Edited and Reviewed by: Sally Radovick, Rutgers, The State University of New Jersey, United States
*Correspondence: Duarte Henriques-Neto,
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Puberty is the transition from childhood to adulthood, during which secondary sexual characteristics develop and the reproductive system matures. This process is complex and influenced by genetic, hormonal and environmental factors (
Genetic regulation of puberty involves a balance between inhibitory and excitatory mechanisms. The inhibitory mechanism is controlled by genes such as
Early activation of the HPG axis leads to the production of gonadotropins, such as luteinising hormone (LH) and follicle-stimulating hormone (FSH), which can result in early puberty, particularly central precocious puberty (CPP) (
MC4R in the hypothalamus is linked to the regulation of appetite and energy expenditure. Functional alterations in the MC4R can lead to changes in the timing of pubertal maturation, associated to hyperphagia and leptin resistance.
In a Xiphophorus fish model MC4R was concluded to be a class A G protein-coupled receptor with physiological and regulatory value, not only important for the Xiphophorus fish but also possibly relevant for understanding metabolic regulation in other fish species and even metabolism and obesity in humans (
The HPG axis is activated by the kisspeptin-GnRH system, which stimulates the production of LH and FSH and the consequent development of secondary sexual characteristics. LH and FSH regulate the synthesis and secretion of oestrogens, progesterone, and the menstrual cycle. A high concentration of LH and FSH at baseline (i.e. LH>0.2IU/L or LH/FSH ratio >0.6) indicate the onset of puberty. In addition, monitoring SHBG can be a biomarker of CPP, as it is a homodimeric peptide that regulates the metabolism of hormones such as oestradiol and testosterone.
A cohort of 121 girls found that a baseline concentration of LH ≥0.58 IU/L and SHBG ≤58.79 nmol/L can serve as relevant biomarkers for determining rapidly progressive CPP (
CPP can significantly impact young people’s health. The pineal gland is in the epithalamus and is responsible for the synthesis and regulation of melatonin. Pineal cysts are benign intracranial lesions that may or may not cause clinical symptoms.
In a single-centre study from China it was concluded that pineal cysts correlate with CPP, especially when the cysts are larger than 5 mm (
Dysfunction in the division of the rostral notochord and the prechordal plate during blastogenesis is generally associated with abnormalities in the central nervous system, including pituitary duplication. Nevertheless, pituitary duplication is rare.
The combination of isolated pituitary duplication and CPP is rare in clinical contexts. Its prognosis is limited, and meticulous and continuous follow-up is suggested to check for temporal changes. Even so, this clinical case with a literature review shows that treatment with inhibitors seems to have therapeutic efficacy (
Willams syndrome is a genetic disorder characterised by delayed development, mental disorders, and abnormalities in the cardiovascular and renal systems.
This is a case study of a 4-year-old girl with Williams Syndrome and congenital adrenal hyperplasia (CAH) who developed CPP after starting corticosteroid treatment. The patient showed progressive virilisation, developmental delay and advancing bone age. Genetic tests confirmed mutations in the
CPP can lead to organic pathologies in the central nervous system, especially if progressing rapidly. One way of assessing these changes at the cranial level is through MRI.
This research highlights the need for MRI imaging for children between 6-8 years of age continues to be debated, the results suggest that imaging decisions should be individualised (
Adolescence is characterised by important physiological and psychological changes that impact present and future health. This editorial highlights the importance of developing in-depth knowledge of pubertal processes and the need for methodologies and tools for diagnosing CPP. The role of the MC4R in regulating the onset of puberty and body weight was highlighted by its differentiated dimerisation. The baseline values of LH and SHBG proved useful for the early diagnosis of rapidly progressing CPP, allowing for more timely interventions. MRI has also revealed that some intracranial abnormalities are associated with CPP, although in very specific cases, such as the presence of pineal cysts.
DH-N: Writing – review & editing, Conceptualization, Writing – original draft. MP: Writing – review & editing, Conceptualization. AM: Writing – review & editing, Conceptualization.
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The author(s) declare that no Generative AI was used in the creation of this manuscript.
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