Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency : a case report

Detalhes bibliográficos
Autor(a) principal: Ferreira, Florbela
Data de Publicação: 2013
Outros Autores: Martins, João Martin, Vale, Sónia do, Esteves, Rui, Nunes, José Garção, Carmo, Isabel Do
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10451/45187
Resumo: © 2013 Ferreira et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License.
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spelling Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency : a case report21-hydroxylaseAdrenal myelolipomaAdrenogenital restsCongenital adrenal hyperplasia© 2013 Ferreira et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License.Introduction: We report the case of a patient with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency who presented with unusual anatomical and biochemical features, namely massively enlarged adrenal glands, adrenogenital rest tissue and an unexpected endocrine profile. The contribution of the adrenocortical cells in the adrenals and testicles was determined by a cosyntropin stimulation test before and after adrenalectomy. To the best of our knowledge this is the first report of such a case in the literature. Case presentation: A 35-year-old Caucasian man was admitted to the emergency room with an Addisonian crisis. He had been diagnosed with congenital adrenal hyperplasia in the neonatal period. He acknowledged poor adherence to treatment and irregular medical assistance. Physical examination revealed marked cutaneous and gingival hyperpigmentation, hypotension, and hard nodules in the upper pole of both testicles. Blood analysis showed mild anemia and hyponatremia and no evidence of acute infection. Endocrine evaluation showed very low cortisol levels, low dehydroepiandrosterone-sulfate and elevated corticotropin, 11-deoxycortisol and delta-4-androstenedione. The concentration of 17-hydroxyprogesterone was 20,400ng/dL. After the cosyntropin stimulation test the pattern was similar and there was no significant increase in cortisol or 17-hydroxyprogesterone. The abdominal computed tomography scan revealed grossly enlarged and heterogeneous adrenal glands (left, 12cm; and right, six cm). A bilateral adrenalectomy was performed and pathologic examination revealed adrenal myelolipomas with nodular cortical hyperplasia. The sonogram showed bilateral heterogeneous masses on the upper pole of both testes which corresponded to the nodular hyperplasia of adrenal rest tissues. The genetic study revealed compound heterozigoty (mutations R124H and R356W), suggestive of a phenotypically moderate disease. We performed a cosyntropin stimulation test after adrenalectomy. The steroidogenic profile displayed the same unusual features, indicating an important contribution from the adrenogenital cells. Conclusion: This case illustrates that congenital adrenal hyperplasia due to 21-hydroxylase deficiency can progress to severe acute and chronic complications. The masses in the patient’s adrenal glands and testicles resulted from chronically elevated adrenocorticotropic hormone and growth of adrenocortical cells. The basal and stimulated steroid profile, before and after adrenalectomy, revealed an unexpected pattern, suggesting significant contribution of the testicular adrenal cells to the steroidogenesis.Springer NatureRepositório da Universidade de LisboaFerreira, FlorbelaMartins, João MartinVale, Sónia doEsteves, RuiNunes, José GarçãoCarmo, Isabel Do2020-12-09T14:14:26Z2013-02-062013-02-06T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/45187engJ Med Case Rep. 2013 Feb 6;7:3910.1186/1752-1947-7-391752-1947info: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:RCAAP2023-11-08T16:46:49Zoai:repositorio.ul.pt:10451/45187Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T21:57:41.180637Repositório 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 Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency : a case report
title Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency : a case report
spellingShingle Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency : a case report
Ferreira, Florbela
21-hydroxylase
Adrenal myelolipoma
Adrenogenital rests
Congenital adrenal hyperplasia
title_short Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency : a case report
title_full Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency : a case report
title_fullStr Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency : a case report
title_full_unstemmed Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency : a case report
title_sort Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency : a case report
author Ferreira, Florbela
author_facet Ferreira, Florbela
Martins, João Martin
Vale, Sónia do
Esteves, Rui
Nunes, José Garção
Carmo, Isabel Do
author_role author
author2 Martins, João Martin
Vale, Sónia do
Esteves, Rui
Nunes, José Garção
Carmo, Isabel Do
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv Ferreira, Florbela
Martins, João Martin
Vale, Sónia do
Esteves, Rui
Nunes, José Garção
Carmo, Isabel Do
dc.subject.por.fl_str_mv 21-hydroxylase
Adrenal myelolipoma
Adrenogenital rests
Congenital adrenal hyperplasia
topic 21-hydroxylase
Adrenal myelolipoma
Adrenogenital rests
Congenital adrenal hyperplasia
description © 2013 Ferreira et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License.
publishDate 2013
dc.date.none.fl_str_mv 2013-02-06
2013-02-06T00:00:00Z
2020-12-09T14:14:26Z
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/10451/45187
url http://hdl.handle.net/10451/45187
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv J Med Case Rep. 2013 Feb 6;7:39
10.1186/1752-1947-7-39
1752-1947
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Springer Nature
publisher.none.fl_str_mv Springer Nature
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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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