Through its intramural and extramural organizational units, the NICHD supports and conducts a broad range of research on precocious and delayed puberty. Short descriptions of some of this research are included below.
The Unit on Genetics of Puberty and Reproduction, in the NICHD's Division of Intramural Research (DIR), conducts research on the genetic basis of sexual maturation. In particular, researchers are examining the ways in which mutations in genes linked to pubertal development can lead to disorders of puberty and reproduction. For example, in a condition known as hypogonadotropic hypogonadism, the gonads—testes in males or ovaries in the female—do not release enough hormones and can fail to mature. The NICHD conducts clinical research to understand this rare disorder and devise better care for those it affects. Learn more about the Unit's research.
Research supported through the Fertility and Infertility (FI) Branch was crucial for the discovery of the GPR54 gene's role in puberty. This gene controls the complex signaling between the brain and the reproductive organs that spur development in puberty. With the FI Branch's support, researchers continue to investigate genetic and hormonal signals that drive puberty and underlie human fertility using imaging data, blood tests, genetic screens, and animal models.
Funds provided by the NICHD are supporting a wide array of studies on the complex biochemical pathways linking the endocrine and nervous systems in order to shed light on human reproductive disorders. The Pediatric Growth and Nutrition Branch (PGNB) supports research into the regulation of hormones during pivotal times of development, including the postnatal "critical period" and puberty. Investigators are exploring the biology of puberty onset to determine what signals in the brain and throughout the rest of the body trigger the start of this process.
The Division of Intramural Population Health Research (DIPHR) conducts research on the hormonal indicators of puberty and how they are linked to physical changes during adolescence. These investigations aim to answer such questions as whether children go through puberty earlier now than they did generations ago. Studies also explore the effect of exposure to certain environmental conditions, such as the presence of lead, on the timing of puberty. Researchers have found that a delay in the onset of puberty is more common among girls with high blood levels of lead and cadmium.
Funding from the FI Branch supports investigations into normal and disordered function of the hypothalamic-pituitary-ovarian axis using mouse models of precocious puberty.
In addition, DIR researchers have tested several drug treatments for precocious puberty in boys.
The FI Branch supports research exploring brain function and how the brain helps control sexual maturation, including how sex steroids released by the gonads impact the pivotal neural circuits in the brain to help differentiate them into their male and female versions.
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