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 …

The role of the hypothalamus and pituitary epigenomes in central activation of the reproductive axis at puberty

D Shalev, P Melamed - Molecular and Cellular Endocrinology, 2020 - Elsevier
Puberty is programmed through a multifactorial gene network which works to activate the
pulsatile secretion of the gonadotropin releasing hormone (GnRH), and subsequently …

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 …

[HTML][HTML] Genetic factors in precocious puberty

YS Shim, HS Lee, JS Hwang - Clinical and Experimental Pediatrics, 2022 - 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 …

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 …

MKRN3 role in regulating pubertal onset: the state of art of functional studies

S Palumbo, G Cirillo, F Aiello, A Papparella… - Frontiers in …, 2022 - frontiersin.org
Puberty is a critical process characterized by several physical and psychological changes
that culminate in the achievement of sexual maturation and fertility. The onset of puberty …

Familial central precocious puberty: two novel MKRN3 mutations

T Varimo, AP Iivonen, J Känsäkoski, K Wehkalampi… - Pediatric …, 2021 - nature.com
Background Paternally inherited loss-of-function mutations in MKRN3 underlie central
precocious puberty (CPP). We describe clinical and genetic features of CPP patients with …

Comprehensive study on central precocious puberty: molecular and clinical analyses in 90 patients

H Narusawa, T Ogawa, H Yagasaki… - The Journal of …, 2024 - academic.oup.com
Abstract Context Defects in MKRN3, DLK1, KISS1, and KISS1R and some disorders, such
as Temple syndrome (TS14), cause central precocious puberty (CPP). Recently, pathogenic …