A case report of Xp21 contiguous gene deletion syndrome with adrenal crisis and sensorineural hearing loss: clinical highlights and management pitfalls.
Rungroj Thangpong, Samkhwan Thongsukkaeo, Kulpatra Paisansukanant et al.
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Case in brief
A male infant presented with a salt-wasting adrenal crisis indicative of X-linked adrenal hypoplasia congenita. Over time, he developed global developmental delay and sensorineural hearing loss, which is less commonly reported in this syndrome. At age five, he was diagnosed with Duchenne muscular dystrophy after showing progressive muscle weakness and elevated creatine phosphokinase levels. Genetic analysis confirmed Xp21 contiguous gene deletion syndrome, complicating his treatment.
What made this case unusual
The case uniquely highlights sensorineural hearing loss as a feature of Xp21 contiguous gene deletion syndrome, which has been under-reported in existing literature.
Diagnostic / clinical pearl
Clinicians should consider Xp21 contiguous gene deletion syndrome in patients presenting with adrenal crisis, particularly when accompanied by developmental delays and hearing loss.
Why it matters
This case underscores the importance of multidisciplinary management in complex pediatric endocrine disorders to address the challenges posed by overlapping conditions.