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Ambiguous Genitalia: An Unexpected Diagnosis in a Newborn

2023-10Journal article Open access
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dc.contributor.authorLosa, Ana
dc.contributor.authorDa Silva Cardoso, Juliana
dc.contributor.authorLeite, Sara
dc.contributor.authorBarros, Ana Cristina
dc.contributor.authorGuedes, Ana
dc.contributor.authorRodrigues, Cidade
dc.contributor.authorBorges, Teresa
dc.contributor.authorOliva-Teles, Natália
dc.contributor.authorSoares, Ana Rita
dc.contributor.authorMota, Céu
dc.date.accessioned2024-06-18T10:16:08Z
dc.date.available2024-06-18T10:16:08Z
dc.date.issued2023-10
dc.description.abstractAlterations in gonad formation or function can lead to congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. These conditions are referred to as disorders of sex development (DSD) and have a heterogeneous etiology. The assessment of these children by a multidisciplinary team is crucial for an accurate diagnosis and should be initiated promptly due to the potentially life-threatening nature of congenital adrenal hyperplasia, a common cause of DSD. We present a neonate born at 39 weeks with a weak cry, slight hypotonia, poor suction reflex, peculiar facies, and ambiguous genitalia. From the study carried out, the abdominopelvic ultrasound revealed a nodular structure compatible with the left gonad. Aneuploidy screening confirmed the presence of the Y chromosome. Additionally, normal endocrinological studies and the karyotype showed a genotype compatible with cri-du-chat syndrome with partial trisomy of chromosome 3. Children with cri-du-chat syndrome characteristically exhibit a cat-like cry and distinctive facial features, along with developmental delay and intellectual disability. Duplication of 3p is a rare genetic disorder, usually associated with other chromosomal anomalies and congenital malformations, namely, of the genitalspt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationLosa A, Da Silva Cardoso J, Leite S, et al. Ambiguous Genitalia: An Unexpected Diagnosis in a Newborn. Cureus. 2023;15(10):e46328. doi:10.7759/cureus.46328pt_PT
dc.identifier.doi10.7759/cureus.46328pt_PT
dc.identifier.issn2168-8184
dc.identifier.urihttp://hdl.handle.net/10400.16/2955
dc.language.isospapt_PT
dc.peerreviewedyespt_PT
dc.publisherCureus, Inc.pt_PT
dc.relation.publisherversionOliva Telespt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subject3p duplicationpt_PT
dc.subjectambiguous genitaliapt_PT
dc.subjectcri-du-chat syndromept_PT
dc.subjectdisorders of sex developmentpt_PT
dc.subjectnewbornpt_PT
dc.titleAmbiguous Genitalia: An Unexpected Diagnosis in a Newbornpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceUnited States of Americapt_PT
oaire.citation.issue10pt_PT
oaire.citation.startPagee46328pt_PT
oaire.citation.titleCureuspt_PT
oaire.citation.volume15pt_PT
person.familyNameLosa
person.familyNameSilva Borges Gonçalves Ferreira
person.familyNameOliva Teles
person.givenNameAna
person.givenNameTeresa
person.givenNameNatália
person.identifier.ciencia-id7813-01A6-F513
person.identifier.ciencia-id591C-5555-98FF
person.identifier.orcid0000-0002-8376-377X
person.identifier.orcid0000-0002-8501-6639
person.identifier.orcid0000-0002-1295-3701
person.identifier.scopus-author-id7801574872
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication1944091d-9fa6-4921-96c3-2bdd4e8ff583
relation.isAuthorOfPublication391dd6b3-51ea-4424-b590-209e0c614dc5
relation.isAuthorOfPublication37ab5fb0-5127-4b1c-a9f1-7a45511d42f4
relation.isAuthorOfPublication.latestForDiscovery1944091d-9fa6-4921-96c3-2bdd4e8ff583

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