PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1

Detalhes bibliográficos
Autor(a) principal: Miranda,Patrícia Sofia Ferreira
Data de Publicação: 2020
Outros Autores: Pereira,Ester Preciosa Maio Nunes, Barreto,Joana Serra Caetano Baltazar, Henriques,Margarida Maria Videira, Mirante,Maria Alice Santos Cordeiro, Ramos,Lina Maria Jesus Ferreira Cardoso
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Revista Paulista de Pediatria (Ed. Português. Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822020000100607
Resumo: ABSTRACT Objective: To present a case of bilateral gynecomastia in a prepubertal boy with autism spectrum disorder, diagnosed with myotonic dystrophy type 1. Case description: A 12-year-old boy with autism spectrum disorder presented at a follow-up visit with bilateral breast growth. There was a family history of gynecomastia, cataracts at a young age, puberty delay, and myotonic dystrophy type 1. The physical examination showed that he had bilateral gynecomastia with external genitalia Tanner stage 1. Neurologic examination was regular, without demonstrable myotonia. The analytical study revealed increased estradiol levels and estradiol/testosterone ratio. After excluding endocrine diseases, the molecular study of the dystrophia myotonica protein kinase gene confirmed the diagnosis of myotonic dystrophy type 1. Comments: A diagnosis of prepubertal gynecomastia should include an investigation for possible underlying diseases. This case report highlights the importance of considering the diagnosis of myotonic dystrophy type 1 in the presence of endocrine and neurodevelopmental manifestations.
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spelling PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1GynecomastiaMyotonic dystrophySteinert diseaseAromataseAdolescentABSTRACT Objective: To present a case of bilateral gynecomastia in a prepubertal boy with autism spectrum disorder, diagnosed with myotonic dystrophy type 1. Case description: A 12-year-old boy with autism spectrum disorder presented at a follow-up visit with bilateral breast growth. There was a family history of gynecomastia, cataracts at a young age, puberty delay, and myotonic dystrophy type 1. The physical examination showed that he had bilateral gynecomastia with external genitalia Tanner stage 1. Neurologic examination was regular, without demonstrable myotonia. The analytical study revealed increased estradiol levels and estradiol/testosterone ratio. After excluding endocrine diseases, the molecular study of the dystrophia myotonica protein kinase gene confirmed the diagnosis of myotonic dystrophy type 1. Comments: A diagnosis of prepubertal gynecomastia should include an investigation for possible underlying diseases. This case report highlights the importance of considering the diagnosis of myotonic dystrophy type 1 in the presence of endocrine and neurodevelopmental manifestations.Sociedade de Pediatria de São Paulo2020-01-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822020000100607Revista Paulista de Pediatria v.38 2020reponame:Revista Paulista de Pediatria (Ed. Português. Online)instname:Sociedade de Pediatria de São Paulo (SPSP)instacron:SPSP10.1590/1984-0462/2020/38/2018294info:eu-repo/semantics/openAccessMiranda,Patrícia Sofia FerreiraPereira,Ester Preciosa Maio NunesBarreto,Joana Serra Caetano BaltazarHenriques,Margarida Maria VideiraMirante,Maria Alice Santos CordeiroRamos,Lina Maria Jesus Ferreira Cardosoeng2020-11-03T00:00:00Zoai:scielo:S0103-05822020000100607Revistahttps://www.rpped.com.br/ONGhttps://old.scielo.br/oai/scielo-oai.phppediatria@spsp.org.br||rpp@spsp.org.br1984-04620103-0582opendoar:2020-11-03T00:00Revista Paulista de Pediatria (Ed. Português. Online) - Sociedade de Pediatria de São Paulo (SPSP)false
dc.title.none.fl_str_mv PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1
title PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1
spellingShingle PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1
Miranda,Patrícia Sofia Ferreira
Gynecomastia
Myotonic dystrophy
Steinert disease
Aromatase
Adolescent
title_short PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1
title_full PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1
title_fullStr PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1
title_full_unstemmed PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1
title_sort PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1
author Miranda,Patrícia Sofia Ferreira
author_facet Miranda,Patrícia Sofia Ferreira
Pereira,Ester Preciosa Maio Nunes
Barreto,Joana Serra Caetano Baltazar
Henriques,Margarida Maria Videira
Mirante,Maria Alice Santos Cordeiro
Ramos,Lina Maria Jesus Ferreira Cardoso
author_role author
author2 Pereira,Ester Preciosa Maio Nunes
Barreto,Joana Serra Caetano Baltazar
Henriques,Margarida Maria Videira
Mirante,Maria Alice Santos Cordeiro
Ramos,Lina Maria Jesus Ferreira Cardoso
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Miranda,Patrícia Sofia Ferreira
Pereira,Ester Preciosa Maio Nunes
Barreto,Joana Serra Caetano Baltazar
Henriques,Margarida Maria Videira
Mirante,Maria Alice Santos Cordeiro
Ramos,Lina Maria Jesus Ferreira Cardoso
dc.subject.por.fl_str_mv Gynecomastia
Myotonic dystrophy
Steinert disease
Aromatase
Adolescent
topic Gynecomastia
Myotonic dystrophy
Steinert disease
Aromatase
Adolescent
description ABSTRACT Objective: To present a case of bilateral gynecomastia in a prepubertal boy with autism spectrum disorder, diagnosed with myotonic dystrophy type 1. Case description: A 12-year-old boy with autism spectrum disorder presented at a follow-up visit with bilateral breast growth. There was a family history of gynecomastia, cataracts at a young age, puberty delay, and myotonic dystrophy type 1. The physical examination showed that he had bilateral gynecomastia with external genitalia Tanner stage 1. Neurologic examination was regular, without demonstrable myotonia. The analytical study revealed increased estradiol levels and estradiol/testosterone ratio. After excluding endocrine diseases, the molecular study of the dystrophia myotonica protein kinase gene confirmed the diagnosis of myotonic dystrophy type 1. Comments: A diagnosis of prepubertal gynecomastia should include an investigation for possible underlying diseases. This case report highlights the importance of considering the diagnosis of myotonic dystrophy type 1 in the presence of endocrine and neurodevelopmental manifestations.
publishDate 2020
dc.date.none.fl_str_mv 2020-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
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dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/1984-0462/2020/38/2018294
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade de Pediatria de São Paulo
publisher.none.fl_str_mv Sociedade de Pediatria de São Paulo
dc.source.none.fl_str_mv Revista Paulista de Pediatria v.38 2020
reponame:Revista Paulista de Pediatria (Ed. Português. Online)
instname:Sociedade de Pediatria de São Paulo (SPSP)
instacron:SPSP
instname_str Sociedade de Pediatria de São Paulo (SPSP)
instacron_str SPSP
institution SPSP
reponame_str Revista Paulista de Pediatria (Ed. Português. Online)
collection Revista Paulista de Pediatria (Ed. Português. Online)
repository.name.fl_str_mv Revista Paulista de Pediatria (Ed. Português. Online) - Sociedade de Pediatria de São Paulo (SPSP)
repository.mail.fl_str_mv pediatria@spsp.org.br||rpp@spsp.org.br
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