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pubmed-article:18825881pubmed:abstractTextIsolated adrenocorticotropic hormone (ACTH) deficiency (IAD) is extraordinarily rare, and the clinical manifestations of its accompanying adrenal insufficiency are diverse. Early-onset forms of IAD have been linked to mutations in the Tpit transcription factor gene TPIT; however, the genetic basis of juvenile- or late-onset IAD is unknown. Herein, we describe a case of a peripubertal girl with IAD and a normal TPIT gene who presented with an acute neurologic emergency, demonstrating both the variable clinical presentation of IAD and the need for continued investigation into the molecular mechanisms underlying juvenile- and late-onset IAD.lld:pubmed
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pubmed-article:18825881pubmed:year2008lld:pubmed
pubmed-article:18825881pubmed:articleTitleIsolated adrenocorticotropic hormone deficiency presenting as an acute neurologic emergency in a peripubertal girl.lld:pubmed
pubmed-article:18825881pubmed:affiliationDepartment of Pediatrics, Division of Endocrinology, University of California Davis Medical Center, Sacramento, CA 95817-2208, USA. andrew.bremer@ucdmc.ucdavis.edulld:pubmed
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