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Central precocious puberty: Recent advances in understanding the aetiology and in the clinical approach
Author(s) -
Maione Luigi,
Bouvattier Claire,
Kaiser Ursula B.
Publication year - 2021
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/cen.14475
Subject(s) - precocious puberty , context (archaeology) , central precocious puberty , medicine , etiology , psychosocial , central nervous system , endocrinology , hypothalamus , hypothalamic–pituitary–gonadal axis , neuroscience , bioinformatics , psychology , hormone , biology , psychiatry , luteinizing hormone , paleontology
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 the level of the hypothalamus and the GnRH neuron to control puberty onset has expanded, particularly in the context of molecular interactions. Along with these advances, the knowledge of pubertal physiology and pathophysiology has also increased. This review focuses on regulatory abnormalities occurring at the hypothalamic level of the HPG axis to cause CPP. The clinical approach to diagnosis of puberty and pubertal disorders is also reviewed, with a particular focus on aetiologies of CPP. The recent identification of mutations in MKRN3 and DLK1 in familial as well sporadic forms of CPP has changed the state of the art of the approach to patients with CPP. Genetic advances have also had important repercussions beyond consideration of puberty alone. Syndromic disorders and central nervous system lesions associated with CPP are also discussed. If untreated, these conditions may lead to adverse physical, psychosocial and medical outcomes.