Plain Language Summary

Complex glycerol kinase deficiency (CGKD), also known as Xp21 contiguous gene deletion syndrome, is a rare X-linked recessive disorder resulting from partial deletion of the Xp21.3 chromosomal region. CGKD encompasses several loci, including glycerol kinase (GK), Duchenne muscular dystrophy (DMD), X-linked adrenal hypoplasia congenita (NR0B1), and intellectual developmental disorder (IL1RAPL1). We present the cases of two male siblings diagnosed with CGKD. The elder sibling was initially suspected of having congenital adrenal hypoplasia (CAH). Whole exome sequencing (WES) revealed an interstitial deletion of 6.6 Mb on Xp21.3p21.1, encompassing critical genes including GK, DMD, NR0B1, and IL1RAPL1. The younger sibling was diagnosed shortly after birth based on family history, clinical and biochemical findings. The presented report highlights the diagnostic challenges associated with CGKD and the important role of genetic testing in confirming the diagnosis. A multidisciplinary team approach is necessary.

Diagnosing Complex Glycerol Kinase Deficiency: A Case Study of Two Brothers

Complex Glycerol Kinase Deficiency (CGKD) is a rare, inherited condition caused by the deletion of a group of genes on the X chromosome, affecting various systems in the body, such as muscles, hormone regulation, and development. Diagnosing CGKD is challenging due to its diverse and complex symptoms, as illustrated in this case of two brothers. The older sibling showed early signs of adrenal insufficiency, including poor feeding, vomiting, and abnormal skin pigmentation, and was initially misdiagnosed with a more common adrenal condition. Genetic testing later confirmed CGKD through the identification of a specific X chromosome deletion. This delayed diagnosis emphasizes the need to consider rare genetic disorders when symptoms are atypical. The younger brother was diagnosed at birth through family history, clinical evaluations, and genetic testing, enabling early management with hormone replacement therapy and dietary adjustments. Both children are now supported by a multidisciplinary team, addressing their medical, developmental, and nutritional needs, which has improved their health and quality of life. This case highlights the importance of genetic testing in diagnosing CGKD, especially in cases of unexplained developmental delay and adrenal insufficiency, as early detection allows for better management and family support.

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Genetic and Clinical Characterization of Complex Glycerol Kinase Deficiency in Two Male Siblings: A Case Report