Abstract：
BACKGROUND:5α-Reductase 2 deficiency (5ARD) is a known cause of 46,XY disorders of sex development (DSD). Traditionally, the diagnosis relies on dihydrotestosterone (DHT) measurement, but the results are often equivocal, potentially leading to misdiagnosis. We reviewed alternative approaches for diagnosis of 5ARD. METHODS:We conducted a retrospective review of the results of urinary steroid profiling (USP) by GC-MS and mutational analysis of SRD5A2 [steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)] by PCR and direct DNA sequencing of all 46,XY DSD patients referred to our laboratory with biochemical and/or genetic findings compatible with 5ARD. We also performed a literature review on the laboratory findings of all 5ARD cases reported in the past 10 years. RESULTS:Of 16 patients diagnosed with 5ARD between January 2003 and July 2012, 15 underwent USP, and all showed characteristically low 5α- to 5β-reduced steroid metabolite ratios. Four patients had DHT measured, but 2 did not reach the diagnostic cutoff. In all 12 patients who underwent genetic analysis, 2 mutations of the SRD5A2 gene were detected to confirm the diagnosis. Twenty-four publications involving 149 patients with 5ARD were published in the review period. Fewer than half of these patients had DHT tested. Nearly 95% of them had the diagnosis confirmed genetically. CONCLUSIONS:5ARD can be confidently diagnosed by USP at 3 months postnatally and confirmed by mutational analysis of SRD5A2. Interpretation of DHT results may be problematic and is not essential in the diagnosis of 5ARD. We propose new diagnostic algorithms for 46,XY DSD.
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Chan AO,But BW,Lee CY,Lam YY,Ng KL,Tung JY,Kwan EY,Chan YK,Tsui TK,Lam AL,Tse WY,Cheung PT,Shek CCdoi
10.1373/clinchem.2012.196501subject
Has Abstractpub_date
2013-05-01 00:00:00pages
798-806issue
5eissn
0009-9147issn
1530-8561pii
clinchem.2012.196501journal_volume
59pub_type
杂志文章,评审abstract：:In radioimmunoassay of digoxin by the dextran-coated charcoal method, duration of the incubation period for the antigen-antibody reaction and time allowed for dextran-coated charcoal to absorb the free antigen are critical factors. We compared effects of prolonged periods of absorption on results obtained with five co...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1975-02-01 00:00:00
abstract：BACKGROUND:Optimal cutoff values for tests results involving continuous variables are often derived in a data-driven way. This approach, however, may lead to overly optimistic measures of diagnostic accuracy. We evaluated the magnitude of the bias in sensitivity and specificity associated with data-driven selection of ...
journal_title：Clinical chemistry
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doi：10.1373/clinchem.2007.096032
更新日期：2008-04-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1988-04-01 00:00:00
abstract：:In "flow-injection analysis," the sample is inserted into a stream of reagent by use of a sample-injection valve. Mixing occurs downstream from the valve in a coil of tubing. With chemiluminescence detection this coil is positioned in front of a photomultiplier. We have evaluated the system for detection of hydrogen p...
journal_title：Clinical chemistry
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doi：
更新日期：1979-09-01 00:00:00
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doi：10.1373/clinchem.2018.291104
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journal_title：Clinical chemistry
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doi：
更新日期：1986-08-01 00:00:00
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journal_title：Clinical chemistry
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doi：
更新日期：1991-04-01 00:00:00
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journal_title：Clinical chemistry
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doi：
更新日期：1994-08-01 00:00:00
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doi：10.1373/clinchem.2003.029835
更新日期：2004-06-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1999-01-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1984-11-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1983-11-01 00:00:00
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doi：10.1373/clinchem.2018.287037
更新日期：2018-07-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1977-06-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2019.305045
更新日期：2019-12-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1977-01-01 00:00:00
abstract：BACKGROUND:For the past 30 years, the Sanger method has been the dominant approach and gold standard for DNA sequencing. The commercial launch of the first massively parallel pyrosequencing platform in 2005 ushered in the new era of high-throughput genomic analysis now referred to as next-generation sequencing (NGS). ...
journal_title：Clinical chemistry
pub_type： 杂志文章,评审
doi：10.1373/clinchem.2008.112789
更新日期：2009-04-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1980-05-01 00:00:00
abstract：:We describe a sensitive radioimmunoassay for rapidly determining the concentration of thyroxine in 10 microL of human serum. Aggregated antithyroxine antibodies are used to separate bound and free hormone. This speeds the assay and economizes on reagents without loss of sensitivity, specificity, or precision. Results ...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1980-03-01 00:00:00
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更新日期：2011-01-01 00:00:00
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journal_title：Clinical chemistry
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更新日期：2008-01-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1982-01-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2013.210435
更新日期：2014-03-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1993-08-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1981-06-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1979-04-01 00:00:00
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journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1984-06-01 00:00:00
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journal_title：Clinical chemistry
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doi：
更新日期：1989-05-01 00:00:00
