A 42-Year-Old Woman with Untreated Growth Hormone Insensitivity, Diabetic Retinopathy, and Gene Sequencing Identifies a Variant of Laron Syndrome
Challenging differential diagnosis, Management of emergency care, Patient complains / malpractice, Educational Purpose (only if useful for a systematic review or synthesis), Rare co-existance of disease or pathology
Inma Castilla-Cortazar, Julieta R. De Ita, Mariano García-Magariño, Gabriel A. Aguirre, Fabiola Castorena-Torres, Jorge E. Valdez-Garcia, Jesús Ortiz-Urbina, Rocío García de la Garza, Elizabeth Fraustro-Avila, Miguel A. Rodríguez-Zambrano, Martha I. Elizondo
Basic Investigation, Medicine and Health Sciences School, Tecnologico de Monterrey, Monterrey, Mexico
Am J Case Rep 2019; 20:689-696
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.
Keywords: Diabetic Retinopathy, Insulin-Like Growth Factor I, Laron Syndrome, Metabolic Syndrome X