Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic Disorder

Abstract

Xp21 contiguous gene deletion syndrome is an uncommon genetic condition associated with complex glycerol kinase deficiency (GK), congenital adrenal hypoplasia (NR0B1), Duchenne muscular dystrophy (DMD), and, in some cases, intellectual disability. Clinical findings vary based on the size of the deletion and the number of affected genes. To date, over 100 male patients with this syndrome have been reported, while the number of symptomatic female carriers is quite limited. In this article, we present the diagnosis and treatment process of a case exhibiting dysmorphic facial features, signs of adrenal insufficiency, pseudo-hypertriglyceridemia, and elevated creatine phosphokinase levels. The patient’s serum 17-hydroxyprogesterone levels were normal, and the adrenal glands were not observable via magnetic resonance imaging. An Xp21.2 deletion (DMD, NR0B1, GK, IL1RAPL1) was identified in the case. Treatment with hydrocortisone, fludrocortisone, and oral salt was arranged. This case highlights the rare yet significant clinical and genetic diversity of Xp21 contiguous gene deletion syndrome.

Keywords: Complex glycerol kinase deficiency; Duchenne muscular dystrophy; congenital adrenal hypoplasia; glycerol kinase deficiency; pseudo-hypertriglyceridemia.