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 |
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Keywords
- Adrenal insufficiency
- Isolated ACTH deficiency
- TPIT gene
ASJC Scopus subject areas
- Endocrinology
- Endocrinology, Diabetes and Metabolism
- Pediatrics, Perinatology, and Child Health
Cite this
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 journal › Article
}
TY - JOUR
T1 - Isolated adrenocorticotropic hormone deficiency presenting as an acute neurologic emergency in a peripubertal girl
AU - Bremer, Andrew A.
AU - Ranadive, Sayali
AU - Conrad, Susan C.
AU - Vallette-Kasic, Sophie
AU - Rosenthal, Stephen M.
PY - 2008/8
Y1 - 2008/8
N2 - 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.
AB - 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.
KW - Adrenal insufficiency
KW - Isolated ACTH deficiency
KW - TPIT gene
UR - http://www.scopus.com/inward/record.url?scp=52649146416&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=52649146416&partnerID=8YFLogxK
M3 - Article
C2 - 18825881
AN - SCOPUS:52649146416
VL - 21
SP - 799
EP - 803
JO - Journal of Pediatric Endocrinology and Metabolism
JF - Journal of Pediatric Endocrinology and Metabolism
SN - 0334-018X
IS - 8
ER -