Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype
Autor(a) principal: | |
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Data de Publicação: | 2023 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.21/16101 |
Resumo: | Summary: 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. |
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Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotypeCongenital adrenal hyperplasiaUnique/unexpected symptomsPresentations of a diseaseAutosomal recessive diseaseClinical casePortugalSummary: 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.BioscientificaRCIPLBouça, BrunoCascão, MarianaFiúza, PedroAmaral, SaraBogalho, PaulaSilva-Nunes, José2023-05-22T14:14:09Z2023-052023-05-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.21/16101engBouça 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):22-0338.10.1530/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:RCAAP2023-08-03T10:14:24Zoai:repositorio.ipl.pt:10400.21/16101Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:23:41.924258Repositório 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 Congenital adrenal hyperplasia Unique/unexpected symptoms Presentations of a disease Autosomal recessive disease Clinical case Portugal |
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 |
RCIPL |
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 |
Congenital adrenal hyperplasia Unique/unexpected symptoms Presentations of a disease Autosomal recessive disease Clinical case Portugal |
topic |
Congenital adrenal hyperplasia Unique/unexpected symptoms Presentations of a disease Autosomal recessive disease Clinical case Portugal |
description |
Summary: 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. |
publishDate |
2023 |
dc.date.none.fl_str_mv |
2023-05-22T14:14:09Z 2023-05 2023-05-01T00:00:00Z |
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/10400.21/16101 |
url |
http://hdl.handle.net/10400.21/16101 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Bouça 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. 10.1530/EDM-22-0338 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
dc.publisher.none.fl_str_mv |
Bioscientifica |
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Bioscientifica |
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reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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