Background: Urinary steroid metabolite ratios may improve the diagnostic yield of potential disorders of steroid hormone synthesis.Objectives: To investigate the range of ratios and their predictive value in children with suspected disorders of steroid synthesis.Design and methods: Twelve ratios were calculated on steroid metabolite data analysed by gas chromatography-mass spectrometry in urine samples collected between 2008-2010 from 93 children. Urine samples were also analysed in 252 children with no known endocrine concerns.Results: Of the 252 controls, 115 (46%) were male with a median age of 10 yr (range 1 month, 18.5 years). Of the 93 cases, 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 greater than the 95% percentile for controls. The most frequently abnormal ratio, found in 18/93 (19%) cases was (THS/(THE + THF + 5 alpha THF)) suggestive of 11 beta-hydroxylase deficiency. Over this period, 8 (9%) children were subsequently diagnosed with a steroid hormone disorder; 4 with 21-hydroxylase deficiency, 2 with 11 beta-hydroxylase deficiency and 2 with 5 alpha-reductase deficiency. All except one of these children had at least 1 raised ratio.Conclusions: Urinary steroid metabolite ratios in suspected disorders of hormone synthesis often exceed the reference range for normal children. The predictive value of steroid metabolite ratios in identifying a genetic abnormality may be condition specific and needs further study to improve its clinical utility.
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|Data di pubblicazione:||2015|
|Titolo:||The pitfalls associated with urinary steroid metabolite ratios in children undergoing investigations for suspected disorders of steroid synthesis|
|Autori:||Lucas-Herald, Angela K; Rodie, Martina; Lucaccioni, Laura; Shapiro, David; Mcneilly, Jane; Shaikh, M Guftar; Ahmed, S Faisal|
|Digital Object Identifier (DOI):||10.1186/s13633-015-0007-1|
|Appare nelle tipologie:||Articolo su rivista|
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