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

Detalhes bibliográficos
Autor(a) principal: Bouça, Bruno
Data de Publicação: 2023
Outros Autores: Cascão, Mariana, Fiúza, Pedro, Amaral, Sara, Bogalho, Paula, Silva-Nunes, José
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10362/153667
Resumo: Publisher Copyright: © 2023 the author(s).
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spelling Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotypeInternal MedicineEndocrinology, Diabetes and MetabolismSDG 3 - Good Health and Well-beingPublisher Copyright: © 2023 the author(s).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.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNBouça, BrunoCascão, MarianaFiúza, PedroAmaral, SaraBogalho, PaulaSilva-Nunes, José2023-06-06T22:21:56Z2023-042023-04-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10362/153667eng2052-0573PURE: 62887783https://doi.org/10.1530/EDM-22-0338info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-11T05:36:13Zoai:run.unl.pt:10362/153667Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:55:21.913160Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype
title Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype
spellingShingle Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype
Bouça, Bruno
Internal Medicine
Endocrinology, Diabetes and Metabolism
SDG 3 - Good Health and Well-being
title_short Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype
title_full Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype
title_fullStr Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype
title_full_unstemmed Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype
title_sort Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype
author Bouça, Bruno
author_facet Bouça, Bruno
Cascão, Mariana
Fiúza, Pedro
Amaral, Sara
Bogalho, Paula
Silva-Nunes, José
author_role author
author2 Cascão, Mariana
Fiúza, Pedro
Amaral, Sara
Bogalho, Paula
Silva-Nunes, José
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
RUN
dc.contributor.author.fl_str_mv Bouça, Bruno
Cascão, Mariana
Fiúza, Pedro
Amaral, Sara
Bogalho, Paula
Silva-Nunes, José
dc.subject.por.fl_str_mv Internal Medicine
Endocrinology, Diabetes and Metabolism
SDG 3 - Good Health and Well-being
topic Internal Medicine
Endocrinology, Diabetes and Metabolism
SDG 3 - Good Health and Well-being
description Publisher Copyright: © 2023 the author(s).
publishDate 2023
dc.date.none.fl_str_mv 2023-06-06T22:21:56Z
2023-04
2023-04-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10362/153667
url http://hdl.handle.net/10362/153667
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2052-0573
PURE: 62887783
https://doi.org/10.1530/EDM-22-0338
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
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dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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instacron:RCAAP
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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