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Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype

2023-05Journal article Open access
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dc.contributor.authorBouça, Bruno
dc.contributor.authorCascão, Mariana
dc.contributor.authorFiúza, Pedro
dc.contributor.authorAmaral, Sara
dc.contributor.authorBogalho, Paula
dc.contributor.authorSilva-Nunes, José
dc.date.accessioned2023-05-22T14:14:09Z
dc.date.available2023-05-22T14:14:09Z
dc.date.issued2023-05
dc.description.abstractSummary: 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 having primary amenorrhea. Further analytical evaluations of her hormone levels were performed CT scan revealed adrenal bilateral hyperplasia and the 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, 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. Learning points: The association of severe hypokalemia, hypertension, hypocortisolism, 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBouça B, Cascão M, Fiúza P, Amaral S, Bogalho P, Silva-Nunes J. Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype. Endocrinol Diabetes Metab Case Rep. 2023;2023(2):22-0338.pt_PT
dc.identifier.doi10.1530/EDM-22-0338pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.21/16101
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBioscientificapt_PT
dc.relation.publisherversionhttps://edm.bioscientifica.com/view/journals/edm/2023/2/EDM22-0338.xmlpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectCongenital adrenal hyperplasiapt_PT
dc.subjectUnique/unexpected symptomspt_PT
dc.subjectPresentations of a diseasept_PT
dc.subjectAutosomal recessive diseasept_PT
dc.subjectClinical casept_PT
dc.subjectPortugalpt_PT
dc.titleDiagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotypept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue2pt_PT
oaire.citation.startPage22-0338pt_PT
oaire.citation.titleEndocrinology, Diabetes & Metabolism Case Reportspt_PT
oaire.citation.volume2023pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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