Institute Activities and Advances
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:
- Studying congenital adrenal hypoplasia caused by triple A syndrome and several endocrine deficiencies; familial hyperaldosteronism; adrenocortical and thyroid cancer; pituitary tumors; multiple endocrine neoplasia syndromes affecting the pituitary, thyroid, and adrenal glands; and the Carney complex (CNC), a multisystem disease that is a combination of endocrine overactivity, spotty skin pigmentation, myxomatosis, and other tumors
- Identifying the chromosome on which the genes for CNC are located, and searching for other possible locations
- Investigating the relationship between these locations and CNC
- Using cell lines established from CNC patients to investigate the consequences of mutations of PRKAR1A, the gene responsible for most cases of CNC
- Using transgenic mouse models to study the role of the PRKAR1A gene
- Identifying novel genetic abnormalities in certain endocrine glands
- Identifying a new syndrome known as "paraganglioma and gastrointestinal stromal tumor syndrome" and a previously unknown mutation of the PDFGRA gene
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.
Other Activities and Advances
- The biennial Conference on the Adrenal Cortex is for basic and clinical scientists and clinicians with specific interests in the adrenal cortex. Authorities in the field present current findings on topics related to the adrenal cortex. Co-sponsors include the NICHD Program on Developmental Endocrinology and Genetics in the DIR.
- The Pediatric Endocrinology Training Program is a 3-year program accredited by the Accreditation Council for Graduate Medical Education. It provides comprehensive training in clinical patient management and guidance in the development of research skills. The fellowship is at the NICHD and based at the NIH Clinical Center, which maintains clinical research protocols investigating the treatment of adrenal and pituitary tumors, Cushing's syndrome, obesity, and other conditions.
- The Reproductive Scientist Development Program (RSDP) is a multidisciplinary, multi-institutional research career development program for obstetrician-gynecologists studying cell and/or molecular biology and genetics and related fundamental sciences. The RSDP, sponsored jointly by the NICHD's Fertility and Infertility (FI) Branch and other entities, helps academic obstetrics and gynecology departments increase research and discovery in the reproductive sciences.
- The Specialized Cooperative Centers Program in Reproduction and Infertility Research (SCCPIR) is a national network of centers focused on improving human reproductive health through accelerated transfer of basic science findings into clinical practice. The SCCPIR is a research-based centers program supported through the FI Branch and designed to promote multidisciplinary interactions between basic and clinical scientists. Several centers focus on diseases/disorders of the female reproduction system that may affect women who have undergone treatment for tumors in Cushing's syndrome.
- Eunice Kennedy Shriver National Institute of Child Health and Human Development. (2010). 2010 annual report of the Division of Intramural Research: Diagnosis, localization, pathophysiology, and molecular biology of pheochromocytoma and paraganglioma. Retrieved June 23, 2012, from http://2010annualreport.nichd.nih.gov/smn2.html [top]
- Zhuang, Z., Yang, C., Lorenzo, F., Merino, M., Fojo, T., Kebebew, E., et al. (2012). Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia. New England Journal of Medicine, 367(10), 922–930. PMID: 22931260 [top]