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

Abstract excerpt

Background: MIRAGE syndrome, a rare autosomal dominant disorder, is caused by heterozygous gain-of-function mutations in the SAMD9 gene. A key characteristic of MIRAGE syndrome is growth restriction. Although initially thought to stem mainly from prenatal and systemic factors, this growth restriction can also be a consequence of panhypopituitarism, leading to growth hormone deficiency (GHD). The use of...

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