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 Citations (Scopus)

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

Fingerprint

Nervous System
Emergencies
Adrenal Insufficiency
Genes
Transcription Factors
Mutation
Adrenocorticotropic hormone deficiency

Keywords

  • Adrenal insufficiency
  • Isolated ACTH deficiency
  • TPIT gene

ASJC Scopus subject areas

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

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.

Isolated adrenocorticotropic hormone deficiency presenting as an acute neurologic emergency in a peripubertal girl. / Bremer, Andrew A.; Ranadive, Sayali; Conrad, Susan C.; Vallette-Kasic, Sophie; Rosenthal, Stephen M.

In: Journal of Pediatric Endocrinology and Metabolism, Vol. 21, No. 8, 08.2008, p. 799-803.

Research output: Contribution to journalArticle

Bremer, AA, Ranadive, S, Conrad, SC, Vallette-Kasic, S & Rosenthal, SM 2008, 'Isolated adrenocorticotropic hormone deficiency presenting as an acute neurologic emergency in a peripubertal girl', Journal of Pediatric Endocrinology and Metabolism, vol. 21, no. 8, pp. 799-803.
Bremer, Andrew A. ; Ranadive, Sayali ; Conrad, Susan C. ; Vallette-Kasic, Sophie ; Rosenthal, Stephen M. / Isolated adrenocorticotropic hormone deficiency presenting as an acute neurologic emergency in a peripubertal girl. In: Journal of Pediatric Endocrinology and Metabolism. 2008 ; Vol. 21, No. 8. pp. 799-803.
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