title: Ambiguous genitalia: two decades of experience.
abstract: OBJECTIVE
  Ambiguous genitalia is a complex, medical and social emergency. The aim of this study is to present our experience over two decades, focusing on the pattern and clinical presentation.
  
  
  METHODS
  A retrospective study conducted in the pediatric endocrine clinic at a university hospital Saudi Arabia during the period 1989-2008.
  
  
  METHODS
  Medical records of children with ambiguous genitalia were reviewed and the genitalia described.
  
  
  RESULTS
  Of the 81 children with ambiguous genitalia, 53 (65.4%) patients were genetically females (46XX), with congenital adrenal hyperplasia being the common cause in 51 (96.5%) patients. Hyperpigmentation, variable degrees of salt wasting and a family history of a similar problem helped in diagnosis. Male genetic sex (46XY) was present in only 28 (34.6%) patients with a diversity of causes; multiple congenital anomalies in 9 (32.1%), local anorectal anomalies in 2 (7.1%), congenital adrenal hyperplasia (3-β-hydroxysteroid dehydrogenase deficiency) in 2 (7.14%), 5-α-reductase deficiency in 4 (14.28%), partial androgen insensitivity in 3 (10.7%), complete androgen insensitivity in 4 (14.28%), and hypogonadotrophin deficiency in 4 (14.3%).Twenty-five (47.2%) of females were wrongly assigned as males, where only two (7.1%) males were wrongly assigned as females.
  
  
  CONCLUSIONS
  Ambiguous genitalia, currently termed disorders of sex development (DSD), is not uncommon in our community. Increased awareness, a detailed history, and a careful physical examination, coupled with appropriate laboratory and radiological investigations aid in early diagnosis and avoid serious sequelae.
authors.affiliation: Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia. njurayyan@ksu.edu.sa
authors.forename: Nasir A M
authors.initials: NA
authors.lastname: Al-Jurayyan
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000150:complications; D002648:Child; D002675:Child, Preschool; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000453:epidemiology / Q000473:pathology*; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities*; D005837:Genitalia, Male / Q000002:abnormalities*; D006785:Hospitals, University; D006801:Humans; D017495:Hyperpigmentation / Q000209:etiology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012189:Retrospective Studies; D012529:Saudi Arabia / Q000453:epidemiology; D012732:Sex Determination Analysis