Growth hormone insensitivity resulting from post-GH receptor defects

Ron G. Rosenfeld; Eric Kofoed; Brian Little; Katie Woods; Caroline Buckway; Katherine Pratt; Vivian Hwa

doi:10.1016/j.ghir.2004.03.009

Growth hormone insensitivity resulting from post-GH receptor defects

Ron G. Rosenfeld, Eric Kofoed, Brian Little, Katie Woods, Caroline Buckway, Katherine Pratt, Vivian Hwa

Pediatrics

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

10 Scopus citations

Abstract

Biochemical analysis indicates that the STAT-5b mutation affects signaling by both growth hormone (GH) and γ-interferon. A patient with such a mutation thus manifests two new clinical disorders: (1) growth hormone insensitivity (GHI), which results from a post-receptor defect in GH signaling and (2) a new form of primary immunodeficiency. Given that the GH receptor is a member of the hematopoietin-receptor family, it seems reasonable to predict that additional cases of defects in GH signaling will be identified. The predicted phenotype would be GHI combined with defects in the immune system.

Original language	English (US)
Pages (from-to)	S35-S38
Journal	Growth Hormone and IGF Research
Volume	14
Issue number	SUPPL. A
DOIs	https://doi.org/10.1016/j.ghir.2004.03.009
State	Published - Jun 2004

Keywords

Growth hormone insensitivity (GHI)
Pediatric
Signal transducers and activators of transcription 5b (STAT-5b)

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Endocrinology

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10.1016/j.ghir.2004.03.009

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title = "Growth hormone insensitivity resulting from post-GH receptor defects",

abstract = "Biochemical analysis indicates that the STAT-5b mutation affects signaling by both growth hormone (GH) and γ-interferon. A patient with such a mutation thus manifests two new clinical disorders: (1) growth hormone insensitivity (GHI), which results from a post-receptor defect in GH signaling and (2) a new form of primary immunodeficiency. Given that the GH receptor is a member of the hematopoietin-receptor family, it seems reasonable to predict that additional cases of defects in GH signaling will be identified. The predicted phenotype would be GHI combined with defects in the immune system.",

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T1 - Growth hormone insensitivity resulting from post-GH receptor defects

AU - Rosenfeld, Ron G.

AU - Kofoed, Eric

AU - Little, Brian

AU - Woods, Katie

AU - Buckway, Caroline

AU - Pratt, Katherine

AU - Hwa, Vivian

PY - 2004/6

Y1 - 2004/6

N2 - Biochemical analysis indicates that the STAT-5b mutation affects signaling by both growth hormone (GH) and γ-interferon. A patient with such a mutation thus manifests two new clinical disorders: (1) growth hormone insensitivity (GHI), which results from a post-receptor defect in GH signaling and (2) a new form of primary immunodeficiency. Given that the GH receptor is a member of the hematopoietin-receptor family, it seems reasonable to predict that additional cases of defects in GH signaling will be identified. The predicted phenotype would be GHI combined with defects in the immune system.

AB - Biochemical analysis indicates that the STAT-5b mutation affects signaling by both growth hormone (GH) and γ-interferon. A patient with such a mutation thus manifests two new clinical disorders: (1) growth hormone insensitivity (GHI), which results from a post-receptor defect in GH signaling and (2) a new form of primary immunodeficiency. Given that the GH receptor is a member of the hematopoietin-receptor family, it seems reasonable to predict that additional cases of defects in GH signaling will be identified. The predicted phenotype would be GHI combined with defects in the immune system.

KW - Growth hormone insensitivity (GHI)

KW - Pediatric

KW - Signal transducers and activators of transcription 5b (STAT-5b)

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Growth hormone insensitivity resulting from post-GH receptor defects

Abstract

Keywords

ASJC Scopus subject areas

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