Case report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome

Autor: Anna Go, Beom Hee Lee, Jin-Ho Choi, Jiyoon Jeong, Euiseok Jung, Byong Sop Lee
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Frontiers in Endocrinology, Vol 14 (2023)
Druh dokumentu: article
ISSN: 1664-2392
DOI: 10.3389/fendo.2023.1242387
Popis: IntroductionMIRAGE syndrome is a rare disease characterized by myelodysplasia, infection, growth restriction, adrenal hypoplasia, genital phenotypes, and enteropathy. Herein, we report the case of a girl with MIRAGE syndrome who presented with adrenal insufficiency and chronic diarrhea.Case presentationThe patient was born at 29 + 6 weeks of gestational age with a birth weight of 656 g (
Databáze: Directory of Open Access Journals