Linked Life Data

18825881

Source:http://linkedlifedata.com/resource/pubmed/id/18825881

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2008-10-1
pubmed:abstractText
Isolated 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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0334-018X
pubmed:author
pubmed:issnType
Print
pubmed:volume
21
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
799-803
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Isolated adrenocorticotropic hormone deficiency presenting as an acute neurologic emergency in a peripubertal girl.
pubmed:affiliation
Department of Pediatrics, Division of Endocrinology, University of California Davis Medical Center, Sacramento, CA 95817-2208, USA. andrew.bremer@ucdmc.ucdavis.edu
pubmed:publicationType
Journal Article, Case Reports