Through its intramural and extramural organizational units, the NICHD supports and conducts a broad range of research on adrenal gland disorders.
Much of this research is conducted through the Section on Endocrinology and Genetics, which is part of the NICHD Division of Intramural Research (DIR). Researchers in this Section study the genetic and molecular mechanisms leading to disorders that affect the adrenal cortex, with an emphasis on those disorders that are developmental, hereditary, and associated with adrenal hypoplasia or hyperplasia, multiple tumors, and abnormalities in other endocrine glands. Work supported by this Section includes:
Within the Section on Medical Neuroendocrinology, also part of the DIR, scientists conduct patient-oriented research into the causes, functions, genetics, diagnosis, location, and treatment of pheochromocytoma and paraganglioma. One recent study assessed whether the size of adrenal tumors plays a role in the development of metastatic disease (disease that moves or spreads from one organ or tissue to another) regardless of the genetic background of these tumors.1 In another study, researchers discovered an alteration in the HIF2A gene that was associated with growth of pheochromocytomas in two patients. The finding could lead to information on how to hinder the growth of tumors and treat cancers associated with excessive production of red blood cells.2
The Section on Reproductive Endocrinology, another unit within the DIR, focuses on adrenal gland disorders and disorders of female reproduction. Researchers in this section are evaluating the usefulness of basal cortisol and corticotrophin-releasing hormone testing for the prediction of recurrent Cushing's disease.
Through programs of the DIR's Laboratory of Clinical and Developmental Genomics, the NICHD supports training for clinicians so that they are better prepared to diagnose and treat genetic disorders, as well as provides comprehensive evaluations and care for patients with suspected or diagnosed genetic conditions.
Within the DIR Program on Developmental Endocrinology and Genetics, investigators aim to characterize the genotypes of parents of children with congenital adrenal hyperplasia (CAH) and to examine the structure and function of the adrenal glands in these patients. Research also has been conducted to assess complications linked to the disorder, such as hypoglycemia and insulin resistance, and to test new versions of medications intended for use as treatments.
The Pediatric Growth and Nutrition Branch (PGNB), within the Division of Extramural Research , has supported research about genetic and molecular mechanisms of adrenal gland hyperplasia, prenatal screening for the disorder, and prenatal treatment of classic CAH with dexamethasone. The PGNB also has supported studies to characterize novel mutations in genes for enzymes involved in CAH.
In addition, the Developmental Biology and Structural Variation Branch advances research with animal models to understand typical pituitary development, as well as growth of pituitary tumors, and investigates the genetic basis of tumor development.
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