C A Stratakis

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. Berthon A, Hannah Shmouni F, Maria A, Faucz F, Stratakis C. High expression of adrenal P450 aromatase (CYP19A1) in association with ARMC5-primary bilateral macronodular adrenocortical hyperplasia. J Steroid Biochem Mol Biol. 2019;: pubmed publisher
    ..We conclude that in select cases, PBMAH can be associated with aromatase expression resulting in elevated estrogens, irrespective of sex. Additionally, CYP19A1 expression may not depend on the ARMC5 variant status. ..
  2. Stratakis C. Research and development in the molecular genetics of pituitary adenomas and related tumors. Expert Rev Endocrinol Metab. 2012;7:593-598 pubmed publisher
    ..He was awarded the 2009 Ernst Oppenheimer Award of the Endocrine Society. Dr Stratakis has been the Scientific Director of the Eunice Kennedy Shriver National Institute of Child Health & Human Development since 2011. ..
  3. Kamilaris C, Stratakis C. An update on adrenal endocrinology: significant discoveries in the last 10 years and where the field is heading in the next decade. Hormones (Athens). 2018;17:479-490 pubmed publisher
    ..Thus, the challenge for the next 10 years is to translate the important discoveries of the previous decade into substantial advances in the treatment of adrenal disorders and tumors. ..
  4. Tirosh A, Valdés N, Stratakis C. Genetics of micronodular adrenal hyperplasia and Carney complex. Presse Med. 2018;47:e127-e137 pubmed publisher
    ..This review summarizes older and recent findings on the genetics and pathophysiology of MiBAH, PPNAD, and related disorders. ..
  5. Uppal S, Jee Y, Lightbourne M, Han J, Stratakis C. Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst. Hormones (Athens). 2017;16:92-98 pubmed publisher
    ..We report the first case in the literature of a girl with 48, XXXX and combined pituitary hormone deficiency due to Rathke's cyst. ..
  6. Hannah Shmouni F, Stratakis C. An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency. Rev Endocr Metab Disord. 2018;19:53-67 pubmed publisher
  7. Hernández Ramírez L, Stratakis C. Genetics of Cushing's Syndrome. Endocrinol Metab Clin North Am. 2018;47:275-297 pubmed publisher
  8. Stratakis C. New genes and/or molecular pathways associated with adrenal hyperplasias and related adrenocortical tumors. Mol Cell Endocrinol. 2009;300:152-7 pubmed publisher
  9. Szarek E, Ball E, Imperiale A, Tsokos M, Faucz F, Giubellino A, et al. Carney triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria. Endocr Relat Cancer. 2015;22:345-52 pubmed publisher
    ..Thus, the still-elusive CTr defect(s) is(are) likely to affect mitochondrial function, just like germline SDH-deficiency does. ..

More Information

Publications34

  1. Correa R, Salpea P, Stratakis C. Carney complex: an update. Eur J Endocrinol. 2015;173:M85-97 pubmed publisher
  2. request reprint
    Stratakis C, Bossis I. Genetics of the adrenal gland. Rev Endocr Metab Disord. 2004;5:53-68 pubmed
  3. Kirschner L, Stratakis C. 5th International ACC Symposium: The New Genetics of Benign Adrenocortical Neoplasia: Hyperplasias, Adenomas, and Their Implications for Progression into Cancer. Horm Cancer. 2016;7:9-16 pubmed publisher
  4. Stratakis C. cAMP/PKA signaling defects in tumors: genetics and tissue-specific pluripotential cell-derived lesions in human and mouse. Mol Cell Endocrinol. 2013;371:208-20 pubmed publisher
    ..Discoveries in animal studies complemented a number of clinical observations in patients. Gene identification continued in parallel with mouse and other studies on the cAMP signaling and other pathways. ..
  5. Stratakis C. An update on Cushing syndrome in pediatrics. Ann Endocrinol (Paris). 2018;79:125-131 pubmed publisher
    ..This report reviews the state-of-the-art in diagnosing CS and provides an update on the most recent discoveries in its genetics and treatment. ..
  6. Stratakis C. Skin manifestations of Cushing's syndrome. Rev Endocr Metab Disord. 2016;17:283-286 pubmed
    ..Typically, the severity of the manifestations does not correlate with the biochemical indices of the disease, pointing to age, gender, genetic and skin-type differences that determine the cutaneous manifestations of CS. ..
  7. Saloustros E, Salpea P, Starost M, Liu S, Faucz F, London E, et al. Prkar1a gene knockout in the pancreas leads to neuroendocrine tumorigenesis. Endocr Relat Cancer. 2017;24:31-40 pubmed
    ..In conclusion, this mouse model supports the role of prkar1a as a tumor suppressor gene in the pancreas and points to the PKA pathway as a possible therapeutic target for these lesions. ..
  8. Angelousi A, Zilbermint M, Berthon A, Espiard S, Stratakis C. Diagnosis and Management of Hereditary Adrenal Cancer. Recent Results Cancer Res. 2016;205:125-47 pubmed publisher
    ..In these conditions, genetic counselling plays an important role for the early detection and follow-up of the patients and the affected family members. ..
  9. Hannah Shmouni F, Trivellin G, Stratakis C. Genetics of gigantism and acromegaly. Growth Horm IGF Res. 2016;30-31:37-41 pubmed publisher
    ..In this review, we provide a concise and up-to-date discussion on the genetics of gigantism and acromegaly. ..
  10. Stratakis C. Carney complex: A familial lentiginosis predisposing to a variety of tumors. Rev Endocr Metab Disord. 2016;17:367-371 pubmed
    ..Other tumors associated with Carney complex include: 1) myxomas of the heart, breast and other sites; 2) psamommatous melanotic schwannomas which can become malignant; 4) a predisposition to a variety of cancers. ..
  11. Stratakis C. Hereditary syndromes predisposing to endocrine tumors and their skin manifestations. Rev Endocr Metab Disord. 2016;17:381-388 pubmed
    ..In this review, we present extensively the MEN-1, MEN-2 and PJS syndromes, and briefly refer to CD, NF-1, and TSC. CNC is discussed in another article in this journal issue. ..
  12. Papadakis G, Millo C, Stratakis C. Benign hormone-secreting adenoma within a larger adrenocortical mass showing intensely increased activity on 18F-FDG PET/CT. Endocrine. 2016;54:269-270 pubmed
    ..Right adrenalectomy was performed and histology revealed a benign adenoma, indicating that functioning benign adenomas can show intensely increased metabolic activity on 18F-FDG mimicking malignancy. ..
  13. Bandettini W, Karageorgiadis A, Sinaii N, Rosing D, Sachdev V, Schernthaner Reiter M, et al. Growth hormone and risk for cardiac tumors in Carney complex. Endocr Relat Cancer. 2016;23:739-46 pubmed publisher
    ..We speculate that treatment of GH excess in patients with CNC may reduce the likelihood of cardiac myxoma formation and/or recurrence of this tumor. ..
  14. Tatsi C, Stratakis C. Neonatal Cushing Syndrome: A Rare but Potentially Devastating Disease. Clin Perinatol. 2018;45:103-118 pubmed publisher
    ..Management usually includes resection of the primary tumor with or without additional medical treatment, but manifestations may persist after resolution of hypercortisolemia. ..
  15. Stratakis C. Diagnosis and Clinical Genetics of Cushing Syndrome in Pediatrics. Endocrinol Metab Clin North Am. 2016;45:311-28 pubmed publisher
    ..CS should be recognized early in children; otherwise, it can lead to significant morbidity and mortality. Patients with suspected CS should be referred to specialized clinical centers for workup. ..
  16. Saloustros E, Liu S, Mertz E, Bhattacharyya N, Starost M, Salpea P, et al. Celecoxib treatment of fibrous dysplasia (FD) in a human FD cell line and FD-like lesions in mice with protein kinase A (PKA) defects. Mol Cell Endocrinol. 2017;439:165-174 pubmed publisher
    ..We speculate that COX-2 inhibitors offer an attractive alternative to current treatments for benign tumors such as OMX and FD that, apart from tumor suppression, may mechanically stabilize affected bones. ..
  17. Liu S, Saloustros E, Mertz E, Tsang K, Starost M, Salpea P, et al. Haploinsufficiency for either one of the type-II regulatory subunits of protein kinase A improves the bone phenotype of Prkar1a+/- mice. Hum Mol Genet. 2015;24:6080-92 pubmed publisher
  18. Hernández Ramírez L, Gam R, Valdés N, Lodish M, Pankratz N, Balsalobre A, et al. Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease. Endocr Relat Cancer. 2017;24:379-392 pubmed publisher
    ..Further studies are needed to assess the prevalence of CABLES1 mutations among patients with other types of pituitary adenomas and to elucidate the pituitary-specific functions of this gene. ..
  19. Alrezk R, Hannah Shmouni F, Stratakis C. MEN4 and CDKN1B mutations: the latest of the MEN syndromes. Endocr Relat Cancer. 2017;24:T195-T208 pubmed publisher
    ..In this review, we report on the genetic characterization and clinical features of MEN4. ..
  20. Saloustros E, Salpea P, Qi C, Gugliotti L, Tsang K, Liu S, et al. Hematopoietic neoplasms in Prkar2a-deficient mice. J Exp Clin Cancer Res. 2015;34:143 pubmed publisher
    ..Prkar2a deficiency predisposes to hematopoietic malignancies in vivo. RIIα's likely association with HS and DLBCL was hitherto unrecognized and may lead to better understanding of these rare neoplasms. ..
  21. Stratakis C, Carney J. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications. J Intern Med. 2009;266:43-52 pubmed publisher
  22. Stratakis C, Tichomirowa M, Boikos S, Azevedo M, Lodish M, Martari M, et al. The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes. Clin Genet. 2010;78:457-63 pubmed publisher
    ..Thus, germline AIP or MEN1 gene mutations are frequent among pediatric patients with GH- or PRL-secreting PA but are significantly rarer in pediatric CD; PRKAR1A mutations are not present in PA outside of Carney complex. ..
  23. Stratakis C. Cushing syndrome in pediatrics. Endocrinol Metab Clin North Am. 2012;41:793-803 pubmed publisher
    ..Barriers to optimal care of a pediatric patient with Cushing syndrome are discussed. ..
  24. Trivellin G, Bjelobaba I, Daly A, Larco D, Palmeira L, Faucz F, et al. Characterization of GPR101 transcript structure and expression patterns. J Mol Endocrinol. 2016;57:97-111 pubmed publisher
    ..These findings suggest an important role for GPR101 in brain and pituitary development and likely reflect the very different growth, development and maturation patterns among species. ..
  25. Berthon A, Faucz F, Bertherat J, Stratakis C. Analysis of ARMC5 expression in human tissues. Mol Cell Endocrinol. 2017;441:140-145 pubmed publisher