Growth hormone insensitivity resulting from post-GH receptor defects

Ronald (Ron) Rosenfeld, Eric Kofoed, Brian Little, Kathryn (Katie) Woods, Caroline Buckway, Katherine Pratt, Vivian Hwa

Research output: Contribution to journalArticle

9 Citations (Scopus)

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 languageEnglish (US)
JournalGrowth Hormone and IGF Research
Volume14
Issue numberSUPPL. A
StatePublished - Jun 2004

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Laron Syndrome
Growth Hormone
Hematopoietic Cell Growth Factors
Somatotropin Receptors
Mutation
Interferons
Immune System
Phenotype

Keywords

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

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Cite this

Rosenfeld, R. R., Kofoed, E., Little, B., Woods, K. K., Buckway, C., Pratt, K., & Hwa, V. (2004). Growth hormone insensitivity resulting from post-GH receptor defects. Growth Hormone and IGF Research, 14(SUPPL. A).

Growth hormone insensitivity resulting from post-GH receptor defects. / Rosenfeld, Ronald (Ron); Kofoed, Eric; Little, Brian; Woods, Kathryn (Katie); Buckway, Caroline; Pratt, Katherine; Hwa, Vivian.

In: Growth Hormone and IGF Research, Vol. 14, No. SUPPL. A, 06.2004.

Research output: Contribution to journalArticle

Rosenfeld, RR, Kofoed, E, Little, B, Woods, KK, Buckway, C, Pratt, K & Hwa, V 2004, 'Growth hormone insensitivity resulting from post-GH receptor defects', Growth Hormone and IGF Research, vol. 14, no. SUPPL. A.
Rosenfeld RR, Kofoed E, Little B, Woods KK, Buckway C, Pratt K et al. Growth hormone insensitivity resulting from post-GH receptor defects. Growth Hormone and IGF Research. 2004 Jun;14(SUPPL. A).
Rosenfeld, Ronald (Ron) ; Kofoed, Eric ; Little, Brian ; Woods, Kathryn (Katie) ; Buckway, Caroline ; Pratt, Katherine ; Hwa, Vivian. / Growth hormone insensitivity resulting from post-GH receptor defects. In: Growth Hormone and IGF Research. 2004 ; Vol. 14, No. SUPPL. A.
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