title: 46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.
abstract: The association of 46,XY disorder of sex development (DSD) with congenital diaphragmatic hernia (CDH) is rare, but has been previously described with and without other congenital anomalies. Literature review identified five cases of 46,XY DSD associated with CDH and other congenital anomalies. These five cases share characteristics including CDH, 46,XY karyotype with external female appearing or ambiguous genitalia, cardiac anomalies, and decreased life span. The present case had novel features including truncus arteriosus, bifid thymus, gut malrotation, and limb anomalies consisting of rhizomelia and adactyly. With this case report, we present a review of the literature of cases of 46,XY DSD and CDH in association with multiple congenital abnormalities. This case may represent a unique syndrome of 46,XY DSD and diaphragmatic hernia or a more severe presentation of a syndrome represented in the previously reported cases.
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California.
authors.forename: Edward D
authors.initials: ED
authors.lastname: Esplin
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, California.
authors.forename: Hassan
authors.initials: H
authors.lastname: Chaib
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, California.
authors.forename: Michael
authors.initials: M
authors.lastname: Haney
authors.affiliation: Department of Pathology, Stanford University School of Medicine, Stanford, California.
authors.forename: Brock
authors.initials: B
authors.lastname: Martin
authors.affiliation: Center for Fetal and Maternal Health, Lucile Packard Children's Hospital, Stanford, California.
authors.forename: Margaret
authors.initials: M
authors.lastname: Homeyer
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, California.|Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California.
authors.forename: Alexander E
authors.initials: AE
authors.lastname: Urban
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California.
authors.forename: Jonathan A
authors.initials: JA
authors.lastname: Bernstein
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D004065:Digestive System Abnormalities / Q000235:genetics* / Q000473:pathology; D058490:Disorder of Sex Development, 46,XY / Q000235:genetics* / Q000473:pathology; D019066:Facies; D017809:Fatal Outcome; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics* / Q000473:pathology; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology; D065630:Hernias, Diaphragmatic, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D045822:Intestinal Volvulus / Q000235:genetics* / Q000473:pathology; D008297:Male; D013950:Thymus Gland / Q000378:metabolism / Q000473:pathology; D014338:Truncus Arteriosus / Q000378:metabolism / Q000473:pathology
keywords: adactyly; bifid thymus; congenital diaphragmatic hernia; disorders of sex development; gut malrotation; polysplenia; rhizomelia; truncus arteriosus