Artículo
Taming Idiopathic Central Precocious Puberty: High Frequency of Imprinting Disorders in Familial Forms
Fecha de publicación:
08/2023
Editorial:
Endocrine Society
Revista:
Journal of Clinical Endocrinology and Metabolism
ISSN:
0021-972X
e-ISSN:
1945-7197
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
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.
Palabras clave:
CENTRAL PRECOCIOUS PUBERTY
,
DLK1
,
FAMILIAL
,
GENETIC IMPRINTING
,
MKRN3
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Identificadores
Colecciones
Articulos(CEDIE)
Articulos de CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Articulos de CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Citación
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
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