Taming Idiopathic Central Precocious Puberty: High Frequency of Imprinting Disorders in Familial Forms

Autores
Correa Brito, Lourdes Magdalena; Rey, Rodolfo Alberto
Año de publicación
2023
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Central precocious puberty (CPP) results from the abnormally early reactivation of the hypothalamic-pituitary-gonadal axis, leading to the appearance of secondary sexual characteristics before the age of 8 years in girls or 9 years in boys. The incidence of precocious puberty varies according to population, sex, and age at presentation (1), reaching 80/100 000 in girls between 5 and 9 years (2), but 10- to 25-fold lower in boys (1, 2). The etiologies of CPP include lesions of the central nervous system, such as congenital malformations, tumors or other insults (eg, infections, trauma, cranial radiotherapy, cerebral palsy), or conditions without organic lesions (3). The latter include early and chronic exposure to estrogens or androgens resulting in secondary CPP (eg, poorly controlled congenital adrenal hyperplasia), social exposures (eg, international adoption), and genetic disorders. Overall, an overt etiology is identified in 30% to 75% of boys and only 10% of girls (1, 3). Therefore, given that CPP is far more frequent in females, the majority of patients have traditionally been classified as having “idiopathic” CPP, meaning “unexplained” CPP. As usual, the term “idiopathic” has vague boundaries in medicine and, in the case of CPP, although organic lesions are always carefully ruled out, genetic studies have been performed erratically probably leading to an overestimation of the frequency of “idiopathic” CPP.
Fil: Correa Brito, Lourdes Magdalena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina
Fil: Rey, Rodolfo Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina
Materia
CENTRAL PRECOCIOUS PUBERTY
DLK1
FAMILIAL
GENETIC IMPRINTING
MKRN3
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/228922
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/228922
network_acronym_str CONICETDig
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network_name_str CONICET Digital (CONICET)
spelling Taming Idiopathic Central Precocious Puberty: High Frequency of Imprinting Disorders in Familial FormsCorrea Brito, Lourdes MagdalenaRey, Rodolfo AlbertoCENTRAL PRECOCIOUS PUBERTYDLK1FAMILIALGENETIC IMPRINTINGMKRN3https://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Central precocious puberty (CPP) results from the abnormally early reactivation of the hypothalamic-pituitary-gonadal axis, leading to the appearance of secondary sexual characteristics before the age of 8 years in girls or 9 years in boys. The incidence of precocious puberty varies according to population, sex, and age at presentation (1), reaching 80/100 000 in girls between 5 and 9 years (2), but 10- to 25-fold lower in boys (1, 2). The etiologies of CPP include lesions of the central nervous system, such as congenital malformations, tumors or other insults (eg, infections, trauma, cranial radiotherapy, cerebral palsy), or conditions without organic lesions (3). The latter include early and chronic exposure to estrogens or androgens resulting in secondary CPP (eg, poorly controlled congenital adrenal hyperplasia), social exposures (eg, international adoption), and genetic disorders. Overall, an overt etiology is identified in 30% to 75% of boys and only 10% of girls (1, 3). Therefore, given that CPP is far more frequent in females, the majority of patients have traditionally been classified as having “idiopathic” CPP, meaning “unexplained” CPP. As usual, the term “idiopathic” has vague boundaries in medicine and, in the case of CPP, although organic lesions are always carefully ruled out, genetic studies have been performed erratically probably leading to an overestimation of the frequency of “idiopathic” CPP.Fil: Correa Brito, Lourdes Magdalena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Rey, Rodolfo Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaEndocrine Society2023-08info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/228922Correa Brito, Lourdes Magdalena; Rey, Rodolfo Alberto; Taming Idiopathic Central Precocious Puberty: High Frequency of Imprinting Disorders in Familial Forms; Endocrine Society; Journal of Clinical Endocrinology and Metabolism; 108; 8; 8-2023; e636-e6370021-972X1945-7197CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/jcem/article/108/8/e636/7041124info:eu-repo/semantics/altIdentifier/doi/10.1210/clinem/dgad091info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-nd/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T09:44:45Zoai:ri.conicet.gov.ar:11336/228922instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 09:44:46.11CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Taming Idiopathic Central Precocious Puberty: High Frequency of Imprinting Disorders in Familial Forms
title Taming Idiopathic Central Precocious Puberty: High Frequency of Imprinting Disorders in Familial Forms
spellingShingle Taming Idiopathic Central Precocious Puberty: High Frequency of Imprinting Disorders in Familial Forms
Correa Brito, Lourdes Magdalena
CENTRAL PRECOCIOUS PUBERTY
DLK1
FAMILIAL
GENETIC IMPRINTING
MKRN3
title_short Taming Idiopathic Central Precocious Puberty: High Frequency of Imprinting Disorders in Familial Forms
title_full Taming Idiopathic Central Precocious Puberty: High Frequency of Imprinting Disorders in Familial Forms
title_fullStr Taming Idiopathic Central Precocious Puberty: High Frequency of Imprinting Disorders in Familial Forms
title_full_unstemmed Taming Idiopathic Central Precocious Puberty: High Frequency of Imprinting Disorders in Familial Forms
title_sort Taming Idiopathic Central Precocious Puberty: High Frequency of Imprinting Disorders in Familial Forms
dc.creator.none.fl_str_mv Correa Brito, Lourdes Magdalena
Rey, Rodolfo Alberto
author Correa Brito, Lourdes Magdalena
author_facet Correa Brito, Lourdes Magdalena
Rey, Rodolfo Alberto
author_role author
author2 Rey, Rodolfo Alberto
author2_role author
dc.subject.none.fl_str_mv CENTRAL PRECOCIOUS PUBERTY
DLK1
FAMILIAL
GENETIC IMPRINTING
MKRN3
topic CENTRAL PRECOCIOUS PUBERTY
DLK1
FAMILIAL
GENETIC IMPRINTING
MKRN3
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Central precocious puberty (CPP) results from the abnormally early reactivation of the hypothalamic-pituitary-gonadal axis, leading to the appearance of secondary sexual characteristics before the age of 8 years in girls or 9 years in boys. The incidence of precocious puberty varies according to population, sex, and age at presentation (1), reaching 80/100 000 in girls between 5 and 9 years (2), but 10- to 25-fold lower in boys (1, 2). The etiologies of CPP include lesions of the central nervous system, such as congenital malformations, tumors or other insults (eg, infections, trauma, cranial radiotherapy, cerebral palsy), or conditions without organic lesions (3). The latter include early and chronic exposure to estrogens or androgens resulting in secondary CPP (eg, poorly controlled congenital adrenal hyperplasia), social exposures (eg, international adoption), and genetic disorders. Overall, an overt etiology is identified in 30% to 75% of boys and only 10% of girls (1, 3). Therefore, given that CPP is far more frequent in females, the majority of patients have traditionally been classified as having “idiopathic” CPP, meaning “unexplained” CPP. As usual, the term “idiopathic” has vague boundaries in medicine and, in the case of CPP, although organic lesions are always carefully ruled out, genetic studies have been performed erratically probably leading to an overestimation of the frequency of “idiopathic” CPP.
Fil: Correa Brito, Lourdes Magdalena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina
Fil: Rey, Rodolfo Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina
description Central precocious puberty (CPP) results from the abnormally early reactivation of the hypothalamic-pituitary-gonadal axis, leading to the appearance of secondary sexual characteristics before the age of 8 years in girls or 9 years in boys. The incidence of precocious puberty varies according to population, sex, and age at presentation (1), reaching 80/100 000 in girls between 5 and 9 years (2), but 10- to 25-fold lower in boys (1, 2). The etiologies of CPP include lesions of the central nervous system, such as congenital malformations, tumors or other insults (eg, infections, trauma, cranial radiotherapy, cerebral palsy), or conditions without organic lesions (3). The latter include early and chronic exposure to estrogens or androgens resulting in secondary CPP (eg, poorly controlled congenital adrenal hyperplasia), social exposures (eg, international adoption), and genetic disorders. Overall, an overt etiology is identified in 30% to 75% of boys and only 10% of girls (1, 3). Therefore, given that CPP is far more frequent in females, the majority of patients have traditionally been classified as having “idiopathic” CPP, meaning “unexplained” CPP. As usual, the term “idiopathic” has vague boundaries in medicine and, in the case of CPP, although organic lesions are always carefully ruled out, genetic studies have been performed erratically probably leading to an overestimation of the frequency of “idiopathic” CPP.
publishDate 2023
dc.date.none.fl_str_mv 2023-08
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/228922
Correa Brito, Lourdes Magdalena; Rey, Rodolfo Alberto; Taming Idiopathic Central Precocious Puberty: High Frequency of Imprinting Disorders in Familial Forms; Endocrine Society; Journal of Clinical Endocrinology and Metabolism; 108; 8; 8-2023; e636-e637
0021-972X
1945-7197
CONICET Digital
CONICET
url http://hdl.handle.net/11336/228922
identifier_str_mv Correa Brito, Lourdes Magdalena; Rey, Rodolfo Alberto; Taming Idiopathic Central Precocious Puberty: High Frequency of Imprinting Disorders in Familial Forms; Endocrine Society; Journal of Clinical Endocrinology and Metabolism; 108; 8; 8-2023; e636-e637
0021-972X
1945-7197
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/jcem/article/108/8/e636/7041124
info:eu-repo/semantics/altIdentifier/doi/10.1210/clinem/dgad091
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Endocrine Society
publisher.none.fl_str_mv Endocrine Society
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.13397

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