The congenital and acquired mechanisms implicated in the etiology of central precocious puberty

VN Brito, APM Canton, CE Seraphim… - Endocrine …, 2023 - academic.oup.com
The etiology of central precocious puberty (CPP) is multiple and heterogeneous, including
congenital and acquired causes that can be associated with structural or functional brain …

GENETICS IN ENDOCRINOLOGY: Genetic etiologies of central precocious puberty and the role of imprinted genes

SA Roberts, UB Kaiser - European Journal of Endocrinology, 2020 - academic.oup.com
Pubertal timing is regulated by the complex interplay of genetic, environmental, nutritional
and epigenetic factors. Criteria for determining normal pubertal timing, and thus the …

MKRN3 Mutations in Central Precocious Puberty: A Systematic Review and Meta-Analysis

LP Valadares, CG Meireles… - Journal of the …, 2019 - academic.oup.com
MKRN3 mutations represent the most common genetic cause of central precocious puberty
(CPP) but associations between genotype and clinical features have not been extensively …

Genetic factors in precocious puberty

YS Shim, HS Lee, JS Hwang - Clinical and Experimental …, 2021 - pmc.ncbi.nlm.nih.gov
Pubertal onset is known to result from reactivation of the hypothalamic-pituitary-gonadal
(HPG) axis, which is controlled by complex interactions of genetic and nongenetic factors …

Hypothalamic epigenetics driving female puberty

CA Toro, CF Aylwin, A Lomniczi - Journal of …, 2018 - Wiley Online Library
Puberty involves a series of morphological, physiological and behavioural changes during
the last part of the juvenile period that culminates in the attainment of fertility. The activation …

Molecular screening of MKRN3, DLK1, and KCNK9 genes in girls with idiopathic central precocious puberty

A Grandone, C Capristo, G Cirillo, M Sasso… - Hormone research in …, 2017 - karger.com
Background: Mutations in the imprinted gene MKRN3 have been described as a common
genetic cause of idiopathic central precocious puberty (CPP), in particular in familial cases …

MKRN3 and KISS1R mutations in precocious and early puberty

S Pagani, V Calcaterra, G Acquafredda… - Italian Journal of …, 2020 - Springer
Background Pubertal timing is known to be influenced by interactions among various
genetic, nutritional, environmental and socio-economic factors, although the ultimate …

Genetic causes of central precocious puberty

T Tajima - Clinical Pediatric Endocrinology, 2022 - jstage.jst.go.jp
Central precocious puberty (CPP) is a condition in which the hypothalamus–pituitary–
gonadal system is activated earlier than the normal developmental stage. The etiology …

Pathogenic and low-frequency variants in children with central precocious puberty

V Neocleous, P Fanis, M Toumba, B Gorka… - Frontiers in …, 2021 - frontiersin.org
Background Central precocious puberty (CPP) due to premature activation of GnRH
secretion results in early epiphyseal fusion and to a significant compromise in the achieved …

Makorin RING finger protein 3 and central precocious puberty

L Maione, L Naulé, UB Kaiser - Current opinion in endocrine and metabolic …, 2020 - Elsevier
Makorin RING finger protein 3 (MKRN3) is a key inhibitor of the hypothalamic–pituitary–
gonadal axis. Loss-of-function mutations in MKRN3 cause familial and sporadic central …