Study Shows Precocious Puberty Can Be Diagnosed By Genetic Testing
A study carried out with the participation of Professor Ana Claudia Latronico, from the Faculty of Medicine of USP (FMUSP), identified four rare variants in heterozygosis, possibly responsible for precocious puberty. The research results were published in The Lancet Diabetes & Endocrinology , and represent a major advance in understanding these hormonal disorders.
Ana Claudia is also a researcher at the Laboratory of Hormones and Molecular Genetics at Hospital das Clínicas da FMUSP and states that USP played an important role in coordinating the study that involved six research centers.
About hormonal disorder
Ana Claudia explains what precocious puberty is all about and its high incidence worldwide. “In females, breasts appear before age 8 or menstruation before age 9. In boys, the signs that also happen before the age of 9 are the appearance of hair, penile enlargement and testicular volume increase”, comments the teacher.
The teacher also clarifies that the study was carried out in both girls and boys, but, proportionally, more girls were analyzed, as there is a tenfold higher incidence of cases. According to Ana Claudia, among the 400 patients who participated, 380 were female. Still regarding the sample in the surveys, the researcher comments that, in addition to Brazilians, Americans, Spaniards and French participated.
Treatment and consequences
“If the treatment does not take place, the main side effect is short stature, sometimes with a reduction of 10 to 20 centimeters”, warns the professor. Thus, in general, treatment is performed using safe and effective drugs that specifically inhibit hormonal action in the pituitary gland.
In addition, the researcher also warns of the need to perform magnetic resonance imaging as soon as the diagnosis is made, since tumors and congenital malformations in the hypothalamus region represent relevant causes of precocious puberty. Another consequence of the disease mentioned is the greater risk of metabolic diseases, such as diabetes and obesity, as well as psychological ones, such as anxiety and bulimia.
Pioneering spirit
The cause of this disease, unknown to the medical community for years, was specified by pioneering studies at USP “They now show a genetic component more specifically involving the X chromosome and genetic alterations in an area called Mac P2”, says Ana Claudia.
Thus, according to the researcher, perhaps the greatest gain from this discovery is the early diagnosis based on a genetic test. Thus, the discovery of a case in the family may already raise the suspicion of others who will be followed up more closely, even if they are asymptomatic.
Furthermore, in a longer term setting this study may lead to a more accurate treatment of precocious puberty. “What we call precision medicine today, when you recognize a type of defect and there is a localized intervention”, comments Ana Claudia. Another promising path also raised is the production of drugs that can act specifically.