Growth hormone insensitivity: Mexican case report.

Area of Science:

• Pediatric Endocrinology
• Genetics
• Metabolic Disorders

Background:

• Short stature is a common pediatric concern.
• Growth hormone (GH) therapy is a standard treatment for many causes of short stature.
• Failure to respond to GH necessitates further investigation into the GH/IGF-1 axis.

Purpose of the Study:

• To present a case of Laron Syndrome diagnosed due to non-response to GH therapy.
• To highlight the importance of evaluating the GH/IGF-1 axis in non-responsive short stature.
• To discuss the implications of Laron Syndrome diagnosis and treatment.

Main Methods:

• Clinical evaluation of a 14-year-old patient with short stature.
• Biochemical testing including GH and insulin-like growth factor-1 (IGF-1) levels.
• Molecular genetic testing for mutations in IGF1R and IGFALS genes.

Main Results:

• The patient exhibited short stature, normal GH levels, and low IGF-1 levels.
• Molecular diagnosis revealed mutations in IGF1R and IGFALS, confirming Laron Syndrome (GH insensitivity).
• The patient was initiated on IGF-1 substitutive therapy.

Conclusions:

• Evaluation of the GH/IGF-1 axis is essential for short stature cases unresponsive to standard treatment.
• The true incidence of Laron Syndrome requires further study, and affordable treatment options are needed.
• IGF-1 therapy is beneficial for Laron Syndrome patients, even in adulthood, for metabolic and protective reasons.