title: 46XY girls: the importance of careful newborn examination.
abstract: OBJECTIVE
  To understand the timing and factors affecting diagnosis of phenotypically female 46XY children.
  
  
  METHODS
  We studied all phenotypically female 46XY children who attended our multidisciplinary disorders of sexual differentiation (DSD) clinic in Nottingham England in a 3-year period since its inception. Case notes from a prospectively maintained database were reviewed and data were analyzed on the age at presentation, family history, findings on genital examination, and underlying endocrine abnormality.
  
  
  RESULTS
  Eleven children were studied, all of whom were being raised as girls. The median age of presentation was 18 months (range birth-15 years). Although the newborn examination detected the possibility of DSD in only 3 cases; 10 of 11 children had at least one significant abnormality in their external genitalia at presentation.
  
  
  CONCLUSIONS
  Careful neonatal genital examination can identify children with DSD. However, not all children with these conditions are identified early. Early diagnosis, when possible, is important, as it has the potential to make the management of this difficult condition more straightforward.
authors: Department of Pediatric Urology, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom. Electronic address: timsharp@nhs.net.
authors: T
authors: T
authors: Sharp
authors: Department of Pediatric Urology, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.
authors: N
authors: N
authors: Fraser
authors: Department of Pediatric Urology, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.
authors: M U
authors: MU
authors: Shenoy
authors: Department of Pediatric Endocrinology, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.
authors: T
authors: T
authors: Randell
authors: Department of Pediatric Endocrinology, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.
authors: L
authors: L
authors: Denvir
authors: Department of Pediatric Urology, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.
authors: A R
authors: AR
authors: Williams
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005835:Genitalia / Q000002:abnormalities*; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D010808:Physical Examination