{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T04:13:49Z","timestamp":1769573629993,"version":"3.49.0"},"reference-count":11,"publisher":"The Endocrine Society","issue":"6","license":[{"start":{"date-parts":[[2024,6,6]],"date-time":"2024-06-06T00:00:00Z","timestamp":1717632000000},"content-version":"vor","delay-in-days":13,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Charles University research program Cooperatio Paediatrics"},{"name":"Charles University, Third Faculty of Medicine, Prague"},{"name":"Clinical Trial Scholar award from West Midlands CLRN"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,5,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>OMIM 273750 (3-M) syndrome is a rare cause of severe short stature with variable dysmorphic features caused by pathogenic variants in several genes including cullin7 gene (CUL7). Hypogonadism and hypospadias have been described in only a few males. We report a patient with CUL7 pathogenic variant who had bifid scrotum and perineal hypospadias at birth. He entered puberty spontaneously at age 12 years and appropriately completed pubertal development by 15 years. Subsequently, a regression of testicular volumes, increased gonadotropin levels, and reduced (although normal) testosterone levels were observed. This case highlights the importance of careful pubertal monitoring as pubertal dysfunction may be associated with 3-M syndrome.<\/jats:p>","DOI":"10.1210\/jcemcr\/luae084","type":"journal-article","created":{"date-parts":[[2024,6,6]],"date-time":"2024-06-06T10:24:52Z","timestamp":1717669492000},"source":"Crossref","is-referenced-by-count":2,"title":["Gonadal Failure in a Male With 3-M Syndrome"],"prefix":"10.1210","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9783-9256","authenticated-orcid":false,"given":"Irena","family":"Aldhoon-Hainerova","sequence":"first","affiliation":[{"name":"Department of Children and Adolescents, Faculty Hospital Kralovske Vinohrady, Third Faculty of Medicine, Charles University , 100 34 Prague 10 , Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Baranowski","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology and Diabetes, Birmingham Women\u00b4s and Children\u00b4s Hospital , B4 6NH Birmingham , UK"},{"name":"Institute of Metabolism and Systems Research, University of Birmingham , B15 2TT Birmingham , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esther","family":"Kinning","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Birmingham Women\u00b4s and Children\u00b4s Hospital , B15 2TG Birmingham , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5743-1077","authenticated-orcid":false,"given":"Renuka P","family":"Dias","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology and Diabetes, Birmingham Women\u00b4s and Children\u00b4s Hospital , B4 6NH Birmingham , UK"},{"name":"Institute of Metabolism and Systems Research, University of Birmingham , B15 2TT Birmingham , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2024,6,6]]},"reference":[{"issue":"3","key":"2024062702125084100_luae084-B1","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1530\/JME-12-0034","article-title":"Mutations in CUL7, OBSL1, and CCDC8 in 3-M syndrome lead to disordered growth factor signaling","volume":"49","author":"Hanson","year":"2012","journal-title":"J Mol Endocrinol"},{"key":"2024062702125084100_luae084-B2","volume-title":"GeneReviews\u00ae [Internet]","author":"Irving"},{"issue":"7","key":"2024062702125084100_luae084-B3","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1002\/ajmg.a.61154","article-title":"Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3 M syndrome","volume":"179","author":"Simsek-Kiper","year":"2019","journal-title":"Am J Med Genet A"},{"issue":"1","key":"2024062702125084100_luae084-B4","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/1824-7288-39-21","article-title":"3-M syndrome associated with growth hormone deficiency: 18-year follow-up of a patient","volume":"39","author":"Meazza","year":"2013","journal-title":"Ital J Pediatr"},{"issue":"4","key":"2024062702125084100_luae084-B5","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1530\/EC-13-0065","article-title":"3-M syndrome: a growth disorder associated with IGF2 silencing","volume":"2","author":"Murray","year":"2013","journal-title":"Endocr Connect"},{"issue":"3","key":"2024062702125084100_luae084-B6","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1111\/j.1365-2265.2012.04428.x","article-title":"Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination","volume":"77","author":"Clayton","year":"2012","journal-title":"Clin Endocrinol (Oxford)"},{"issue":"12","key":"2024062702125084100_luae084-B7","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1136\/jmg.2007.051979","article-title":"Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia","volume":"44","author":"Maksimova","year":"2007","journal-title":"J Med Genet"},{"issue":"4","key":"2024062702125084100_luae084-B8","doi-asserted-by":"crossref","first-page":"e0153843","DOI":"10.1371\/journal.pone.0153843","article-title":"A normative model of serum inhibin B in young males","volume":"11","author":"Kelsey","year":"2016","journal-title":"PLoS One"},{"key":"2024062702125084100_luae084-B9","first-page":"150012","article-title":"3-M syndrome: a novel CUL7 mutation associated with respiratory distress and a good response to GH therapy","volume":"2015","author":"Deeb","year":"2015","journal-title":"Endocrinol Diabetes Metab Case Rep"},{"issue":"12","key":"2024062702125084100_luae084-B10","first-page":"4059","article-title":"Inhibin B as a serum marker of spermatogenesis: correlation to differences in sperm concentration and follicle-stimulating hormone levels. A study of 349 Danish men","volume":"82","author":"Jensen","year":"1997","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2024062702125084100_luae084-B11","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.jpeds.2012.07.055","article-title":"Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder","volume":"162","author":"Dauber","year":"2013","journal-title":"J Pediatr"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/2\/6\/luae084\/58340789\/luae084.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/2\/6\/luae084\/58340789\/luae084.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,27]],"date-time":"2024-06-27T02:13:11Z","timestamp":1719454391000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luae084\/7688615"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,24]]},"references-count":11,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,5,24]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luae084","relation":{},"ISSN":["2755-1520"],"issn-type":[{"value":"2755-1520","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,6]]},"published":{"date-parts":[[2024,5,24]]},"article-number":"luae084"}}