.1056\/NEJM200412093512423","article-title":"Failure of sexual maturation in Mulibrey nanism","volume":"351","author":"Karlberg","year":"2004","journal-title":"N Engl J Med"},{"key":"key\n\t\t\t\t20180620113746_dey103C23","doi-asserted-by":"crossref","first-page":"3399","DOI":"10.1210\/jc.2011-1493","article-title":"Testicular failure and male infertility in the monogenic Mulibrey nanism disorder","volume":"96","author":"Karlberg","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t20180620113746_dey103C24","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1242\/bio.016246","article-title":"Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism","volume":"5","author":"Kettunen","year":"2016","journal-title":"Biol Open"},{"key":"key\n\t\t\t\t20180620113746_dey103C25","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1159\/000362414","article-title":"Activation of the hypothalamic-pituitary-gonadal axis in infancy: minipuberty","volume":"82","author":"Kuiri-H\u00e4nninen","year":"2014","journal-title":"Horm Res Paediatr"},{"key":"key\n\t\t\t\t20180620113746_dey103C26","doi-asserted-by":"crossref","first-page":"4650","DOI":"10.1210\/jc.2012-1440","article-title":"Serum anti-m\u00fcllerian hormone levels in healthy females: a nomogram ranging from infancy to adulthood","volume":"97","author":"Lie Fong","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t20180620113746_dey103C27","doi-asserted-by":"crossref","first-page":"2354","DOI":"10.1093\/humrep\/deq184","article-title":"Fertility is not altered in young adults born small for gestational age","volume":"25","author":"Meas","year":"2010","journal-title":"Hum Reprod"},{"key":"key\n\t\t\t\t20180620113746_dey103C28","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1093\/humrep\/dex089","article-title":"New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing","volume":"32","author":"Pati\u00f1o","year":"2017","journal-title":"Hum Reprod"},{"key":"key\n\t\t\t\t20180620113746_dey103C29","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.ajhg.2010.07.007","article-title":"Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome","volume":"87","author":"Pierce","year":"2010","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180620113746_dey103C30","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/0002-9378(89)90259-7","article-title":"Uterine development and endocrine relationships after menarche","volume":"161","author":"Porcu","year":"1989","journal-title":"Am J Obstet Gynecol"},{"key":"key\n\t\t\t\t20180620113746_dey103C31","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1093\/humupd\/dmv036","article-title":"Genetics of primary ovarian insufficiency: new developments and opportunities","volume":"21","author":"Qin","year":"2015","journal-title":"Hum Reprod Update"},{"key":"key\n\t\t\t\t20180620113746_dey103C32","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1016\/S0015-0282(16)53513-4","article-title":"Clinical features of young women with hypergonadotropic amenorrhea","volume":"53","author":"Rebar","year":"1990","journal-title":"Fertil Steril"},{"key":"key\n\t\t\t\t20180620113746_dey103C33","volume-title":"Growth at Adolescence","author":"Tanner","year":"1962","edition":"2nd edn"},{"key":"key\n\t\t\t\t20180620113746_dey103C34","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1038\/nrendo.2011.224","article-title":"Anti-M\u00fcllerian hormone: an ovarian reserve marker in primary ovarian insufficiency","volume":"8","author":"Visser","year":"2012","journal-title":"Nat Rev Endocrinol"},{"key":"key\n\t\t\t\t20180620113746_dey103C35","doi-asserted-by":"crossref","first-page":"2843","DOI":"10.1083\/jcb.201611170","article-title":"TRIM37, a novel E3 ligase for PEX5-mediated peroxisomal matrix protein import","volume":"216","author":"Wang","year":"2017","journal-title":"J Cell Biol"},{"key":"key\n\t\t\t\t20180620113746_dey103C36","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1016\/j.clinbiochem.2012.05.019","article-title":"Reference intervals for reproductive hormones in prepubertal children on the automated Roche cobas e 411 analyzer","volume":"45","author":"Zec","year":"2012","journal-title":"Clin Biochem"}],"container-title":["Human Reproduction"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/humrep\/article-pdf\/33\/7\/1254\/25070965\/dey103.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,31]],"date-time":"2020-10-31T21:42:21Z","timestamp":1604180541000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/humrep\/article\/33\/7\/1254\/5026280"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,1]]},"references-count":36,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2018,6,1]]},"published-print":{"date-parts":[[2018,7,1]]}},"URL":"https:\/\/doi.org\/10.1093\/humrep\/dey103","relation":{},"ISSN":["0268-1161","1460-2350"],"issn-type":[{"value":"0268-1161","type":"print"},{"value":"1460-2350","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,7]]},"published":{"date-parts":[[2018,6,1]]}}}