Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Growth hormone insensitivity

A L Rosenbloom1, R G Rosenfeld, J Guevara-Aguirre

  • 1Department of Pediatrics, University of Florida College of Medicine, Gainesville, USA.

Pediatric Clinics of North America
|April 1, 1997
PubMed
Summary

Growth hormone insensitivity (GHI) is often caused by GH receptor defects. A large Ecuadorian cohort with a specific mutation offers insights into GHI, its features, and recombinant IGF-I treatment effects.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

The impact of Converso Jews on the genomes of modern Latin Americans.

Human genetics·2011
Same author

Lessons from the genetics of laron syndrome.

Trends in endocrinology and metabolism: TEM·2008
Same author

IGF-I treatment of diabetes.

Pediatric diabetes·2004
Same author

The GH-IGF-I axis and diabetes complications.

Pediatric diabetes·2004
Same author

Fetal growth, adrenocortical function and the risk for type 2 diabetes.

Pediatric diabetes·2004
Same author

Racial variation in factors related to obesity and insulin sensitivity in children and youth.

Pediatric diabetes·2004

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatric Growth Disorders

Background:

  • Growth hormone insensitivity (GHI) presents as primary (GH receptor defects) or secondary (illnesses, malnutrition).
  • GH receptor deficiency, though rare (229 cases), is the most common cause of primary GHI.
  • A significant cohort of Ecuadorian patients with Jewish ancestry represents one-third of known GHI cases.

Purpose of the Study:

  • To investigate the clinical, growth, and biochemical features of GHI in a large Ecuadorian cohort.
  • To analyze the effects of recombinant insulin-like growth factor-I (IGF-I) treatment in these patients.
  • To identify genetic mutations associated with GHI, particularly in the GH receptor gene.

Main Methods:

  • Clinical evaluation and biochemical assessments of patients with GHI.
  • Genetic analysis to identify mutations in the GH receptor gene.
  • Monitoring growth parameters and treatment response to recombinant IGF-I.

Main Results:

  • The Ecuadorian cohort exhibits specific clinical and growth characteristics related to GHI.
  • Recombinant IGF-I treatment demonstrated effects on growth and biochemical markers.
  • A shared splice site mutation in the GH receptor gene was identified in Ecuadorian patients and an Israeli patient.

Conclusions:

  • GH receptor gene mutations are a key cause of primary GHI.
  • The Ecuadorian cohort provides valuable data on GHI pathophysiology and treatment.
  • Further research into GHI genetics and therapeutic interventions is warranted.

Related Experiment Videos