{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T17:43:39Z","timestamp":1778607819342,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,5,4]],"date-time":"2017-05-04T00:00:00Z","timestamp":1493856000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["RF\u20102011\u201002350485"],"award-info":[{"award-number":["RF\u20102011\u201002350485"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007386","name":"Fondazione Cassa di Risparmio di Modena","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007386","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Patients affected by protocadherin 19 (<jats:styled-content style=\"fixed-case\">PCDH<\/jats:styled-content>19)\u2013female limited epilepsy (<jats:styled-content style=\"fixed-case\">PCDH<\/jats:styled-content>19\u2010<jats:styled-content style=\"fixed-case\">FE<\/jats:styled-content>) 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\u2010matched controls. We also tested cortisol, estradiol, progesterone, and 17<jats:styled-content style=\"fixed-case\">OH<\/jats:styled-content>\u2010progesterone using standard immunoassays. Apart from estradiol and progesterone, all the considered hormones were evaluated in basal condition and after stimulation with adrenocorticotropic hormone (<jats:styled-content style=\"fixed-case\">ACTH<\/jats:styled-content>). 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 <jats:styled-content style=\"fixed-case\">PCDH<\/jats:styled-content>19\u2010<jats:styled-content style=\"fixed-case\">FE<\/jats:styled-content>. Of interest, <jats:styled-content style=\"fixed-case\">ACTH<\/jats:styled-content> administration did not recover pregnenolone sulfate serum levels but restored cortisol to control levels. In prepubertal girls with <jats:styled-content style=\"fixed-case\">PCDH<\/jats:styled-content>19\u2010<jats:styled-content style=\"fixed-case\">FE<\/jats:styled-content>, by challenging adrenal function with <jats:styled-content style=\"fixed-case\">ACTH<\/jats:styled-content> we disclosed defects in the production of cortisol, pregnenolone sulfate, and 17<jats:styled-content style=\"fixed-case\">OH<\/jats:styled-content>\u2010progesterone, which were not apparent in basal condition. These findings point to multiple defects in peripheral steroidogenesis associated with and potentially relevant to <jats:styled-content style=\"fixed-case\">PCDH<\/jats:styled-content>19\u2010<jats:styled-content style=\"fixed-case\">FE<\/jats:styled-content>. Some of these defects could be addressed by stimulating adrenocortical activity.<\/jats:p>","DOI":"10.1111\/epi.13772","type":"journal-article","created":{"date-parts":[[2017,5,4]],"date-time":"2017-05-04T12:36:45Z","timestamp":1493901405000},"source":"Crossref","is-referenced-by-count":42,"title":["Reduced steroidogenesis in patients with <scp>PCDH<\/scp>19\u2010female limited epilepsy"],"prefix":"10.1111","volume":"58","author":[{"given":"Marina","family":"Trivisano","sequence":"first","affiliation":[{"name":"Neurology Unit Department of Neuroscience Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"},{"name":"Clinic of Nervous System Diseases University of Foggia Foggia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Lucchi","sequence":"additional","affiliation":[{"name":"Department of Biomedical, Metabolic and Neural Sciences University of Modena and Reggio Emilia Modena Italy"},{"name":"Department of Neurosciences NOCSAE Hospital AUSL Modena Modena Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecilia","family":"Rustichelli","sequence":"additional","affiliation":[{"name":"Department of Life Sciences University of Modena and Reggio Emilia Modena Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Terracciano","sequence":"additional","affiliation":[{"name":"Unit of Molecular Medicine Department of Neuroscience Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffaella","family":"Cusmai","sequence":"additional","affiliation":[{"name":"Neurology Unit Department of Neuroscience Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grazia Maria","family":"Ubertini","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology and Diabetes Department of Pediatrics Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Germana","family":"Giannone","sequence":"additional","affiliation":[{"name":"Department of Chemistry Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico Silvio","family":"Bertini","sequence":"additional","affiliation":[{"name":"Unit of Molecular Medicine Department of Neuroscience Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federico","family":"Vigevano","sequence":"additional","affiliation":[{"name":"Neurology Unit Department of Neuroscience Bambino Ges\u00f9 Children's Hospital IRCCS Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jozef","family":"Gecz","sequence":"additional","affiliation":[{"name":"School of Medicine and the Robinson Research Institute The University of Adelaide Adelaide South Australia Australia"},{"name":"South Australian Health and Medical Research Institute Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Biagini","sequence":"additional","affiliation":[{"name":"Department of Biomedical, Metabolic and Neural Sciences University of Modena and Reggio Emilia Modena Italy"},{"name":"Department of Neurosciences NOCSAE Hospital AUSL Modena Modena Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola","family":"Specchio","sequence":"additional","affiliation":[{"name":"Neurology Unit Department of Neuroscience Bambino Ges\u00f9 Children's Hospital IRCCS Rome 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