Analysis of international data from girls with idiopathic central precocious puberty helped researchers identify a genetic variant associated with the neurodevelopmental condition, Rett syndrome.
Portrait of a girl.
In a new joint study, scientists from Queen Mary University of London have made a breakthrough in understanding the genetic causes of central precocious puberty. Their findings, published in The Lancet, reveal that mutations in the gene MECP2 have been identified in a large cohort of girls with this condition, providing vital insights that could enable precise genetic diagnosis and appropriate counselling for patients and families with the condition.
Central precocious puberty is a rare condition characterised by the early onset of puberty, typically before the age of eight in girls. It can have profound physical and psychological effects on affected individuals. This recent study sheds new light on the subject.
This translational cohort study, brought together participants from five countries: Brazil, Spain, France, the USA, and the UK. Researchers specifically targeted individuals with idiopathic central precocious puberty and through extensive genetic analysis, they uncovered a link between mutations in the MECP2 gene and the onset of central precocious puberty.
MECP2 is a gene that is widely associated with Rett syndrome, a severe neurodevelopmental disorder primarily affecting girls. Rett syndrome leads to significant cognitive and physical disabilities and is rarely observed in boys. Although some patients in this study displayed mild neurodevelopmental features, it is important to note that none exhibited the typical symptoms associated with Rett syndrome, such as language and motor skill regression and stereotypical movements.
The identification of MECP2 mutations in individuals with central precocious puberty, despite the absence of Rett syndrome features, suggests a distinct role for this gene in the early onset of puberty. These findings have significant implications for the field of paediatric endocrinology, as they provide crucial information for precise genetic diagnosis, appropriate counselling, and potentially targeted treatments for patients and families affected by central precocious puberty.
Dr Sasha Howard, study author and senior lecturer in Paediatric Endocrinology at Queen Mary University of London said: “This is only the fifth gene to be identified as underlying central precious puberty, and helps to shed light on the control of pubertal timing. It further highlights the importance of upstream genetic and epigenetic regulation of the hypothalamic-pituitary hormone networks which govern the onset of puberty.
“As genetic screening becomes more accessible and affordable, gene discoveries such as these will offer new hope for precise genetic diagnosis and comprehensive counselling, benefiting both patients and families with precocious puberty”.
While further investigation is necessary to fully understand the link between MECP2 mutations and central precocious puberty, this collaborative study serves as a promising starting point for future research. With the potential for more accurate genetic diagnoses and tailored interventions, the findings could improve outcomes and a better quality of life for individuals affected by central precocious puberty and their families.