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 …
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
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 …
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 …
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 …
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 …
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 …
(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 …
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 …
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
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 …
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 …
common monogenic cause of familial central precocious puberty (CPP). Objective To …