Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders in humans. The most frequent CAH variant is 21-hydroxylase deficiency. Patients with 21-hydroxylase deficiency require long-term glucocorticoid replacement treatment. Although sleep disturbance is frequently observed under glucocorticoid replacement treatment, a case of obstructive sleep apnea(OSA) in patients with CAH has not been reported.
Case report: A 43-year-old man with CAH who complained about sleep disturbance and sleep bruxism was diagnosed as obstructive sleep apnea (OSA) by polysomnography (PSG). Following the introduction of nasal continuous positive airway pressure (nCPAP), his sleep disturbance with symptoms also improved; in addition, he was able to reduce the dose of glucocorticoid replacement therapy without any adverse consequences on his sleep pattern.
Conclusions: Physicians who treat a patient with CAH should know the possibility in the existence of OSA in their patients. Because symptoms with OSA in CAH patient may increase the dosage of long-term glucocorticoid treatment for the patient, which may induce several adverse effects including body weight gain on the patient.