{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T14:02:54Z","timestamp":1761746574659,"version":"build-2065373602"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T00:00:00Z","timestamp":1761696000000},"content-version":"vor","delay-in-days":28,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive disorder marked by cortisol deficiency, it often presents with adrenal crises and ambiguous genitalia in 46, XX neonates. Isolated cleft palate (ICP) is a congenital defect resulting from incomplete palatal fusion. The co-occurrence of CAH and ICP is extremely rare. We report a 19-day-old Nigerian neonate with ambiguous genitalia and cleft palate. Laboratory findings revealed hyperkalaemia, hyponatremia, and metabolic acidosis, suggestive of salt-wasting CAH. Physical examination showed clitoromegaly, fused labioscrotal folds, and absent vaginal opening. Despite limited diagnostic resources, a clinical diagnosis of CAH was made, and hormone and electrolyte therapy were initiated. Multidisciplinary care was provided for both CAH and ICP. This case highlights the importance of coordinated management in rare congenital presentations and calls for further research into potential links between these anomalies.<\/jats:p>","DOI":"10.1093\/omcr\/omaf188","type":"journal-article","created":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T12:59:50Z","timestamp":1760360390000},"source":"Crossref","is-referenced-by-count":0,"title":["Neonatal presentation of congenital adrenal hyperplasia accompanied by isolated cleft palate: case report"],"prefix":"10.1093","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-8502-2064","authenticated-orcid":false,"given":"Sulymon A","family":"Saka","sequence":"first","affiliation":[{"name":"Department of Otolaryngology, Irrua Specialist Teaching Hospital , KM 87, Benin-Auchi Road, P.M.B 08, Irrua, Edo State, 310112 ,","place":["Nigeria"]},{"name":"Department of Otolaryngology, Ambrose Alli University , KM 70 Benin-Auchi Road, P.M.B 14, Ekpoma, Edo State, 310101 ,","place":["Nigeria"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,10,29]]},"reference":[{"key":"2025102907292739000_ref1","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1016\/j.jsbmb.2015.05.013","article-title":"The next 150 years of congenital adrenal hyperplasia","volume":"153","author":"Turcu","year":"2015","journal-title":"J Steroid Biochem Mol Biol"},{"key":"2025102907292739000_ref2","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1016\/S0140-6736(22)01330-7","article-title":"Congenital adrenal hyperplasia","volume":"401","author":"Auer","year":"2023","journal-title":"Lancet"},{"key":"2025102907292739000_ref3","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1097\/01.JAA.0000721644.06681.06","article-title":"An overview of cleft lip and palate","volume":"33","author":"Alois","year":"2020","journal-title":"JAAPA"},{"key":"2025102907292739000_ref4","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1597\/12-135","article-title":"Prevalence of orofacial clefts in Nigeria","volume":"51","author":"Butali","year":"2014","journal-title":"Cleft Palate Craniofac J"},{"key":"2025102907292739000_ref5","doi-asserted-by":"publisher","first-page":"178","DOI":"10.4103\/2468-6859.192291","article-title":"Congenital adrenal hyperplasia at the Lagos University teaching hospital: a 10-year review","volume":"13","author":"Oyenusi","year":"2016","journal-title":"J Clin Sci"},{"key":"2025102907292739000_ref6","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1016\/0890-6238(93)90091-K","article-title":"Synergistic embryotoxicity of combination pyrimethamine and folic acid in rats","volume":"7","author":"Chung","year":"1993","journal-title":"Reprod Toxicol"},{"key":"2025102907292739000_ref7","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1097\/OGX.0b013e318193301b","article-title":"Congenital adrenal hyperplasia because of 21-hydroxylase deficiency. A genetic disorder of interest to obstetricians and gynecologists","volume":"64","author":"Trakakis","year":"2009","journal-title":"Obstet Gynecol Surv"},{"key":"2025102907292739000_ref8","doi-asserted-by":"publisher","first-page":"516","DOI":"10.1177\/1074840717735499","article-title":"How the Child\u2019s gender matters for families having a child with congenital adrenal hyperplasia","volume":"23","author":"Fleming","year":"2017","journal-title":"J Fam Nurs"},{"key":"2025102907292739000_ref9","doi-asserted-by":"publisher","first-page":"21","DOI":"10.17458\/per.vol15.2017.rvc.prenataltreatment","article-title":"Prenatal treatment with dexamethasone in suspected congenital adrenal hyperplasia and orofacial cleft: a case report and review of the literature","volume":"15","author":"Rijk","year":"2017","journal-title":"Pediatr Endocrinol Rev"},{"key":"2025102907292739000_ref10","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/S0960-0760(99)00059-X","article-title":"Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment","volume":"69","author":"Carlson","year":"1999","journal-title":"J Steroid Biochem Mol Biol"}],"container-title":["Oxford Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2025\/10\/omaf188\/65022950\/omaf188.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2025\/10\/omaf188\/65022950\/omaf188.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T11:29:36Z","timestamp":1761737376000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/omcr\/article\/doi\/10.1093\/omcr\/omaf188\/8305640"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10]]},"references-count":10,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,10,21]]}},"URL":"https:\/\/doi.org\/10.1093\/omcr\/omaf188","relation":{},"ISSN":["2053-8855"],"issn-type":[{"value":"2053-8855","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,10]]},"published":{"date-parts":[[2025,10]]},"article-number":"omaf188"}}