FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4377011610> ?p ?o ?g. }

• W4377011610 abstract "17-Alpha-hydroxylase deficiency (17OHD) is a rare autosomal recessive disease, representing 1% of cases of congenital adrenal hyperplasia. A 44-year-old female presented to the emergency department complaining of generalized asthenia and polyarthralgia for about 2 weeks. On examination, she was hypertensive (174/100 mmHg), and laboratory results revealed hypokalemia and hypocortisolism. She had an uncharacteristic morphotype, BMI of 16.7 kg/m2, cutaneous hyperpigmentation, and Tanner stage M1P1, with normal female external genitalia. She reported to have primary amenorrhea. Further analytical evaluations of her hormone levels were performed CT scan revealed adrenal bilateral hyperplasia and absence of female internal genitalia. A nodular lesion was observed in the left inguinal canal with 25 × 10 mm, compatible with a testicular remnant. Genetic analysis identified the c.3G>A p.(Met1?) variant in homozygosity in the CYP17A1 gene, classified as pathogenic, confirming the diagnosis of 17OHD. Karyotype analysis was compatible with 46,XY. The association of severe hypokalemia, hypertension, hypocortisolism, and oligo/amenorrhea and the absence of secondary sexual characteristics favored the diagnosis of 17OHD, confirmed by genetic testing. As in other published clinical cases, diagnosis outside pediatric age is not rare and should be considered when severe hypokalemia occurs in hypertensive adults with a lack of secondary sexual characteristics.The association of severe hypokalemia, hypertension, hypocortisolism, and oligo/amenorrhea and the absence of secondary sexual characteristics favor the diagnosis of 17-alpha-hydroxylase deficiency (17OHD). Diagnosis outside pediatric age is not rare. 17OHD should be considered when severe hypokalemia occurs in hypertensive adults with a lack of secondary sexual characteristics." @default.
• W4377011610 created "2023-05-19" @default.
• W4377011610 creator A5010271419 @default.
• W4377011610 creator A5024562461 @default.
• W4377011610 creator A5032831959 @default.
• W4377011610 creator A5056660108 @default.
• W4377011610 creator A5067533408 @default.
• W4377011610 creator A5082518476 @default.
• W4377011610 date "2023-05-01" @default.
• W4377011610 modified "2023-09-27" @default.
• W4377011610 title "Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype" @default.
• W4377011610 cites W1518299086 @default.
• W4377011610 cites W1968973920 @default.
• W4377011610 cites W1971572803 @default.
• W4377011610 cites W1987537316 @default.
• W4377011610 cites W1988193919 @default.
• W4377011610 cites W1988991456 @default.
• W4377011610 cites W2001518235 @default.
• W4377011610 cites W2025302968 @default.
• W4377011610 cites W2025408018 @default.
• W4377011610 cites W2029352009 @default.
• W4377011610 cites W2043748387 @default.
• W4377011610 cites W2061158434 @default.
• W4377011610 cites W2066421521 @default.
• W4377011610 cites W2135921553 @default.
• W4377011610 cites W2139671073 @default.
• W4377011610 cites W2157020561 @default.
• W4377011610 cites W2167167407 @default.
• W4377011610 cites W2178082968 @default.
• W4377011610 cites W2265514567 @default.
• W4377011610 cites W2325372093 @default.
• W4377011610 cites W2565811078 @default.
• W4377011610 cites W2567349832 @default.
• W4377011610 cites W3152973430 @default.
• W4377011610 cites W106931772 @default.
• W4377011610 doi "https://doi.org/10.1530/edm-22-0338" @default.
• W4377011610 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37199305" @default.
• W4377011610 hasPublicationYear "2023" @default.
• W4377011610 type Work @default.
• W4377011610 citedByCount "0" @default.
• W4377011610 crossrefType "journal-article" @default.
• W4377011610 hasAuthorship W4377011610A5010271419 @default.
• W4377011610 hasAuthorship W4377011610A5024562461 @default.
• W4377011610 hasAuthorship W4377011610A5032831959 @default.
• W4377011610 hasAuthorship W4377011610A5056660108 @default.
• W4377011610 hasAuthorship W4377011610A5067533408 @default.
• W4377011610 hasAuthorship W4377011610A5082518476 @default.
• W4377011610 hasBestOaLocation W43770116102 @default.
• W4377011610 hasConcept C104317684 @default.
• W4377011610 hasConcept C126322002 @default.
• W4377011610 hasConcept C134018914 @default.
• W4377011610 hasConcept C142716871 @default.
• W4377011610 hasConcept C187212893 @default.
• W4377011610 hasConcept C188997412 @default.
• W4377011610 hasConcept C2777691561 @default.
• W4377011610 hasConcept C2777767042 @default.
• W4377011610 hasConcept C2778242168 @default.
• W4377011610 hasConcept C29456083 @default.
• W4377011610 hasConcept C501734568 @default.
• W4377011610 hasConcept C54355233 @default.
• W4377011610 hasConcept C71315377 @default.
• W4377011610 hasConcept C71924100 @default.
• W4377011610 hasConcept C77018033 @default.
• W4377011610 hasConcept C86803240 @default.
• W4377011610 hasConceptScore W4377011610C104317684 @default.
• W4377011610 hasConceptScore W4377011610C126322002 @default.
• W4377011610 hasConceptScore W4377011610C134018914 @default.
• W4377011610 hasConceptScore W4377011610C142716871 @default.
• W4377011610 hasConceptScore W4377011610C187212893 @default.
• W4377011610 hasConceptScore W4377011610C188997412 @default.
• W4377011610 hasConceptScore W4377011610C2777691561 @default.
• W4377011610 hasConceptScore W4377011610C2777767042 @default.
• W4377011610 hasConceptScore W4377011610C2778242168 @default.
• W4377011610 hasConceptScore W4377011610C29456083 @default.
• W4377011610 hasConceptScore W4377011610C501734568 @default.
• W4377011610 hasConceptScore W4377011610C54355233 @default.
• W4377011610 hasConceptScore W4377011610C71315377 @default.
• W4377011610 hasConceptScore W4377011610C71924100 @default.
• W4377011610 hasConceptScore W4377011610C77018033 @default.
• W4377011610 hasConceptScore W4377011610C86803240 @default.
• W4377011610 hasIssue "2" @default.
• W4377011610 hasLocation W43770116101 @default.
• W4377011610 hasLocation W43770116102 @default.
• W4377011610 hasLocation W43770116103 @default.
• W4377011610 hasLocation W43770116104 @default.
• W4377011610 hasOpenAccess W4377011610 @default.
• W4377011610 hasPrimaryLocation W43770116101 @default.
• W4377011610 hasRelatedWork W1999273469 @default.
• W4377011610 hasRelatedWork W2019014610 @default.
• W4377011610 hasRelatedWork W2104949955 @default.
• W4377011610 hasRelatedWork W2801834886 @default.
• W4377011610 hasRelatedWork W2965658741 @default.
• W4377011610 hasRelatedWork W3041526819 @default.
• W4377011610 hasRelatedWork W4296713232 @default.
• W4377011610 hasRelatedWork W4296744661 @default.
• W4377011610 hasRelatedWork W4377011610 @default.
• W4377011610 hasRelatedWork W4377143064 @default.
• W4377011610 hasVolume "2023" @default.
• W4377011610 isParatext "false" @default.
• W4377011610 isRetracted "false" @default.

• next