Through research on precocious puberty and delayed puberty, NICHD aims to learn more about the complex interplay among the hypothalamus, pituitary gland, and male and female gonads—the body’s reproductive axis. To this end, NICHD performs and funds studies of the genetics, neurology, endocrinology, and biochemistry of the normal and disordered reproductive system as well as the etiology of reproductive diseases. The studies include efforts in both basic and clinical science.
The institute also supports training of professional investigators who can pursue and expand research in this field and funds academic and other research centers around the country that focus on reproductive endocrinology.
NICHD research efforts related to precocious and delayed puberty address these conditions specifically as well as more general aspects of puberty onset and sexual maturation in the context of improving children's health. Studies include efforts in the following areas:
- Etiology of precocious puberty. NICHD researchers explore the molecular and genetic pathways by which normal puberty and abnormal puberty take place. These researchers seek to understand the molecular mechanisms of activation, signaling, and function of the neuroendocrine chemical cascade that occurs in puberty.
- Diagnosis of pubertal problems. Research aids the development of chemical assay techniques that could definitively determine the onset of puberty and helps create new imaging techniques or refine old ones to detect abnormalities in internal organs.
- Treatments for precocious puberty. Basic and translational research contributes to developing strategies for treating problems of puberty.
- Clinical trials in precocious puberty. One area of clinical research is endocrine and genetic pediatric disorders associated with the predisposition to endocrine and other tumors. Researchers also study abnormal fetal and infant development that may affect the pituitary gland, adrenal glands, and related organs.
- Training of researchers. Comprehensive training in clinical patient management and guidance in the development of research skills are also priorities of the NICHD.
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 Branch (FIB) 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 FIB'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 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 FIB 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.
Sexual Differentiation in the Brain
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.
- In addition, NICHD supports training of researchers in the biomedical research of reproductive disorders, including precocious puberty and delayed puberty. Programs include: