Case Report: Growth hormone deficiency and response to treatment in MIRAGE syndrome: expanding the endocrine phenotype

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MIRAGE syndrome is a rare autosomal dominant disorder caused by mutations in the SAMD9 gene, leading to significant growth restriction.
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Growth hormone deficiency (GHD) can occur in MIRAGE syndrome, complicating the management of growth failure in affected individuals.
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The case of an 11-year-old male with MIRAGE syndrome showed significant improvement in growth velocity after starting recombinant human growth hormone therapy.
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The patient's growth hormone therapy was initiated after careful risk assessment, including a brain MRI and hematological evaluation.
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This case highlights the need for systematic GH stimulation testing in MIRAGE patients with severe growth failure and proven GHD.

Frontiers In Endocrinology

by Laura Trapani, Marta Cognigni, Natalia Maximova, Erica Valencic, Alice Fachin, Gianluca Tamaro, Alberto Tommasini, Gianluca Tornese
July 7, 2026

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