Author Interviews, Endocrinology, Genetic Research, NYU/NYMC / 19.06.2017
Genetic Cause of Cushing’s Disease Detected
MedicalResearch.com Interview with:
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Dr. Stratakis[/caption]
Constantine A. Stratakis, MD, DMSci
Section on Endocrinology and Genetics
Eunice Kennedy Shriver National Institute of Child Health and Human Development
National Institutes of Health, Bethesda
MedicalResearch.com: What is the background for this study?
Response: The pituitary and adrenal glands operate on a kind of feedback loop. In response to stress, the pituitary release ACTH (Adrenocorticotropic hormone), which signals the adrenal glands to release cortisol. Rising cortisol levels then act on the pituitary, to shut down ACTH production. In a previous study, Jacque Drouin of the Institute for Clinical Research in Montreal and colleagues had determined that the CABLES1 protein was a key player in this feedback mechanism, switching off pituitary cell division in cultures exposed to cortisol. Since this feedback mechanism appears to be impaired in many corticotropinomas, we investigated the presence of Cables1 gene mutations and copy number variations in a large group of patients with Cushing’s disease.
Dr. Stratakis[/caption]
Constantine A. Stratakis, MD, DMSci
Section on Endocrinology and Genetics
Eunice Kennedy Shriver National Institute of Child Health and Human Development
National Institutes of Health, Bethesda
MedicalResearch.com: What is the background for this study?
Response: The pituitary and adrenal glands operate on a kind of feedback loop. In response to stress, the pituitary release ACTH (Adrenocorticotropic hormone), which signals the adrenal glands to release cortisol. Rising cortisol levels then act on the pituitary, to shut down ACTH production. In a previous study, Jacque Drouin of the Institute for Clinical Research in Montreal and colleagues had determined that the CABLES1 protein was a key player in this feedback mechanism, switching off pituitary cell division in cultures exposed to cortisol. Since this feedback mechanism appears to be impaired in many corticotropinomas, we investigated the presence of Cables1 gene mutations and copy number variations in a large group of patients with Cushing’s disease.






Maayan Yitshak Sade[/caption]
Maayan Yitshak Sade MPH
Chief Scientific Officer
Clinical Research Center,
Soroka University Medical Center, Israel and
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Dr. Victor Novack[/caption]
Victor Novack, MD, PhD
Soroka University Medical Center and Ben-Gurion University in Beer Sheva, Israel
MedicalResearch.com: What is the background for this study?
Response: Numerous studies found association between exposure the air pollution and increased risk of cardiovascular and respiratory diseases. In recent years links were found between air pollution and diabetes as well. The scientific evidence supports a causal association between air pollution and oxidative stress, possibly involving impaired metabolism of glucose and lipids. In a recent study performed by our group, we observed a significantly increased risk for ischemic stroke among young adults, associated with air pollution exposure. Following these findings, and as a part of the possible theory linking the association air pollution exposure and cardiovascular diseases, we sought to investigate if this association might be mediated through the well-established cardiovascular risk factors such as abnormal lipid and glucose metabolism.
Dr. Shinkai[/caption]
MedicalResearch.com Interview with:
Kanade Shinkai, MD PhD
Associate Professor of Clinical Dermatology
Director, Residency Program
Endowed Chair in Dermatology Medical Student Education
UCSF Department of Dermatology
San Francisco, CA 94115
Medical Research: What is the background for this study? What are the main findings?
Dr. Shinkai: Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder in the United States that has important skin manifestations including acne, hair loss, hirsutism, and acanthosis nigricans. We performed a retrospective cross-sectional study of women referred to a multidisciplinary PCOS clinic at UCSF to determine whether skin findings and systemic associations differ between women who meet diagnostic criteria for PCOS versus those suspected of having PCOS but do not meet diagnostic criteria. We found that women with PCOS commonly have skin findings, however, present across a broad spectrum of cutaneous manifestations.
Comparing the skin findings in women who meet diagnostic criteria for PCOS with women who are suspected of having PCOS suggests that it can be very difficult to distinguish a patient with PCOS based on skin findings alone. Hirsutism and acanthosis nigricans are the most helpful findings to suggest 






