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Cushing Syndrome: Research Activities and Scientific Advances

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In Cushing's syndrome, the earlier treatment begins, the less harmful the disease is to the body. However, Cushing's syndrome is complex and difficult to diagnose. It has a wide range of symptoms that mimic those of other conditions, and the severity of the syndrome can fluctuate. Through its numerous research projects, the NICHD aims improve understanding of Cushing's syndrome and, ultimately, to bring faster diagnoses and more effective treatment.

Institute Activities and Advances

Some NICHD research is aimed at devising new tests and tools to help health care providers screen and diagnose individuals with Cushing's syndrome. Much of this research into tools and tests is supported through the NICHD's Section on Reproductive Endocrinology (SRE), in the Division of Intramural Research (DIR). Work by the section includes:

  • Establishing the corticotropin-releasing hormone test and inferior petrosal sinus sampling as major diagnostic tools for identifying pituitary adenomas causing Cushing's syndrome.
  • Improving understanding of how pregnancy affects a woman's circulating amount of both cortisol and ACTH and fine-tuning criteria used for interpreting diagnostic tests in pregnancy.
  • Investigating widespread screening for Cushing's syndrome in obese patients. Research demonstrated a high rate of false positives, which was used to advise against such screening. Researchers are now checking whether metabolic syndrome screening would be helpful.
  • Improving understanding of cycling—disappearing and reappearing symptoms—which can disrupt attempts to diagnose Cushing's syndrome. Researchers have found that cycling is prevalent in individuals with mild Cushing's syndrome and recommend testing more than once, even after a negative result.
  • Finding hidden adrenal tumors that are not identified by computed tomography (CT) scans and magnetic resonance imaging (MRI) tools in 30% to 50% of the cases of Cushing's syndrome. Researchers are studying whether refinements to current tools or the use of other types of imaging studies can improve detection of these ectopic tumors.

Some people appear to be more likely to develop certain types of tumors. The NICHD's Section on Endocrinology and Genetics (SEGEN) is trying to identify genes that might be involved—and how that involvement unfolds—in several disorders of the adrenal and pituitary glands, as well as for multiple endocrine neoplasia syndromes that involve those glands.

Although identifying who has, or is more at risk for having, Cushing's syndrome is key to successful treatment, researchers are also concerned with monitoring lingering effects from Cushing's syndrome—even after cure. Researchers in many different parts of the NICHD are examining the long-term impact of Cushing's syndrome. Key research projects include the following:

  • Cognition might be permanently affected by Cushing's syndrome, so SEGEN researchers investigated memory impairment and depression in children. They found that children had declines in intelligence measures and school performance even after successful treatment of their Cushing's syndrome.
  • Tumors causing Cushing's syndrome sometimes require radiation and chemotherapy. Researchers in the DIR's Unit on Reproductive Endocrinology and Infertility are collaborating in investigations of how to preserve ovarian function in women and girls undergoing cancer treatment.
  • Although cured of Cushing's syndrome, some individuals do not recover as quickly as others, whether physically or mentally. The SRE collaborated on research that found that the quality of life improves in the first 5 years after treatment but may remain subnormal for up to 15 years, suggesting the need for long-term monitoring of former patients.
  • Chronic Cushing's syndrome undermines bone strength, but treatment stops the bone weakening. To assess how bones of children are affected, NICHD researchers in the Unit on Hormones of Cancer (UHC) studied children before and after treatment and found vertebral bone mineral density was undermined more than femoral density.

Other Activities and Advances

To achieve its goals for Cushing's syndrome research, the NICHD supports a number of research and clinical training programs for physicians. These programs are part of NIH-wide or other collaborative efforts in which the NICHD participates. Examples are listed below.

  • The Pediatric Endocrinology Inter-Institute Training Program fellowship 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 program, 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.
Last Updated Date: 11/30/2012
Last Reviewed Date: 11/30/2012
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