[STAT5B deficiency: a new growth hormone insensitivity syndrome associated to immunological dysfunction]

Arq Bras Endocrinol Metabol. 2013 Jul;57(5):333-8. doi: 10.1590/s0004-27302013000500001.
[Article in Portuguese]

Abstract

A new presentation of growth hormone insensitivity (GHI) caused by homozygous mutations in STAT5B (signal transducer and activator of transcription 5B) gene has been characterized in the last years. Its particularity is the association with severe immune dysfunction, especially with lymphocytic interstitial pneumonitis. This may mislead physicians into considering short stature as secondary to chronic immunological disease and consequently into underdiagnosing this form of GHI. The objective of this review is to propagate current knowledge about this rare pathology, facilitating the diagnosis of patients with GHI due to STAT5B mutations in endocrinology and other specialties clinics.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Human Growth Hormone / genetics*
  • Humans
  • Immune System Diseases / genetics*
  • Immune System Diseases / immunology
  • Interleukins / metabolism
  • Laron Syndrome / genetics*
  • Laron Syndrome / therapy
  • Mutation*
  • Rare Diseases / genetics*
  • Rare Diseases / immunology
  • STAT5 Transcription Factor / deficiency*
  • STAT5 Transcription Factor / genetics
  • STAT5 Transcription Factor / immunology
  • Signal Transduction

Substances

  • Interleukins
  • STAT5 Transcription Factor
  • Human Growth Hormone