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 language | English (US) |
|---|---|
| Pages (from-to) | 799-803 |
| Number of pages | 5 |
| Journal | Journal of Pediatric Endocrinology and Metabolism |
| Volume | 21 |
| Issue number | 8 |
| State | Published - 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.