14 May 2019 : Case report
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 coexistence of disease or pathologyInma Castilla-Cortazar12ACDEG, Julieta R. De Ita1B, Mariano García-Magariño1BC, Gabriel A. Aguirre3CD, Fabiola Castorena-Torres1CDE, Jorge E. Valdez-Garcia1B, Jesús Ortiz-Urbina1EF, Rocío García de la Garza1F, Elizabeth Fraustro-Avila4B, Miguel A. Rodríguez-Zambrano2FG, Martha I. Elizondo1D
Am J Case Rep 2019; 20:689-696
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.
Keywords: Diabetic Retinopathy, Insulin-Like Growth Factor I, Laron Syndrome, Metabolic Syndrome X, Adult, Drug Hypersensitivity, Growth Hormone
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