To present a case study of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, highlighting the transient enlargement of adrenal glands following an acute infectious stressor.
Approach:
Case Presentation: A 40-year-old man with a history of infertility and suspected precocious puberty presented with bilateral adrenal enlargement after an upper respiratory infection. Diagnosis was supported by elevated ACTH and 17α-hydroxyprogesterone levels, and genetic testing confirmed a CYP21A2 mutation.
Key Findings:
The patient exhibited marked bilateral adrenal enlargement following an acute respiratory infection.
Adrenal volume decreased from 61.06 cm3 to 33.47 cm3 within one month.
Elevated ACTH and blunted cortisol response were noted, indicating adrenal dysfunction.
Interpretation:
The transient morphological changes in adrenal glands may reflect stress-induced compensatory hypertrophy and/or hyperplasia in response to increased cortisol demand, as observed in the patient.
Limitations:
The case study is based on a single patient, limiting generalizability to the broader CAH population.
Short-term fluctuations in adrenal morphology have not been extensively documented in CAH patients, which may affect understanding of the condition.
Conclusion:
In patients with 21-hydroxylase deficiency, infectious stress may lead to temporary adrenal enlargement, which can partially regress after the resolution of stress, as demonstrated in this case.
