Diagnosis and management of precocious sexual maturation: an updated review

AV Cheuiche, LG da Silveira, LCP de Paula… - European journal of …, 2021 - Springer
The classic definition of precocious sexual maturation is the development of secondary
sexual characteristics before 8 years of age in girls and before 9 years of age in boys. It is …

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 …

Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty

A Dauber, M Cunha-Silva, DB Macedo… - The Journal of …, 2017 - academic.oup.com
Context: Central precocious puberty (CPP) results from premature activation of the
hypothalamic–pituitary–gonadal axis. Few genetic causes of CPP have been identified, with …

DLK1 Is a Novel Link Between Reproduction and Metabolism

LG Gomes, M Cunha-Silva, RP Crespo… - The Journal of …, 2019 - academic.oup.com
Background Delta-like homolog 1 (DLK1), also called preadipocyte factor 1, prevents
adipocyte differentiation and has been considered a molecular gatekeeper of adipogenesis …

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 …

Delayed puberty—phenotypic diversity, molecular genetic mechanisms, and recent discoveries

SR Howard, L Dunkel - Endocrine reviews, 2019 - academic.oup.com
This review presents a comprehensive discussion of the clinical condition of delayed
puberty, a common presentation to the pediatric endocrinologist, which may present both …

Central precocious puberty, functional and tumor-related

L Soriano-Guillén, J Argente - … practice & research Clinical endocrinology & …, 2019 - Elsevier
Precocious puberty is defined as the appearance of secondary sex characteristics before 8
years of age in girls and before 9 years of age in boys. Central precocious puberty (CPP) is …

[HTML][HTML] Understanding the genetic complexity of puberty timing across the allele frequency spectrum

KA Kentistou, LR Kaisinger, S Stankovic, M Vaudel… - Nature …, 2024 - nature.com
Pubertal timing varies considerably and is associated with later health outcomes. We
performed multi-ancestry genetic analyses on~ 800,000 women, identifying 1,080 signals for …

Genotype–Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations

CE Seraphim, APM Canton… - The Journal of …, 2021 - academic.oup.com
Context Loss-of-function mutations of makorin RING finger protein 3 (MKRN3) are the most
common monogenic cause of familial central precocious puberty (CPP). Objective To …