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The Role of SNPs in the Pathogenesis of Idiopathic Central Precocious Puberty in Girls.
Toutoudaki, Konstantina; Paltoglou, George; Papadimitriou, Dimitrios T; Eleftheriades, Anna; Tsarna, Ermioni; Christopoulos, Panagiotis.
Afiliación
  • Toutoudaki K; Second Department of Obstetrics and Gynecology, "Aretaieion" Hospital, Faculty of Medicine, National and Kapodistrian University of Athens, 11528 Athens, Greece.
  • Paltoglou G; Division of Endocrinology, Metabolism and Diabetes, 'Aghia Sophia' Children's Hospital First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 11527 Athens, Greece.
  • Papadimitriou DT; Second Department of Obstetrics and Gynecology, "Aretaieion" Hospital, Faculty of Medicine, National and Kapodistrian University of Athens, 11528 Athens, Greece.
  • Eleftheriades A; Second Department of Obstetrics and Gynecology, "Aretaieion" Hospital, Faculty of Medicine, National and Kapodistrian University of Athens, 11528 Athens, Greece.
  • Tsarna E; Second Department of Obstetrics and Gynecology, "Aretaieion" Hospital, Faculty of Medicine, National and Kapodistrian University of Athens, 11528 Athens, Greece.
  • Christopoulos P; Second Department of Obstetrics and Gynecology, "Aretaieion" Hospital, Faculty of Medicine, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Children (Basel) ; 10(3)2023 Feb 25.
Article en En | MEDLINE | ID: mdl-36980008
The initiation of puberty is a crucial timepoint of development, with its disruptions being associated with multiple physical and psychological complications. Idiopathic Central Precocious Puberty (iCPP) has been correlated with Single-Nucleotide Polymorphisms (SNPs) of certain genes that are implicated in various steps of the process of pubertal onset. The aim of this review was to gather current knowledge on SNPs of genes associated with iCPP. We searched articles published on the PubMed, EMBASE and Google Scholar platforms and gathered current literature. KISS1, KISS1R, PLCB1, PRKCA, ITPR1, MKRN3, HPG axis genes, NPVF/NPFFR1, DLK1, KCNK9Q, LIN28B, PROK2R, IGF-1, IGF2, IGF-1R, IGF-2R, IGFBP-3, insulin, IRS-1, LEP/LEPR, PPARγ2, TAC3, TACR3, Estrogen receptors, CYP3A4 and CYP19A1 were studied for implication in the development of precocious puberty. SNPs discovered in genes KISS1, KISS1R, PLCB1, MKRN3, NPVF, LIN28B, PROK2R, IRS-1 TAC3, and CYP3A4 were significantly correlated with CPP, triggering or protecting from CPP. Haplotype (TTTA)13 in CYP19A1 was a significant contributor to CPP. Further investigation of the mechanisms implicated in the pathogenesis of CPP is required to broaden the understanding of these genes' roles in CPP and possibly initiate targeted therapies.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Etiology_studies Idioma: En Revista: Children (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Grecia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Etiology_studies Idioma: En Revista: Children (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Grecia Pais de publicación: Suiza