title: Urinary steroid profiling in the diagnosis of congenital adrenal hyperplasia and disorders of sex development: experience of a urinary steroid referral centre in Hong Kong.
abstract: BACKGROUND
  Deficiency in any one of the steroidogenic enzymes may result in congenital adrenal hyperplasia (CAH) and disorders of sex development (DSD). Urinary steroid profiling (USP) can quantify metabolites of all relevant steroids simultaneously in a single analysis and has established clinical applications in the investigation and diagnosis in these disorders.
  
  
  METHODS
  A retrospective review was performed on all the samples sent to the Chemical Pathology Laboratory, Queen Elizabeth Hospital, Hong Kong, for the investigation of suspected disorders in steroid metabolism by USP between 2003 and 2011.
  
  
  RESULTS
  432 patients had urine samples sent to our laboratory for USP for the investigation of CAH and DSD in the review period. USP showed diagnostic pattern of 21-hydroxylase deficiency (n=21), 5α-reductase 2 deficiency (n=12), 17α-hydroxylase deficiency (n=3), isolated 17,20-lyase deficiency (n=1), 11β-hydroxylase deficiency (n=1) and P450 oxidoreductase deficiency (n=1).
  
  
  CONCLUSIONS
  21-hydroxylase deficiency is the most common form of CAH while 5α-reductase 2 deficiency is the most common cause of 46,XY DSD in our population. USP is a useful tool in the investigation and diagnosis of CAH and DSD due to different steroidogenesis defects and should be included as a first-line endocrine investigation in this group of patients.
authors.affiliation: Division of Clinical Biochemistry, LG128A, Block K, Queen Mary Hospital, 102 Pok Fu Lam Road, Hong Kong SAR. cok436@ha.org.hk
authors.forename: Angel O K
authors.initials: AO
authors.lastname: Chan
authors.forename: C C
authors.initials: CC
authors.lastname: Shek
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000652:urine; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000652:urine; D005260:Female; D006723:Hong Kong; D006761:Hospitals; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D012017:Referral and Consultation; D012189:Retrospective Studies; D013256:Steroids / Q000652:urine*; D016482:Urinalysis; D055815:Young Adult
chemical_list: D013256:Steroids