BILATERAL ADRENAL AND TESTICULAR MASS IN A PATIENT WITH CONGENITAL ADRENAL HYPERPLASIA

Area of Science:

• Endocrinology
• Genetics
• Oncology

Background:

• Congenital adrenal hyperplasia (CAH) comprises autosomal recessive disorders impairing adrenal steroid hormone synthesis.
• 21-hydroxylase deficiency (21OHD) is the most common form of CAH.
• Testicular adrenal rest tumors (TARTs) are common in late-diagnosed male patients with 21OHD.

Observation:

• A 41-year-old male with a history of bilateral orchiectomy for presumed Leydig cell tumors presented with hormonal evidence of 21OHD and adrenal insufficiency.
• Re-evaluation of orchiectomy tissues identified TARTs, and imaging revealed significant bilateral adrenal masses.
• The patient was diagnosed with simple virilizing CAH and initiated on prednisolone replacement.

Findings:

• Hormonal assessment confirmed 21OHD with low cortisol and elevated 17-hydroxyprogesterone levels.
• Pathology of adrenal masses revealed myelolipoma (right) and an ongoing follow-up for the left adrenal mass.
• The patient is currently managed with prednisolone and testosterone replacement therapy.

Implications:

• This case underscores the critical need for early CAH diagnosis, particularly in males presenting with bilateral testicular and/or adrenal masses.
• Prompt diagnosis and glucocorticoid replacement can protect adrenal function and potentially preserve fertility.
• Timely intervention in 21OHD prevents severe complications associated with adrenal insufficiency and TART development.