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

BackgroundDeficiency 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.Patients and methodsA 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.Results432 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).Conclusions21-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.

► Urinary steroid profiling (USP) is valuable for investigating endocrine disorders.
► 21-hydroxylase deficiency is the major form of congenital adrenal hyperplasia.
► 5α reductase 2 deficiency is not uncommon in Hong Kong Chinese patients.
► Awareness of pre-analytical factors are essential in data analysis.
► USP should be included as first-line endocrine investigation in these patients.