Background: Urinary steroid metabolite ratios may improve the diagnostic yield of potential disorders of steroid\nhormone synthesis.\nObjectives: To investigate the range of ratios and their predictive value in children with suspected disorders of\nsteroid synthesis.\nDesign and methods: Twelve ratios were calculated on steroid metabolite data analysed by gas\nchromatographyââ?¬â??mass spectrometry in urine samples collected between 2008ââ?¬â??2010 from 93 children. Urine\nsamples were also analysed in 252 children with no known endocrine concerns.\nResults: Of the 252 controls, 115 (46%) were male with a median age of 10 yr (range 1 month,18.5 years). Of the 93\ncases, 38 (41%) were male with a median age of 6.5 yr (1 day,18.5 yrs). Of these, 41 (44%) had at least one ratio\ngreater than the 95% percentile for controls. The most frequently abnormal ratio, found in 18/93 (19%) cases was\n(THS/(THE + THF + 5?THF)) suggestive of 11?-hydroxylase deficiency. Over this period, 8 (9%) children were\nsubsequently diagnosed with a steroid hormone disorder; 4 with 21-hydroxylase deficiency, 2 with11?-hydroxylase\ndeficiency and 2 with 5?-reductase deficiency. All except one of these children had at least 1 raised ratio.\nConclusions: Urinary steroid metabolite ratios in suspected disorders of hormone synthesis often exceed the\nreference range for normal children. The predictive value of steroid metabolite ratios in identifying a genetic\nabnormality may be condition specific and needs further study to improve its clinical utility.
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