SFEBES2013 Poster Presentations Steroids (37 abstracts)
Range of urinary steroid metabolite ratios in children undergoing investigation for suspected disorder of steroid synthesis
Angela Lucas-Herald 1 , Martina Rodie 1 , Norrice Liu 1 , Karen Rankin 2 , Neil Watson 2 , Mohammed Guftar Shaikh 1 , Malcolm Donaldson 1 , Jane McNeilly 3 , David Shapiro 2 & Syed Faisal Ahmed 1
1Department of Child Health, Royal Hospital for Sick Children, Glasgow, UK, 2Department of Biochemistry, Glasgow Royal Infirmary, Glasgow, UK, 3Department of Biochemistry, Southern General Hospital, Glasgow, UK.
Background: Calculation of a urinary steroid metabolite ratio (uSMR) may be a useful method of improving diagnostic yield when investigating disorders of steroid hormone synthesis.
Objective & Hypothesis
To investigate the range of uSMR in children with suspected disorders of steroid hormone synthesis.
Population / Methods
Ten ratios were calculated on steroid metabolite data analysed by GC-MS in urine samples collected between 2008-2010 from 219 children who were undergoing investigations. To obtain reference data, urine samples were also analysed in 89 children with no background of endocrine concerns and who had a urine sample collected at presentation to the hospital with an acute illness.
Results: Of the 89 reference children, 36(40%) were male and median age at time of the test was 3 yrs(range,1 month-11 yrs). Of the 219 endocrine patients, 64(29%) were boys. In 129(59%) cases, a urine sample was collected to investigate early or exaggerated signs of adrenarche. Median age at test was 7.4 yrs(1 day-18 yrs). Median and ranges of two steroid ratios used in the diagnosis of 21-hydroxylase deficiency are demonstrated in the Table.
Abbreviations
17HP: 17-hydroxypregnanolone, PT: pregnanetriolone, THE: tetrahydrocortisone, THF: tetrahydrocortisol.
| <6months | 6months – <10yrs | 10yrs-18yrs | |
| 17HP/(THE+THF+5alphaTHF) Reference boys Affected boys Reference girls Affected girls | 0.014 (0.005-0.08) 0.014 (0.005-0.102) 0.11 (0.025-0.005) 0.026 (0.006-0.089) | 0.005 (0.00-0.25) 0.008 (0.001-0.37) 0.006 (0.00-0.033) 0.008 (0.001-0.08) | 0.025 (0.003-0.08) 0.017 (0.001-0.183) 0.011 (0.003-0.069) 0.02 (0.003-0.089) |
| PT/(THE+THF+5alphaTHF) Reference boys Affected boys Reference girls Affected girls | 0.024 (0.008-0.031) 0.046 (0.003-0.186) 0.012 (0.009-0.035) 0.039 (0.013-0.187) | 0.021 (0.00-0.283) 0.027 (0.003-0.103) 0.019 (0.006-0.128) 0.039 (0.005-0.351) | 0.108 (0.025-0.482) 0.049 (0.019-0.693) 0.065 (0.029-0.223) 0.085 (0.044-0.299) |
Conclusions: These novel data show that reference ranges for urinary steroid metabolite data need to be age matched. Most children with suspected disorders of steroid synthesis have a ratio which is within the reference range and the identification of outliers will lead to better targeting of genetic analyses.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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