Mini review

A Simple Complex Case: Restoration of Circadian Cortisol Activity

  • Received: 17 February 2015 Accepted: 07 August 2015 Published: 15 August 2015
  • A 38-year-old librarian with confirmed Carney complex (PRKAR1a mutation) was referred for further evaluation of ACTH-independent Cushing's syndrome. Previously, she was known to have schwannoma (excised), adenomyoepithelioma and normal annual echocardiograms. Over three years prior to current presentation, she had become aware of coarse hair on her chin and abdomen, as well as centripetal weight gain. She had noticed subtle but definite reduction in her girdle muscle strength. She had acquired some mood changes atypical of her personality, and had developed an interrupted sleep pattern. To our knowledge, this is the first published report of circadian RU486 therapy for PPNAD in a patient with Carney complex. It may have been possible to restore low levels surrounding the midnight hours using other agents, but the side-effect profile and lack of significantly elevated levels of cortisol made them less favorable options.

    Citation: Ragini C Bhake, Stafford L Lightman. A Simple Complex Case: Restoration of Circadian Cortisol Activity[J]. AIMS Medical Science, 2015, 2(3): 182-185. doi: 10.3934/medsci.2015.3.182

    Related Papers:

  • A 38-year-old librarian with confirmed Carney complex (PRKAR1a mutation) was referred for further evaluation of ACTH-independent Cushing's syndrome. Previously, she was known to have schwannoma (excised), adenomyoepithelioma and normal annual echocardiograms. Over three years prior to current presentation, she had become aware of coarse hair on her chin and abdomen, as well as centripetal weight gain. She had noticed subtle but definite reduction in her girdle muscle strength. She had acquired some mood changes atypical of her personality, and had developed an interrupted sleep pattern. To our knowledge, this is the first published report of circadian RU486 therapy for PPNAD in a patient with Carney complex. It may have been possible to restore low levels surrounding the midnight hours using other agents, but the side-effect profile and lack of significantly elevated levels of cortisol made them less favorable options.


    加载中
    [1] Milner MR, Semmes L, Silverman A, et al. (1990) Familial Cushing's Syndrome (“Carney Complex”). New Eng J Med 322 (20): 1469-1470
    [2] Carney JA, Young Jr, WF (1992) Primary pigmented nodular adrenocortical disease and its associated conditions. The Endocrinologist 2(1): 6-21
    [3] Stratakis CA (1998) Carney Complex: Diagnosis and management of the complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas. Am J Med Genet 80: 183-185 doi: 10.1002/(SICI)1096-8628(19981102)80:2<183::AID-AJMG19>3.0.CO;2-I
    [4] Stratakis CA, Kirschner LS, Carney JA (2001) Clinical and molecular features of the Carney complex: Diagnostic criteria and recommendations for patient evaluation. J Clin Endocr Metab 86(9): 4041-4046
    [5] Anselmo J, Medeiros S, Carneiro V, et al. (2012) A large family with Carney complex caused byS147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer. J Clin Endocr Metab 97: 351-359 doi: 10.1210/jc.2011-2244
    [6] Bertherat J (2006) Carney complex. Orphanet J Rare Dis 1:21 doi:10.1186/1750-1172-1-21 doi: 10.1186/1750-1172-1-21
    [7] Stratakis CA, Sarlis N, Kirschner LS, et al. (1999) Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease. Ann Int Med 131: 585-591
    [8] Sarlis NJ, Chrousos GP, Doppman JL, et al. (1997) Primary pigmented nodular adrenocortical disease: Reevaluation of a patient with Carney complex 27 years after unilateral adrenalectomy. J Clin Endocr Metab 82: 1274-1278 doi: 10.1210/jcem.82.4.3857
    [9] Schteingart DE (2009) Drugs in the medical treatment of Cushing's syndrome. Expert Opinion Emer Drug 14(4): 661-671
    [10] Porpiglia F, Fiori C, Bovio S, et al. (2004) Bilateral adrenalectomy for Cushing's syndrome: A comparison between laparoscopy and open surgery. J Endoc Invest 27: 654-658 doi: 10.1007/BF03347498
    [11] Fleseriu M, Biller BMK, Findling JW, et al. (2012) Mifepristone, a glucocorticoid receptor antagonist, produces clinical and metabolic benefits in patients with Cushing's syndrome. J Clin Endoc Metab 97 (6): 2039-2049
    [12] Castinetti F, Fassnacht M, Johanssen S, et al. (2009) Merits and pitfalls of mifepristone in Cushing's syndrome. Eur J Endoc 160: 1003-1010
    [13] Stavreva DA, Wiench M, John S, et al. (2009) Ultradian hormone stimulation induces glucocorticoid receptor-mediated pulses of gene transcription. Nat Cell Biol 11(9): 1093-1102
  • Reader Comments
  • © 2015 the Author(s), licensee AIMS Press. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0)
通讯作者: 陈斌, bchen63@163.com
  • 1. 

    沈阳化工大学材料科学与工程学院 沈阳 110142

  1. 本站搜索
  2. 百度学术搜索
  3. 万方数据库搜索
  4. CNKI搜索

Metrics

Article views(3489) PDF downloads(832) Cited by(0)

Article outline

Other Articles By Authors

/

DownLoad:  Full-Size Img  PowerPoint
Return
Return

Catalog