FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2010686593> ?p ?o ?g. }

• W2010686593 abstract "The steroidogenic enzyme 21-hydroxylase is necessary for the synthesis of both glucocorticoids and mineralocorticoids. 21-hydroxylase is a cytochrome P-450 enzyme and is encoded by the gene CYP21A2. Here we report a 68-year-old phenotypically 'male' but genetically female patient with 21-hydroxylase deficiency (21OHD) and the concomitant virilizing adrenocortical carcinoma. This patient grew up as a male and has not encountered any episodes of adrenal insufficiency without glucocorticoid replacement in his lifetime. A chromosome test at admission, however, identified the 46, XX karyotype, and serum 17-hydroxyprogesterone and urine pregnanetriolone and 11β-hydroxyandrostendione were all elevated, consistent with 21OHD. Moreover, serum testosterone was 1.90 ng/ml, much higher than the female standard levels, and serum cortisol was 5.7 µg/ml, slightly lower than standard levels. Genetic analysis identified the patient as a heterozygote of the two pathogenic mutations in the CYP21A2 gene: IVS2-13C(A)>G and R356W. Magnetic resonance imaging (MRI) revealed the presence of left adrenal tumor measuring 6 cm, which was subsequently diagnosed as adrenocortical carcinoma based on the criteria of Weiss. Immunohistochemical analysis of the tumor specimens revealed the expression of various enzymes involved in testosterone production, including 3β-hydroxysteroid dehydrogenase, 17α-hydroxylase/17,20-lyase, and 17β-hydroxysteroid dehydrogenase. Importantly, the expression of immunoreactive 21-hydroxylase was detected in these tumor cells. The levels of adrenal tumor-derived steroid metabolites were all markedly decreased following the surgery. This is the first report on a virilized 21OHD patient associated with the adrenocortical tumor that produces testosterone. Moreover, the concomitant adrenocortical tumor may ameliorate adrenocortical insufficiency by producing cortisol." @default.
• W2010686593 created "2016-06-24" @default.
• W2010686593 creator A5005723640 @default.
• W2010686593 creator A5008536405 @default.
• W2010686593 creator A5015575554 @default.
• W2010686593 creator A5016279116 @default.
• W2010686593 creator A5032249615 @default.
• W2010686593 creator A5034747317 @default.
• W2010686593 creator A5049974598 @default.
• W2010686593 creator A5056821899 @default.
• W2010686593 creator A5059324157 @default.
• W2010686593 creator A5076749939 @default.
• W2010686593 creator A5088084624 @default.
• W2010686593 date "2013-01-01" @default.
• W2010686593 modified "2023-09-23" @default.
• W2010686593 title "A 68-Year-Old Phenotypically Male Patient with 21-Hydroxylase Deficiency and Concomitant Adrenocortical Neoplasm Producing Testosterone and Cortisol" @default.
• W2010686593 cites W1521923380 @default.
• W2010686593 cites W1963680434 @default.
• W2010686593 cites W19643833 @default.
• W2010686593 cites W1968479204 @default.
• W2010686593 cites W1973700531 @default.
• W2010686593 cites W1982730248 @default.
• W2010686593 cites W2010945407 @default.
• W2010686593 cites W2011478728 @default.
• W2010686593 cites W2014696401 @default.
• W2010686593 cites W2017464743 @default.
• W2010686593 cites W2030051114 @default.
• W2010686593 cites W2033342330 @default.
• W2010686593 cites W2037425536 @default.
• W2010686593 cites W2039836243 @default.
• W2010686593 cites W2042743793 @default.
• W2010686593 cites W2047088170 @default.
• W2010686593 cites W2054264530 @default.
• W2010686593 cites W2059809971 @default.
• W2010686593 cites W2066497061 @default.
• W2010686593 cites W2068295960 @default.
• W2010686593 cites W2073064694 @default.
• W2010686593 cites W2077894644 @default.
• W2010686593 cites W2088313895 @default.
• W2010686593 cites W2121515067 @default.
• W2010686593 cites W2138979064 @default.
• W2010686593 cites W2146118298 @default.
• W2010686593 cites W2148992989 @default.
• W2010686593 cites W2329409914 @default.
• W2010686593 cites W2413483376 @default.
• W2010686593 cites W2469869745 @default.
• W2010686593 cites W3021913310 @default.
• W2010686593 cites W4210400066 @default.
• W2010686593 doi "https://doi.org/10.1620/tjem.231.75" @default.
• W2010686593 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24077358" @default.
• W2010686593 hasPublicationYear "2013" @default.
• W2010686593 type Work @default.
• W2010686593 sameAs 2010686593 @default.
• W2010686593 citedByCount "7" @default.
• W2010686593 countsByYear W20106865932015 @default.
• W2010686593 countsByYear W20106865932016 @default.
• W2010686593 countsByYear W20106865932018 @default.
• W2010686593 countsByYear W20106865932019 @default.
• W2010686593 countsByYear W20106865932020 @default.
• W2010686593 crossrefType "journal-article" @default.
• W2010686593 hasAuthorship W2010686593A5005723640 @default.
• W2010686593 hasAuthorship W2010686593A5008536405 @default.
• W2010686593 hasAuthorship W2010686593A5015575554 @default.
• W2010686593 hasAuthorship W2010686593A5016279116 @default.
• W2010686593 hasAuthorship W2010686593A5032249615 @default.
• W2010686593 hasAuthorship W2010686593A5034747317 @default.
• W2010686593 hasAuthorship W2010686593A5049974598 @default.
• W2010686593 hasAuthorship W2010686593A5056821899 @default.
• W2010686593 hasAuthorship W2010686593A5059324157 @default.
• W2010686593 hasAuthorship W2010686593A5076749939 @default.
• W2010686593 hasAuthorship W2010686593A5088084624 @default.
• W2010686593 hasBestOaLocation W20106865931 @default.
• W2010686593 hasConcept C126322002 @default.
• W2010686593 hasConcept C134018914 @default.
• W2010686593 hasConcept C142716871 @default.
• W2010686593 hasConcept C181199279 @default.
• W2010686593 hasConcept C2777767042 @default.
• W2010686593 hasConcept C2779279991 @default.
• W2010686593 hasConcept C2780321258 @default.
• W2010686593 hasConcept C2780841215 @default.
• W2010686593 hasConcept C2781399356 @default.
• W2010686593 hasConcept C55493867 @default.
• W2010686593 hasConcept C71924100 @default.
• W2010686593 hasConcept C86803240 @default.
• W2010686593 hasConceptScore W2010686593C126322002 @default.
• W2010686593 hasConceptScore W2010686593C134018914 @default.
• W2010686593 hasConceptScore W2010686593C142716871 @default.
• W2010686593 hasConceptScore W2010686593C181199279 @default.
• W2010686593 hasConceptScore W2010686593C2777767042 @default.
• W2010686593 hasConceptScore W2010686593C2779279991 @default.
• W2010686593 hasConceptScore W2010686593C2780321258 @default.
• W2010686593 hasConceptScore W2010686593C2780841215 @default.
• W2010686593 hasConceptScore W2010686593C2781399356 @default.
• W2010686593 hasConceptScore W2010686593C55493867 @default.
• W2010686593 hasConceptScore W2010686593C71924100 @default.
• W2010686593 hasConceptScore W2010686593C86803240 @default.
• W2010686593 hasLocation W20106865931 @default.
• W2010686593 hasLocation W20106865932 @default.
• W2010686593 hasOpenAccess W2010686593 @default.
• W2010686593 hasPrimaryLocation W20106865931 @default.

• next