46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly

Am J Med Genet A. 2015 Jun;167(6):1360-4. doi: 10.1002/ajmg.a.37037. Epub 2015 Apr 21.

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.

Keywords: adactyly; bifid thymus; congenital diaphragmatic hernia; disorders of sex development; gut malrotation; polysplenia; rhizomelia; truncus arteriosus.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Digestive System Abnormalities / genetics*
  • Digestive System Abnormalities / pathology
  • Disorder of Sex Development, 46,XY / genetics*
  • Disorder of Sex Development, 46,XY / pathology
  • Facies
  • Fatal Outcome
  • Female
  • Hand Deformities, Congenital / genetics*
  • Hand Deformities, Congenital / pathology
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / pathology
  • Hernias, Diaphragmatic, Congenital / genetics*
  • Hernias, Diaphragmatic, Congenital / pathology
  • Humans
  • Infant
  • Infant, Newborn
  • Intestinal Volvulus / genetics*
  • Intestinal Volvulus / pathology
  • Male
  • Thymus Gland / metabolism
  • Thymus Gland / pathology
  • Truncus Arteriosus / metabolism
  • Truncus Arteriosus / pathology

Supplementary concepts

  • Volvulus Of Midgut