IMPE Abstracts

Osteogenesis imperfecta (OI) is a genetic disease characterized by alterations in type I collagen, which determine a broad spectrum of clinical alterations. Although there is no specific treatment, drugs of the bisphosphonate class are used with the aim of improving bone quality with a reduction in fracture events and a gain in quality of life. In Brazil, current protocols use pamidronate, a second-generation bisphosphonate. The use of zoledronic acid, a third-generation bisph...

Context: Premature adrenarche in girls is defined biochemically by an increase in adrenal androgen (DHEA and DHEAS) levels above the age-specific reference range before age 8 years. Recently, increased levels of 11-oxyandrogens have also been observed in girls with premature adrenarche. On the other hand, epigenetic control of some genes that code for enzymes that participate in the synthetic pathway to 11-oxyandrogens (e.g., CYP11B1) has been describ...