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Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.

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Title: Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.
Authors: Trivisano, Marina, Lucchi, Chiara, Rustichelli, Cecilia, Terracciano, Alessandra, Cusmai, Raffaella, Ubertini, Grazia Maria, Giannone, Germana, Bertini, Enrico Silvio, Vigevano, Federico, Gecz, Jozef, Biagini, Giuseppe, Specchio, Nicola
Source: Epilepsia (Series 4). Jun2017, Vol. 58 Issue 6, pe91-e95. 5p.
Subjects: Adrenocorticotropic hormone, Pregnanolone, Hydrocortisone, Epilepsy, Diseases in women
Abstract: Patients affected by protocadherin 19 ( PCDH19)-female limited epilepsy ( PCDH19- FE) present a remarkable reduction in allopregnanolone blood levels. However, no information is available on other neuroactive steroids and the steroidogenic response to hormonal stimulation. For this reason, we evaluated allopregnanolone, pregnanolone, and pregnenolone sulfate by liquid chromatographic procedures coupled with electrospray tandem mass spectrometry in 12 unrelated patients and 15 age-matched controls. We also tested cortisol, estradiol, progesterone, and 17 OH-progesterone using standard immunoassays. Apart from estradiol and progesterone, all the considered hormones were evaluated in basal condition and after stimulation with adrenocorticotropic hormone ( ACTH). A generalized decrease in blood levels of almost all measured neuroactive steroids was found. When considering sexual development, cortisol and pregnenolone sulfate basal levels were significantly reduced in postpubertal girls affected by PCDH19- FE. Of interest, ACTH administration did not recover pregnenolone sulfate serum levels but restored cortisol to control levels. In prepubertal girls with PCDH19- FE, by challenging adrenal function with ACTH we disclosed defects in the production of cortisol, pregnenolone sulfate, and 17 OH-progesterone, which were not apparent in basal condition. These findings point to multiple defects in peripheral steroidogenesis associated with and potentially relevant to PCDH19- FE. Some of these defects could be addressed by stimulating adrenocortical activity. [ABSTRACT FROM AUTHOR]
Copyright of Epilepsia (Series 4) is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.
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  Data: <searchLink fieldCode="AR" term="%22Trivisano%2C+Marina%22">Trivisano, Marina</searchLink><br /><searchLink fieldCode="AR" term="%22Lucchi%2C+Chiara%22">Lucchi, Chiara</searchLink><br /><searchLink fieldCode="AR" term="%22Rustichelli%2C+Cecilia%22">Rustichelli, Cecilia</searchLink><br /><searchLink fieldCode="AR" term="%22Terracciano%2C+Alessandra%22">Terracciano, Alessandra</searchLink><br /><searchLink fieldCode="AR" term="%22Cusmai%2C+Raffaella%22">Cusmai, Raffaella</searchLink><br /><searchLink fieldCode="AR" term="%22Ubertini%2C+Grazia+Maria%22">Ubertini, Grazia Maria</searchLink><br /><searchLink fieldCode="AR" term="%22Giannone%2C+Germana%22">Giannone, Germana</searchLink><br /><searchLink fieldCode="AR" term="%22Bertini%2C+Enrico+Silvio%22">Bertini, Enrico Silvio</searchLink><br /><searchLink fieldCode="AR" term="%22Vigevano%2C+Federico%22">Vigevano, Federico</searchLink><br /><searchLink fieldCode="AR" term="%22Gecz%2C+Jozef%22">Gecz, Jozef</searchLink><br /><searchLink fieldCode="AR" term="%22Biagini%2C+Giuseppe%22">Biagini, Giuseppe</searchLink><br /><searchLink fieldCode="AR" term="%22Specchio%2C+Nicola%22">Specchio, Nicola</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22Epilepsia+%28Series+4%29%22">Epilepsia (Series 4)</searchLink>. Jun2017, Vol. 58 Issue 6, pe91-e95. 5p.
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  Data: <searchLink fieldCode="DE" term="%22Adrenocorticotropic+hormone%22">Adrenocorticotropic hormone</searchLink><br /><searchLink fieldCode="DE" term="%22Pregnanolone%22">Pregnanolone</searchLink><br /><searchLink fieldCode="DE" term="%22Hydrocortisone%22">Hydrocortisone</searchLink><br /><searchLink fieldCode="DE" term="%22Epilepsy%22">Epilepsy</searchLink><br /><searchLink fieldCode="DE" term="%22Diseases+in+women%22">Diseases in women</searchLink>
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  Data: Patients affected by protocadherin 19 ( PCDH19)-female limited epilepsy ( PCDH19- FE) present a remarkable reduction in allopregnanolone blood levels. However, no information is available on other neuroactive steroids and the steroidogenic response to hormonal stimulation. For this reason, we evaluated allopregnanolone, pregnanolone, and pregnenolone sulfate by liquid chromatographic procedures coupled with electrospray tandem mass spectrometry in 12 unrelated patients and 15 age-matched controls. We also tested cortisol, estradiol, progesterone, and 17 OH-progesterone using standard immunoassays. Apart from estradiol and progesterone, all the considered hormones were evaluated in basal condition and after stimulation with adrenocorticotropic hormone ( ACTH). A generalized decrease in blood levels of almost all measured neuroactive steroids was found. When considering sexual development, cortisol and pregnenolone sulfate basal levels were significantly reduced in postpubertal girls affected by PCDH19- FE. Of interest, ACTH administration did not recover pregnenolone sulfate serum levels but restored cortisol to control levels. In prepubertal girls with PCDH19- FE, by challenging adrenal function with ACTH we disclosed defects in the production of cortisol, pregnenolone sulfate, and 17 OH-progesterone, which were not apparent in basal condition. These findings point to multiple defects in peripheral steroidogenesis associated with and potentially relevant to PCDH19- FE. Some of these defects could be addressed by stimulating adrenocortical activity. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
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  Group: Ab
  Data: <i>Copyright of Epilepsia (Series 4) is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1111/epi.13772
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        Text: English
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        PageCount: 5
        StartPage: e91
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        Type: general
      – SubjectFull: Pregnanolone
        Type: general
      – SubjectFull: Hydrocortisone
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      – SubjectFull: Epilepsy
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      – SubjectFull: Diseases in women
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      – TitleFull: Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.
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              Text: Jun2017
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