title: Assessing sex assignment concordance with genotype and phenotype.
abstract: OBJECTIVE
  To catalogue patients with DSD and to assess the concordance of genotype and phenotype with sex assignment at birth compared to sex assignment before and following assessment by a Gender Medicine Team (GMT) at one institution, as an initial step in formulating standardized guidelines for management of these conditions.
  
  
  METHODS
  After obtaining IRB approval, a retrospective chart review was conducted patients seen in the Gender Medicine Clinic (GMC) between 2006-2009 at Texas Children's Hospital (TCH), Houston, Texas. McNemar's test and Kappa agreement provided associations of various factors with sex assignment at birth prior to GMT assessment and after GMT assessment.
  
  
  METHODS
  Forty-seven patients seen in the GMC with confirmed DSD.
  
  
  RESULTS
  Forty-seven patients met the inclusion criteria. The mean age of the patients at the time of GMT evaluation was 9.1+/-6.1 years; 61.7% had male karyotype, and 38.3% had female karyotype; 51.1% had a male external phenotype, 42.6% had a female external phenotype, and 6.4% had phenotypic ambiguity. Sex assignment was concordant with genotype and phenotype in 63.8% and 86.4%, respectively of cases at the time of birth and in 76.6% and 97.7%, respectively, of cases after assessment by GMT.
  
  
  CONCLUSIONS
  Long-term outcomes are needed to establish standardized practice guidelines for decision-making.
authors.affiliation: Department of Pediatrics, Gender Medicine Team, Baylor College of Medicine, Houston, TX, 77030, USA.
authors.forename: Deepa
authors.initials: D
authors.lastname: Suresh
authors.affiliation: Department of OBGYN, Division of Pediatric and Adolescent Gynecology, Baylor College of Medicine, Houston, TX, 77030, USA.
authors.forename: Jessica
authors.initials: J
authors.lastname: Crawford
authors.affiliation: Department of Pediatrics, Gender Medicine Team, Baylor College of Medicine, Houston, TX, 77030, USA.
authors.forename: Marni E
authors.initials: ME
authors.lastname: Axelrad
authors.affiliation: Department of Pediatrics, Gender Medicine Team, Baylor College of Medicine, Houston, TX, 77030, USA.
authors.forename: Sheila K
authors.initials: SK
authors.lastname: Gunn
authors.affiliation: Department of Pediatrics, Gender Medicine Team, Baylor College of Medicine, Houston, TX, 77030, USA.
authors.forename: Laurence
authors.initials: L
authors.lastname: McCullough
authors.affiliation: Department of Pediatrics, Gender Medicine Team, Baylor College of Medicine, Houston, TX, 77030, USA.
authors.forename: O' Brian
authors.initials: OB
authors.lastname: Smith
authors.affiliation: Department of Pediatrics, Gender Medicine Team, Baylor College of Medicine, Houston, TX, 77030, USA.
authors.forename: Vernon R
authors.initials: VR
authors.lastname: Sutton
authors.affiliation: Department of Urology, Division of Pediatric Urology, Baylor College of Medicine, Houston, TX, 77030, USA.
authors.forename: David
authors.initials: D
authors.lastname: Roth
authors.affiliation: Department of Pediatrics, Gender Medicine Team, Baylor College of Medicine, Houston, TX, 77030, USA.
authors.forename: Lefkothea P
authors.initials: LP
authors.lastname: Karaviti
authors.affiliation: Department of OBGYN, Division of Pediatric and Adolescent Gynecology, Baylor College of Medicine, Houston, TX, 77030, USA.
authors.forename: Jennifer E
authors.initials: JE
authors.lastname: Dietrich