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Published on: October 13, 2018
Central precocious puberty: Recent advances in understanding the aetiology and in the clinical approach
Luigi Maione1,2, Claire Bouvattier2, Ursula B Kaiser1
1Division of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Insights
Central precocious puberty (CPP) stems from early activation of the hypothalamic-pituitary-gonadal (HPG) axis. Recent genetic discoveries, like MKRN3 and DLK1 mutations, are revolutionizing CPP diagnosis and understanding its complex causes.
Area of Science:
- Endocrinology
- Neuroendocrinology
- Genetics
Background:
- Central precocious puberty (CPP) involves premature activation of the hypothalamic-pituitary-gonadal (HPG) axis.
- Understanding the intricate neural networks and molecular interactions governing puberty onset is crucial.
Purpose of the Study:
- This review synthesizes current knowledge on regulatory abnormalities at the hypothalamic level causing CPP.
- It also examines the clinical diagnostic approach and etiologies of CPP.
Main Methods:
- Literature review focusing on molecular interactions, pubertal physiology, and pathophysiology.
- Analysis of recent genetic findings, including MKRN3 and DLK1 mutations.
- Discussion of syndromic disorders and CNS lesions associated with CPP.
Main Results:
- Advances in understanding molecular mechanisms and genetic factors (MKRN3, DLK1) have significantly impacted CPP diagnosis.
- Identification of genetic mutations in familial and sporadic CPP cases.
- Recognition of syndromic disorders and CNS lesions as contributing factors.
Conclusions:
- Regulatory abnormalities in the hypothalamus are key to CPP.
- Genetic discoveries are transforming the approach to CPP patients.
- Untreated CPP can lead to adverse physical, psychosocial, and medical outcomes.
Abstract:
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.
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