Patient:
Ms. Jones, 45 years old, previously healthy.
Presenting complaint: Fatigue, weight loss, muscle weakness, darkening of skin (hyperpigmentation), and irregular menstrual cycles.
Medical history: No significant medical history or surgeries.
Family history: Mother diagnosed with autoimmune thyroiditis.
Physical examination: Low blood pressure, mild muscle wasting, and diffuse hyperpigmentation.
Laboratory findings:
- Elevated ACTH level (80 pg/mL, normal range 7-60 pg/mL)
- Low cortisol level (5 μg/dL, normal range 5-25 μg/dL)
- Low aldosterone level (4 ng/dL, normal range 4-12 ng/dL)
- Significantly elevated androstenedione level (5 ng/dL, normal range < 3 ng/dL)
- ACTH-to-androstenedione ratio of 16 (normal range < 7)
Diagnosis: Addison’s disease based on clinical presentation, hormonal profile, and elevated ACTH-to-androstenedione ratio.
Discussion:
Ms. Jones’ case highlights the crucial role of androstenedione in the diagnosis and management of Addison’s disease. Although cortisol and aldosterone deficiencies are the hallmark features, elevated androstenedione levels in the presence of elevated ACTH strongly suggest primary adrenal insufficiency. In Ms. Jones’ case, the elevated ACTH-to-androstenedione ratio further solidified the diagnosis, potentially avoiding unnecessary investigations.
Moreover, the elevated androstenedione level likely contributed to some of Ms. Jones’ symptoms, like fatigue and irregular menstrual cycles. This emphasizes the importance of considering androgen-related symptoms in Addison’s disease, particularly in women, and tailoring treatment accordingly.
Treatment:
- Ms. Jones was initiated on glucocorticoid replacement therapy (hydrocortisone) to address the cortisol deficiency.
- Mineralocorticoid replacement (fludrocortisone) was also prescribed to regulate electrolyte balance.
- Regular monitoring of cortisol, aldosterone, and ACTH levels was advised to optimize replacement therapy.
Ms. Jones reported significant improvement in fatigue, weight, and muscle strength after a few weeks of treatment. Her menstrual cycles also became more regular. Androstenedione levels gradually decreased alongside ACTH, indicating successful management of the adrenal insufficiency.
Conclusion:
This case study demonstrates the valuable role of androstenedione in diagnosing and managing Addison’s disease. Its measurement can provide additional clues and help distinguish between primary and secondary adrenal insufficiency. Furthermore, awareness of androgen-related symptoms caused by elevated androstenedione can lead to a more comprehensive approach to managing the disease and improving patient quality of life.
Additional points to consider:
- Explore the possibility of autoimmune etiology based on family history and potential need for autoantibody testing.
- Monitor Ms. Jones for long-term complications associated with Addison’s disease, such as osteoporosis and adrenal crisis.
- Educate Ms. Jones about the importance of stress management and adherence to medication to prevent adrenal crisis.