A Simple Complex Case: Restoration of Circadian Cortisol Activity

Ragini C Bhake; Stafford L Lightman; Ragini C Bhake; Stafford L Lightman

doi:10.3934/medsci.2015.3.182

AIMS Medical Science

2015, Volume 2, Issue 3: 182-185. doi: 10.3934/medsci.2015.3.182

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A Simple Complex Case: Restoration of Circadian Cortisol Activity

Ragini C Bhake ^,,
Stafford L Lightman

Henry Wellcome Laboratories for Integrative Neurosciences and Endocrinology, Dorothy Hodgkin Building, University of Bristol, Bristol, UK

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.
- carney complex,
- cushing's,
- mifepristone,
- PRKAR1a,
- RU486
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

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Abstract

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.

References

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