{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T06:25:32Z","timestamp":1787120732690,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T00:00:00Z","timestamp":1783468800000},"content-version":"vor","delay-in-days":7,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Osteogenesis imperfecta (OI) is a heritable disorder of type I collagen characterized by bone fragility, blue sclerae, and short stature. Disorders of sex development (DSD) in 46,XY individuals demand comprehensive endocrine, imaging, and genetic evaluation. We report a 6\u2010year\u2010old child with recurrent low\u2010impact fractures, blue sclerae, short stature, and ambiguous genitalia. Karyotype was repeatedly reported as 46,XY. Subsequent endocrine evaluation revealed elevated follicle\u2010stimulating hormone (16.03 mIU\/mL), low luteinizing hormone (1.35 mIU\/mL), markedly reduced testosterone (&lt;\u20097\u2009ng\/dL), low dehydroepiandrosterone sulfate (&lt;\u200915\u2009\u03bcg\/dL), and androstenedione (&lt;\u20090.300\u2009ng\/mL), consistent with primary gonadal dysgenesis. Congenital adrenal hyperplasia was provisionally excluded. Whole\u2010exome sequencing identified a heterozygous pathogenic frameshift variant in COL1A1 (c.441delC; p.Gly148fs*117), confirming OI, and a heterozygous CYP11A1 variant of uncertain significance (c.119\u2009T &gt; C; p.Ile40Thr), possibly contributing to partial adrenal insufficiency and sex reversal. The patient receives annual zoledronate, calcium, and vitamin D supplementation, with ongoing multidisciplinary follow\u2010up. This represents the first reported coexistence of OI due to COL1A1 mutation with ambiguous genitalia in a 46,XY child, emphasizing the complexity of overlapping skeletal and gonadal phenotypes and the importance of longitudinal care.<\/jats:p>","DOI":"10.1002\/ccr3.73016","type":"journal-article","created":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T04:33:47Z","timestamp":1783571627000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetically Confirmed Osteogenesis Imperfecta (COL1A1) With Unexplained Ambiguous Genitalia in a 46,XY Child: An Index Case Report"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-9375-2268","authenticated-orcid":false,"given":"Harshita","family":"Agarwal","sequence":"first","affiliation":[{"name":"Institute of Post Graduate Medical Education and Research  Kolkata West Bengal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-5267-3243","authenticated-orcid":false,"given":"Tathagata","family":"Jha","sequence":"additional","affiliation":[{"name":"Medical College Kolkata  West Bengal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-7430-2881","authenticated-orcid":false,"given":"Mohammad Orooj","family":"Azmi","sequence":"additional","affiliation":[{"name":"Institute of Post Graduate Medical Education and Research  Kolkata West Bengal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-9988-4936","authenticated-orcid":false,"given":"Soumita","family":"Sarkar","sequence":"additional","affiliation":[{"name":"Institute of Post Graduate Medical Education and Research  Kolkata West Bengal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1401-9154","authenticated-orcid":false,"given":"Vinay","family":"Suresh","sequence":"additional","affiliation":[{"name":"University of Oxford  Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,8]]},"reference":[{"key":"e_1_2_11_2_1","volume-title":"StatPearls","author":"Subramanian S.","year":"2025"},{"key":"e_1_2_11_3_1","unstructured":"S.Domenice R. L.Batista A.I. J. P M. H.Sircili C.E. M. F andB. B.Mendonca \u201c46 XY Differences of Sexual Development \u201d(2000)."},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1687-9856-2013-S1-P185"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.5152\/TurkPediatriArs.2018.01822"},{"key":"e_1_2_11_6_1","unstructured":"T.Li R.Faridi W. G.Newman andT. B.Friedman \u201cPerrault Syndrome Overview \u201d(2014)."},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/endrev\/bnab017"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11154-023-09784-7"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-2230"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-1118"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.975947"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.10.1625"},{"issue":"6","key":"e_1_2_11_13_1","first-page":"95","article-title":"A Syndrome of Osteogenesis Imperfecta, Microcephaly, and Cataracts","volume":"14","author":"Buyse M.","year":"1978","journal-title":"Birth Defects Original Article Series"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.4103\/0975-2870.169920"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41574\u2010018\u20100010\u20108"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.73016","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.73016","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.73016","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T05:33:52Z","timestamp":1787117632000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.73016"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":14,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1002\/ccr3.73016"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.73016","archive":["Portico"],"relation":{"has-preprint":[{"id-type":"doi","id":"10.22541\/au.176253882.23135595\/v1","asserted-by":"object"}]},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7]]},"assertion":[{"value":"2025-11-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-01","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-08","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e73016"}}