48,XXYY in a general adult psychiatry department

Detalhes bibliográficos
Autor(a) principal: Santos, NB
Data de Publicação: 2010
Outros Autores: Trancas, B, Pinto, P, Lopes, B, Gamito, A, Almeida, S, Ferreira, B, Luengo, A, Vieira, C, Martinho, J, Pereira, B, Cardoso, G
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.10/90
Resumo: The 48,XXYY syndrome is a distinct clinical and genetic entity, with an incidence of 1:17,000 to 1:50,000 newborns. Patients often access mental healthcare services due to behavior problems, such as aggressiveness and impulsiveness, and are frequently intellectually disabled. We report a case of a patient with 48,XXYY syndrome treated in a general adult psychiatry department. A 23-year-old man was frequently admitted to our inpatient psychiatric unit (14 admissions in five years) due to disruptive behavior, including self harm, aggression to objects and animals, and fire-setting behavior, in a context of dysphoric mood and marked impulsivity. Upon observation, the patient had mild intellectual disability, with prominent impulsive and aggressive features and very low tolerance to frustration. His physical examination revealed hypertelorism, increased thickness of neck, acne, sparse body hair, triangular pubic hair distribution, fifth digit clinodactyly, small testicles and penis, and gynecoid pelvis. Laboratory analysis revealed endocrine abnormalities (low plasma testosterone and subclinical hypothyroidism). Cardiac Doppler sonogram was normal. Electroencephalogram revealed only a diffuse slowing electrogenesis, with no etiological specificity. Clinical suspicion of a chromosomal disorder was confirmed by a 48,XXYY karyotype. Subsequent magnetic resonance imaging detected discrete bilateral reduction of the hippocampal formations, possibly related to temporal dysgenesia. Psychopharmacological treatment options met moderate success, with lack of adherence. Other psychosocial treatment interventions ensued, including family therapy and psychoeducation. We underscore the need to be alert for chromosomal disorders, even in a general adult psychiatry department, as a minority of patients may reach adult care without proper diagnosis.
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spelling 48,XXYY in a general adult psychiatry departmentAnomalias dos cromossomas sexuaisDoenças genéticas ligadas ao XDoenças genéticas ligadas ao YCromossoma humano XCromossoma humano YTerapia familiarThe 48,XXYY syndrome is a distinct clinical and genetic entity, with an incidence of 1:17,000 to 1:50,000 newborns. Patients often access mental healthcare services due to behavior problems, such as aggressiveness and impulsiveness, and are frequently intellectually disabled. We report a case of a patient with 48,XXYY syndrome treated in a general adult psychiatry department. A 23-year-old man was frequently admitted to our inpatient psychiatric unit (14 admissions in five years) due to disruptive behavior, including self harm, aggression to objects and animals, and fire-setting behavior, in a context of dysphoric mood and marked impulsivity. Upon observation, the patient had mild intellectual disability, with prominent impulsive and aggressive features and very low tolerance to frustration. His physical examination revealed hypertelorism, increased thickness of neck, acne, sparse body hair, triangular pubic hair distribution, fifth digit clinodactyly, small testicles and penis, and gynecoid pelvis. Laboratory analysis revealed endocrine abnormalities (low plasma testosterone and subclinical hypothyroidism). Cardiac Doppler sonogram was normal. Electroencephalogram revealed only a diffuse slowing electrogenesis, with no etiological specificity. Clinical suspicion of a chromosomal disorder was confirmed by a 48,XXYY karyotype. Subsequent magnetic resonance imaging detected discrete bilateral reduction of the hippocampal formations, possibly related to temporal dysgenesia. Psychopharmacological treatment options met moderate success, with lack of adherence. Other psychosocial treatment interventions ensued, including family therapy and psychoeducation. We underscore the need to be alert for chromosomal disorders, even in a general adult psychiatry department, as a minority of patients may reach adult care without proper diagnosis.Matrix Medical CommunicationsRepositório do Hospital Prof. Doutor Fernando FonsecaSantos, NBTrancas, BPinto, PLopes, BGamito, AAlmeida, SFerreira, BLuengo, AVieira, CMartinho, JPereira, BCardoso, G2010-05-05T16:04:06Z2010-01-01T00:00:00Z2010-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.10/90engPsychiatry (Edgemont) 2010; 7(3): 32–361555-5194info: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:RCAAP2022-09-20T15:51:08Zoai:repositorio.hff.min-saude.pt:10400.10/90Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:51:28.224373Repositório 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 48,XXYY in a general adult psychiatry department
title 48,XXYY in a general adult psychiatry department
spellingShingle 48,XXYY in a general adult psychiatry department
Santos, NB
Anomalias dos cromossomas sexuais
Doenças genéticas ligadas ao X
Doenças genéticas ligadas ao Y
Cromossoma humano X
Cromossoma humano Y
Terapia familiar
title_short 48,XXYY in a general adult psychiatry department
title_full 48,XXYY in a general adult psychiatry department
title_fullStr 48,XXYY in a general adult psychiatry department
title_full_unstemmed 48,XXYY in a general adult psychiatry department
title_sort 48,XXYY in a general adult psychiatry department
author Santos, NB
author_facet Santos, NB
Trancas, B
Pinto, P
Lopes, B
Gamito, A
Almeida, S
Ferreira, B
Luengo, A
Vieira, C
Martinho, J
Pereira, B
Cardoso, G
author_role author
author2 Trancas, B
Pinto, P
Lopes, B
Gamito, A
Almeida, S
Ferreira, B
Luengo, A
Vieira, C
Martinho, J
Pereira, B
Cardoso, G
author2_role author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório do Hospital Prof. Doutor Fernando Fonseca
dc.contributor.author.fl_str_mv Santos, NB
Trancas, B
Pinto, P
Lopes, B
Gamito, A
Almeida, S
Ferreira, B
Luengo, A
Vieira, C
Martinho, J
Pereira, B
Cardoso, G
dc.subject.por.fl_str_mv Anomalias dos cromossomas sexuais
Doenças genéticas ligadas ao X
Doenças genéticas ligadas ao Y
Cromossoma humano X
Cromossoma humano Y
Terapia familiar
topic Anomalias dos cromossomas sexuais
Doenças genéticas ligadas ao X
Doenças genéticas ligadas ao Y
Cromossoma humano X
Cromossoma humano Y
Terapia familiar
description The 48,XXYY syndrome is a distinct clinical and genetic entity, with an incidence of 1:17,000 to 1:50,000 newborns. Patients often access mental healthcare services due to behavior problems, such as aggressiveness and impulsiveness, and are frequently intellectually disabled. We report a case of a patient with 48,XXYY syndrome treated in a general adult psychiatry department. A 23-year-old man was frequently admitted to our inpatient psychiatric unit (14 admissions in five years) due to disruptive behavior, including self harm, aggression to objects and animals, and fire-setting behavior, in a context of dysphoric mood and marked impulsivity. Upon observation, the patient had mild intellectual disability, with prominent impulsive and aggressive features and very low tolerance to frustration. His physical examination revealed hypertelorism, increased thickness of neck, acne, sparse body hair, triangular pubic hair distribution, fifth digit clinodactyly, small testicles and penis, and gynecoid pelvis. Laboratory analysis revealed endocrine abnormalities (low plasma testosterone and subclinical hypothyroidism). Cardiac Doppler sonogram was normal. Electroencephalogram revealed only a diffuse slowing electrogenesis, with no etiological specificity. Clinical suspicion of a chromosomal disorder was confirmed by a 48,XXYY karyotype. Subsequent magnetic resonance imaging detected discrete bilateral reduction of the hippocampal formations, possibly related to temporal dysgenesia. Psychopharmacological treatment options met moderate success, with lack of adherence. Other psychosocial treatment interventions ensued, including family therapy and psychoeducation. We underscore the need to be alert for chromosomal disorders, even in a general adult psychiatry department, as a minority of patients may reach adult care without proper diagnosis.
publishDate 2010
dc.date.none.fl_str_mv 2010-05-05T16:04:06Z
2010-01-01T00:00:00Z
2010-01-01T00:00:00Z
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/10400.10/90
url http://hdl.handle.net/10400.10/90
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Psychiatry (Edgemont) 2010; 7(3): 32–36
1555-5194
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 Matrix Medical Communications
publisher.none.fl_str_mv Matrix Medical Communications
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
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
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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