An Infant With DHX37 Variant: A Novel Etiology of 46,XY DSD and Literature Review
Yilmaz R, Hittelman A, Vash-Margita A, Dinauer C, Weinzimer S, Gujral J. An Infant With DHX37 Variant: A Novel Etiology of 46,XY DSD and Literature Review. JCEM Case Reports 2024, 3: luae239. PMID: 39726663, PMCID: PMC11669865, DOI: 10.1210/jcemcr/luae239.Peer-Reviewed Case Reports and Technical NotesAnti-Mullerian hormoneIntra-abdominal gonadsInhibin B levelsPrenatal ultrasound findingsElevated gonadotropin levelsRisk of malignancyHeterozygous pathogenic variantsGenotype-phenotype correlationNonpalpable gonadsGenital phenotypeLabioscrotal foldsFallopian tubeGonadotropin levelsClinical courseUrine retentionAtypical genitaliaUrogenital sinusVaginal openingCase reportSeparate uteriPathogenic variantsDEAH-boxRibosome biogenesisTestosterone levelsNovel etiology
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply