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Endocrine, Metabolic & Immune Disorders - Drug Targets

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Case Report

A 3-Year-Old Boy with an Xp21 Deletion Syndrome: A Case Report

Author(s): Shaghayegh Sadeghmousavi, Sepideh Shahkarami, Elham Rayzan, Souran Ahmed, Farzaneh Hosseini Gharalari, Meino Rohlfs, Christoph Klein and Nima Rezaei*

Volume 22, Issue 8, 2022

Published on: 26 April, 2022

Page: [881 - 887] Pages: 7

DOI: 10.2174/1871530322666220201143656

Price: $65

Abstract

Background: Chromosome Xp21 deletion syndrome is a rare X-linked recessive defect that occurs as a result of multiple gene deletions, including Glycerol kinase (GK) and its neighboring genes, dystrophin, which causes Duchenne muscular dystrophy (DMD), and NR0B1, which causes congenital adrenal hypoplasia (CAHhttps://www.omim.org/entry/300200). Patients usually present with glycerol kinase deficiency, congenital adrenal hypoplasia, Duchenne muscular dystrophy, hyperglycerolemia, and glyceroluria, associated with DMD and/or CAH, growth failure, myopathy, osteoporosis, mental retardation, and psychomotor retardation.

Case Presentation: Herein, we report a 3-year- old boy from Iraq who had bloody diarrhea, food intolerance and abdominal cramp, adrenal insufficiency, recurrent fevers, tuberculosis (TB) infection, cervical abscess, oral thrush, cervical and mediastinal lymphadenopathies, developmental delay, and undescended testis. His parents are non-consanguine and had no family history of diseases. Next generation sequencing demonstrated a hemizygote deletion in chromosome X.

Conclusion: Loss of a large part of the X-chromosome most likely can explain the clinical findings of this patient. Contiguous gene deletion syndrome in Xp21 should be considered after diagnosing adrenal insufficiency to treat metabolic complications efficiently.

Keywords: Contiguous deletion syndromes, chromosome xp21 deletion syndrome, complex glycerol kinase deficiency, adrenal insufficiency, hypoaldosteronism, next generation sequencing.

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Graphical Abstract

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