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

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 Training Program Scholars

Research output: Contribution to journal › Article › peer-review

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 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

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 › peer-review

@article{bafe8af05c764244a58aec30b39b27be,

title = "Isolated adrenocorticotropic hormone deficiency presenting as an acute neurologic emergency in a peripubertal girl",

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.",

keywords = "Adrenal insufficiency, Isolated ACTH deficiency, TPIT gene",

author = "Bremer, {Andrew A.} and Sayali Ranadive and Conrad, {Susan C.} and Sophie Vallette-Kasic and Rosenthal, {Stephen M.}",

year = "2008",

month = aug,

language = "English (US)",

volume = "21",

pages = "799--803",

journal = "Journal of Pediatric Endocrinology and Metabolism",

issn = "0334-018X",

publisher = "Walter de Gruyter GmbH & Co. KG",

number = "8",

}

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 -