A rare etiology of 46,xy disorder of sex development and adrenal insufficiency: A case of mirage syndrome caused by mutations in the SAMD9 gene
JCRPE Journal of Clinical Research in Pediatric Endocrinology, cilt.12, sa.2, ss.206-211, 2020 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 12 Sayı: 2
- Basım Tarihi: 2020
- Doi Numarası: 10.4274/jcrpe.galenos.2019.2019.0053
- Dergi Adı: JCRPE Journal of Clinical Research in Pediatric Endocrinology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.206-211
- Anahtar Kelimeler: Adrenal hypoplasia, 46,XY disorder of sex development, MIRAGE syndrome
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Adrenal hypoplasia is a rare congenital disorder. In spite of biochemical and molecular genetic evaluation, etiology in many patients with adrenal hypoplasia is not clear. MIRAGE syndrome is a recently recognized congenital disorder characterized by myelodysplasia, infection, growth restriction, adrenal hypoplasia, genital phenotypes, and enteropathy. Here we present a case of MIRAGE syndrome due to a heterozygous missense variant (c.2920G>A; p.E974K) mutation in the sterile alpha motif domain-containing protein-9 (SAMD9) gene. This report describes the first MIRAGE syndrome patient in Turkey.