PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , , |
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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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 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822020000100607 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822020000100607 |
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 |
_version_ |
1750318251977474048 |