Congenital 17 alpha-hydroxylase deficiency: a clinicopathologic study

Area of Science:

• Endocrinology
• Histopathology
• Genetics

Background:

• Congenital 17 alpha-hydroxylase deficiency is a rare genetic disorder affecting adrenal steroidogenesis.
• This condition leads to impaired cortisol and sex hormone production, with potential impacts on mineralocorticoid synthesis.
• Understanding the histopathologic changes in the adrenal glands is crucial for elucidating the disorder's pathophysiology.

Observation:

• Histopathologic examination of adrenal glands in three patients revealed diffuse or nodular adrenocortical hyperplasia.
• Hyperplastic zones, particularly the zonae fasciculata and reticularis, showed cells with features of hypercorticism and hyperstimulation.
• Myelolipomatous lesions were noted in two cases, and hyperplasia of the zona glomerulosa was observed in all cases.

Findings:

• Morphologic findings are consistent with excessive adrenocorticotropic hormone (ACTH) secretion.
• Plasma aldosterone levels were normal, and plasma renin activity was suppressed before treatment.
• Hyperplasia of zona glomerulosa cells, abundant mitochondria, and smooth endoplasmic reticulum suggest zona glomerulosa hyperfunction.

Implications:

• The study suggests that zona glomerulosa hyperfunction and the involvement of its corticosteroids contribute to the pathophysiology of congenital 17 alpha-hydroxylase deficiency.
• These findings expand our understanding of adrenal gland responses in this disorder.
• Further research may explore therapeutic strategies targeting zona glomerulosa involvement.