ArticleJournal of clinical research in pediatric endocrinology2026
Exploring Multiple Endocrinological Issues and Dysautonomia in a Rare Case: Hypoparathyroidism in MIRAGE Syndrome
Article in Journal of clinical research in pediatric endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 1 citations in OpenAlex.
- Long-term survival in MIRAGE syndrome: Insights into systemic manifestations and management with review of literature.Endocrine journal · 2026Review
- Case Report: Unveiling the enigma: a rare male neonatal case of MIRAGE syndrome with female external genital presentation and literature review.Frontiers in pediatrics · 2026Article
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Authors and funding
8 authors at 2 institutions in 1 country.
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Abstract
MIRAGE syndrome is a rare multisystemic disorder characterized by the following manifestations: myelodysplasia, susceptibility to infections, growth retardation, adrenal hypoplasia, genital anomalies, and enteropathy. Dysautonomia has also been reported, but rarely. We present a 6.5-year-old girl, who was first admitted with short stature. On follow-up, she exhibited multiple endocrinological issues, including transient hypothyroidism, primary hypoparathyroidism and dysautonomia, along with multisystem involvement. Further investigations revealed recurrent moniliasis, low IgM levels, and transient monosomy 7 in the bone marrow. Whole exome sequencing revealed a heterozygous pathogenic variant of SAMD9 (c.2159del; p.Asn720ThrfsTer35). Additional complications observed during follow-up included medullary nephrocalcinosis, hypomagnesemia, hypomagnesuria, hypophosphatemia, decreased glomerular filtration rate, and nephrotic proteinuria. The patient also developed hyperglycemia, which was managed with low-dose insulin. This case highlights the diagnostic challenges and the diverse phenotypic presentation that may occur in MIRAGE syndrome.
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