Exploring Multiple Endocrinological Issues and Dysautonomia in a Rare Case: Hypoparathyroidism in MIRAGE Syndrome

What is already known about this topic?• MIRAGE syndrome is a rare multisystemic disorder It is characterized by various manifestations, including myelodysplasia, susceptibility to infections, growth retardation, adrenal hypoplasia, genital anomalies, and enteropathy. •The syndrome is associated with pathogenic variants in the SAMD9.This case report involves a 3.5-year-old girl with a specific SAMD9 variant (c.2159del; p.Asn720ThrfsTer35). What this study adds to the literature? •The case report highlights the presence of primary hypoparathyroidism and diabetes mellitus in a patient with MIRAGE syndrome, which expands the spectrum of associated endocrinological issues. •Dysautonomia is a relatively rare finding in MIRAGE syndrome and underscores the heterogeneity of clinical presentations within this disorder. •This case report emphasizes the diagnostic challenges associated with MIRAGE syndrome, as its diverse phenotypic presentation can make it difficult to recognize and diagnose the condition accurately.