A 42-Year-Old Woman with Untreated Growth Hormone Insensitivity, Diabetic Retinopathy, and Gene Sequencing Identifies a Variant of Laron Syndrome

Am J Case Rep. 2019 May 14:20:689-696. doi: 10.12659/AJCR.913178.

Abstract

BACKGROUND Growth hormone insensitivity and reduced levels of insulin-like growth factor-1 (IGF-1) are associated with metabolic syndrome that includes obesity, hyperglycemia, type 2 diabetes mellitus, and dyslipidemia. Laron syndrome is a rare autosomal recessive condition associated with insensitivity to growth hormone that results in short stature and metabolic syndrome and is usually diagnosed in childhood. This report is of a 42-year-old Mexican woman with untreated growth hormone insensitivity and diabetic retinopathy, in whom gene sequencing supported the identification of a variant of Laron syndrome. CASE REPORT A 42-year-old Mexican woman with untreated growth hormone insensitivity, metabolic syndrome, and type 2 diabetes mellitus was diagnosed with cataracts, severe retinopathy and hearing loss. She was investigated for genetic causes of reduction in IGF-1. Next-generation sequencing (NGS) showed genetic changes in the growth hormone and IGF-1 axis. The patient's phenotype and genetic changes were consistent with Laron syndrome. CONCLUSIONS The early detection of reduced IGF-1 and identification of the cause of growth hormone insensitivity require international consensus on the approach to diagnosis and treatment methods, including effective IGF-1 replacement therapy. Early diagnosis may reduce the clinical consequences of complications that include short stature the development of metabolic syndrome, type 2 diabetes mellitus, and retinopathy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Diabetic Retinopathy / diagnosis
  • Diabetic Retinopathy / etiology*
  • Drug Hypersensitivity / diagnosis
  • Drug Hypersensitivity / etiology*
  • Female
  • Growth Hormone / adverse effects*
  • Humans
  • Insulin-Like Growth Factor I / metabolism*
  • Laron Syndrome / complications
  • Laron Syndrome / diagnosis*

Substances

  • Insulin-Like Growth Factor I
  • Growth Hormone