JCRPE Journal of Clinical Research in Pediatric Endocrinology 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.Exploring Multiple Endocrinological Issues and Dysautonomia in a Rare Case: Hypoparathyroidism in MIRAGE Syndrome
We present a 6.5-year-old girl, who was first admitted to our department 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, hypermagnesiuria, hypophosphate...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - March 26, 2024 Category: Endocrinology Authors: Sirmen K ızılcan Çetin Elif Özsu Zeynep Şıklar Hasan Fatih Çakmaklı Gizem Şenyazar Zehra Aycan Serdar Ceylaner Merih Berbero ğlu Source Type: research
