[HTML][HTML] Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3
Background The onset of puberty is first detected as an increase in pulsatile secretion of
gonadotropin-releasing hormone (GnRH). Early activation of the hypothalamic–pituitary …
gonadotropin-releasing hormone (GnRH). Early activation of the hypothalamic–pituitary …
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3
Context: Loss-of-function mutations in makorin ring finger 3 (MKRN3), an imprinted gene
located on the long arm of chromosome 15, have been recognized recently as a cause of …
located on the long arm of chromosome 15, have been recognized recently as a cause of …
Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty
D Simon, I Ba, N Mekhail, E Ecosse… - European Journal of …, 2016 - academic.oup.com
Context and objective Idiopathic central precocious puberty (iCPP) is defined as early
activation of the hypothalamic–pituitary–gonadal axis in the absence of identifiable central …
activation of the hypothalamic–pituitary–gonadal axis in the absence of identifiable central …
New causes of central precocious puberty: the role of genetic factors
A pivotal event in the onset of puberty in humans is the reemergence of the pulsatile release
of the gonadotropin-releasing hormone (GnRH) from hypothalamic neurons. Pathways …
of the gonadotropin-releasing hormone (GnRH) from hypothalamic neurons. Pathways …
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 …
Central Precocious Puberty in a Girl and Early Puberty in Her Brother Caused by a Novel Mutation in the MKRN3 Gene
N Settas, C Dacou-Voutetakis… - The Journal of …, 2014 - academic.oup.com
Context: Central precocious puberty (CPP), defined as the development of secondary sex
characteristics prior to age 8 years in girls and 9 years in boys, results from the premature …
characteristics prior to age 8 years in girls and 9 years in boys, results from the premature …
High frequency of MKRN3 mutations in male central precocious puberty previously classified as idiopathic
Background/Aims: Recently, loss-of-function mutations in the MKRN3 gene have been
implicated in the etiology of familial central precocious puberty (CPP) in both sexes. We …
implicated in the etiology of familial central precocious puberty (CPP) in both sexes. We …
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 …
[HTML][HTML] Pioneering studies on monogenic central precocious puberty
Pubertal timing in humans is determined by complex interactions including hormonal,
metabolic, environmental, ethnic, and genetic factors. Central precocious puberty (CPP) is …
metabolic, environmental, ethnic, and genetic factors. Central precocious puberty (CPP) is …
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 …