The researchers analyzed more than 400 children; The discovery could pave the way for new treatments
AGÊNCIA FAPESP – Although it is still considered a rare disease, central precocious puberty (CPP) has increased in recent decades worldwide, both due to environmental factors, such as exposure to chemical compounds that disrupt the endocrine system (e.g. bisphenol A, phytoestrogens, phthalates and mercury), and due to better diagnosis and accessibility to treatment .
The problem is linked to the early activation of the “biological clock” caused by the secretion of gonadotropin-releasing hormone (GnRH). The treatment is carried out with compounds analogous to GnRH, i.e. substances similar to the natural hormone produced in the hypothalamus, which bind to the receptors and prevent their action. One of the few population studies on the topic was conducted in Denmark in 2005 and showed an incidence of five cases per 10,000 boys and 20 to 23 cases per 10,000 girls.
One genetic cause of the disorder was revealed by researchers from the Faculty of Medicine of the University of São Paulo (FM-USP) and foreign collaborators in study published in the journal The Lancet Diabetes & Endocrinology. In the article the authors describe the presence of mutations in the MECP2 gene – which codes for a protein of the same name important for neuronal development – in children with central precocious puberty with or without neurological anomalies considered mild, such as autism and microcephaly. .
Until then this type of genetic alteration had only been observed in people suffering from the so-called Rett syndrome, a serious neurological disorder that prevents speech and locomotion.
With the support of FAPESP, the team analyzed a group of 404 children (girls under 8 years old and boys under 9 years old with progressive pubertal signs) and found mutations in the MECP2 gene in seven girls who did not have significant neurocognitive abnormalities or who they did not present significant neurocognitive abnormalities. mild – very different from Rett syndrome.
Furthermore, a study in mice showed that the gene appears well expressed in neurons responsible for producing GnRH in the hypothalamus, which regulates the onset of puberty.
Genetic counseling and new treatments
“About 75% of cases of central precocious puberty are considered sporadic – that is, non-familial – and we have found a genetic cause in them”, comments Ana Pinheiro Machado Canton, author of the study and researcher at FM-USP. “The work therefore brings yet another causal factor to be studied and evaluated, including genetic counseling and monitoring of metabolic, psychological and reproductive development, to benefit children and families.”
The scientist also underlines the importance of the results for the study of new therapeutic approaches. “Even if the treatment already exists and is very effective, every time we identify factors of this magnitude we also open up a new line of study and research,” he says.
The group intends, for example, to evaluate more patients and investigate through which mechanisms the MECP2 protein regulates the onset of puberty.
The recently published work was carried out in collaboration with researchers from British universities (Queen Mary, Oxford, Imperial College London and Cambridge), North American universities (Harvard University), French universities (University of Paris) and Spanish universities (Autonoma de Madrid, Seville and Virgen de la Arrixaca).
Source: Terra
Ben Stock is a lifestyle journalist and author at Gossipify. He writes about topics such as health, wellness, travel, food and home decor. He provides practical advice and inspiration to improve well-being, keeps readers up to date with latest lifestyle news and trends, known for his engaging writing style, in-depth analysis and unique perspectives.
