Pubertal development and regulation

AP Abreu, UB Kaiser - The lancet Diabetes & endocrinology, 2016 - thelancet.com
Puberty marks the end of childhood and is a period when individuals undergo physiological
and psychological changes to achieve sexual maturation and fertility. The hypothalamic …

[HTML][HTML] Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings

MA Angulo, MG Butler, ME Cataletto - Journal of endocrinological …, 2015 - Springer
Abstract Introduction Prader-Willi syndrome (PWS) is a multisystemic complex genetic
disorder caused by lack of expression of genes on the paternally inherited chromosome …

Causes, diagnosis, and treatment of central precocious puberty

AC Latronico, VN Brito, JC Carel - The lancet Diabetes & …, 2016 - thelancet.com
Central precocious puberty results from the premature activation of the hypothalamic-
pituitary-gonadal axis. It mimics physiological pubertal development, although at an …

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 …

[HTML][HTML] MKRN3 inhibits the reproductive axis through actions in kisspeptin-expressing neurons

AP Abreu, CA Toro, YB Song… - The Journal of …, 2020 - Am Soc Clin Investig
The identification of loss-of-function mutations in MKRN3 in patients with central precocious
puberty in association with the decrease in MKRN3 expression in the medial basal …

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 …

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 …

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 …

[HTML][HTML] Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

T Eggermann, G Perez de Nanclares, ER Maher… - Clinical …, 2015 - Springer
Congenital imprinting disorders (IDs) are characterised by molecular changes affecting
imprinted chromosomal regions and genes, ie genes that are expressed in a parent-of-origin …

Central precocious puberty: Recent advances in understanding the aetiology and in the clinical approach

L Maione, C Bouvattier, UB Kaiser - Clinical Endocrinology, 2021 - Wiley Online Library
Central precocious puberty (CPP) results from early activation of the hypothalamic‐pituitary‐
gonadal (HPG) axis. The current state of knowledge of the complex neural network acting at …