Isolated adrenocorticotropic hormone deficiency presenting as an acute neurologic emergency in a peripubertal girl

Andrew A. Bremer, Sayali Ranadive, Susan C. Conrad, Sophie Vallette-Kasic, Stephen M. Rosenthal

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)799-803
Number of pages5
JournalJournal of Pediatric Endocrinology and Metabolism
Volume21
Issue number8
StatePublished - Aug 2008

Keywords

  • Adrenal insufficiency
  • Isolated ACTH deficiency
  • TPIT gene

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Isolated adrenocorticotropic hormone deficiency presenting as an acute neurologic emergency in a peripubertal girl'. Together they form a unique fingerprint.

  • Cite this

    Bremer, A. A., Ranadive, S., Conrad, S. C., Vallette-Kasic, S., & Rosenthal, S. M. (2008). Isolated adrenocorticotropic hormone deficiency presenting as an acute neurologic emergency in a peripubertal girl. Journal of Pediatric Endocrinology and Metabolism, 21(8), 799-803.