Pituitary tumors and other endocrine tumors lead to a variety of health problems in adults and children. NICHD research efforts include uncovering the genetic abnormalities and molecular mechanisms that underlie the development of pituitary tumors and related syndromes. Clinical studies in progress aim to uncover methods for diagnosing, managing, and treating pituitary tumors in children. The institute also supports professional training and the development of research infrastructure that will facilitate investigations into childhood pituitary tumors.
NICHD research efforts related to pituitary tumors address the development of the pituitary gland itself as well as the development of pituitary tumors. Studies include efforts to understand:
- Basic science of pituitary gland development. Studies have identified transcription factors and signaling molecules involved in pituitary development; efforts have also involved the characterization of pituitary stem cells.
- Mechanisms of tumor development. Research has involved the development of mouse models of pituitary adenomas, examination of mutations that lead to the absence or underdevelopment of the pituitary gland or to tumors, and discovery of genes involved in pituitary dysfunction.
- Clinical characterization of childhood pituitary tumors and related disorders. Goals of clinical research involve training young physicians in childhood endocrine disease, developing methods for the diagnosis and treatment of tumors, and identifying genes involved in tumor development.
Pituitary tumors and other endocrine tumors lead to a variety of health problems in adults and children. NICHD research efforts aim to uncover the genetic abnormalities and molecular mechanisms that contribute to the development of pituitary tumors and related syndromes. Clinical studies aim to uncover methods of diagnosing, managing, and treating pituitary tumors in children.
The institute also supports professional training and the development of research infrastructure that will facilitate investigations into childhood pituitary tumors.
NICHD research efforts related to pituitary tumors address the development of the pituitary gland itself as well as the development of pituitary tumors. Studies include efforts to understand the genetic, molecular, and cellular mechanisms of pituitary gland development. Using animal models, the Institute aims to document the gene mutations that lead to pituitary tumors. Studies in humans focus on genetic variations as well as diagnostic and therapeutic approaches to treating children and adults with pituitary tumors.
This research is supported in part through NICHD's Developmental Biology and Structural Variation Branch (DBSVB), which focuses on the causes and prevention of congenital and genetic defects. Branch-supported research includes studies of:
- Genes and signaling molecules that lead to abnormal growth of pituitary cells
- Animal models to determine the role of particular genes and molecules in both normal pituitary development and the development of pituitary tumors
- Approaches relying on bioinformatics and on genomics to find novel genes involved in the development of pituitary tumors
Additionally, the Pediatric Growth and Nutrition Branch (PGNB) supports research on nutritional science, childhood antecedents of adult disease, developmental endocrinology, developmental neuroendocrinology, and physical growth and body composition, including bone health and obesity. The PGNB has supported research on the function and genetics of stem cells in the pituitary gland. Elucidating the dynamics of pituitary stem cells may lead to a better understanding of how pituitary tumors develop.
The Fertility and Infertility Branch (FIB) supports scientific research aimed at alleviating human infertility, uncovering new leads on contraceptives, and expanding fundamental knowledge of the processes that underlie human reproduction. Research supported by the FI Branch has examined molecular and genetic mechanisms underlying the abnormal production of reproductive hormones as well as signaling in pathways involving the pituitary gland that affect male and female fertility.
Further research is being conducted within the Section on Endocrinology and Genetics (SEGEN), which is part of the Program on Developmental Endocrinology and Genetics (PDEGEN) in NICHD's Division of Intramural Research. Researchers are investigating the genetics of rare endocrine disorders, including diseases that can lead to pituitary tumors. SEGEN scientists discovered how a mutation in the PRKAR1A gene can contribute to the development of Carney complex, a rare disorder characterized by tumors in the adrenal glands, heart, connective tissue, pituitary, and other glands.
NICHD supports several research and clinical training programs for physicians. These programs are part of NIH-wide or collaborative efforts in which NICHD participates. The training programs for pituitary research are listed below.
- The NICHD-NIDDK Inter-Institute Endocrine Training Program (IETP) seeks to train internal medicine physicians to become first-rate endocrinologists who seek investigative careers. The fellowship is ideal for physicians who seek a broad education in both research and clinical endocrinology. The National Institute of Diabetes and Digestive and Kidney Diseases, through its Diabetes Branch, Metabolic Diseases Branch, Clinical Endocrinology Branch, and Islet Autoimmunity Branch; NICHD (PDEGEN and the Program in Reproductive and Adult Endocrinology); and National Institute of Dental and Craniofacial Research participate in this program, with faculty from all three Institutes.
- The NICHD Medical Genetics Training Fellowship Program is a clinical fellowship training in medical and/or pediatric genetics as a single program or in conjunction with training in pediatric endocrinology (and/or internal medicine and endocrinology) is offered through the PDEGEN. Training in genetics is offered through PDEGEN’s participation in the medical genetics fellowship programs of the NIH led by the National Human Genome Research Institute.
- The Pediatric Endocrinology Inter-Institute Training Program is a 3-year program accredited by the Accreditation Council for Graduate Medical Education that provides comprehensive training in clinical patient management as well as guidance in the development of research skills. The fellowship is at NICHD and based at the NIH Clinical Center. The Clinical Center maintains clinical research protocols investigating the treatment of adrenal and pituitary tumors, congenital adrenal hyperplasia, Turner syndrome, McCune-Albright syndrome, Cushing's syndrome, obesity, and other important disorders.