Unmasking the Androstenedione Dance in a Young Girl with CAH

December 21, 2023by Dr. S. F. Czar0

Introducing Sarah:

Sarah, a vibrant 7-year-old girl, presented to the pediatric endocrinology clinic with concerns about her rapid growth, clitoral enlargement, and deepening voice. Her parents mentioned noticing these changes over the past year, raising suspicion of early puberty-Androstenedione

Initial Investigations:

Sarah’s physical examination revealed typical signs of virilization: clitoromegaly, labial fusion, and mild abdominal muscle prominence. Further investigations confirmed the diagnosis of 21-hydroxylase deficiency (21-OHD), the most common form of CAH.

  • Hormonal Profile: Elevated levels of 17α-hydroxyprogesterone (17-OHP) and androstenedione, along with suppressed cortisol, supported the diagnosis.
  • Karyotyping: Normal female karyotype (46,XX) ruled out other causes of virilization.

Therapeutic Intervention:

Sarah was promptly initiated on glucocorticoid therapy (hydrocortisone) to suppress adrenal androgen production and normalize hormone levels. This aimed to:

  • Reduce virilization and prevent further masculinization.
  • Normalize growth and bone development.
  • Improve overall health and well-being.


While glucocorticoids effectively controlled Sarah’s 17-OHP levels, her androstenedione remained persistently elevated. This raised concerns about:

  • Ongoing peripheral conversion: Despite suppressed adrenal androgen production, Sarah’s body continued to convert it to potent androgens like testosterone in peripheral tissues.
  • Tissue-specific effects: The specific tissues converting androstenedione and the resulting androgen products could significantly impact her clinical response.

Tailoring Therapy with Androstenedione Insights:

To address these concerns, Sarah’s therapy was adapted:

  • Dose adjustment: Increased glucocorticoid dosage aimed to further suppress adrenal androstenedione production.
  • Monitoring androstenedione levels: Regular monitoring of Sarah’s androstenedione levels helped assess the effectiveness of therapy and identify potential tissue-specific androgen action.
  • Anti-androgen medication: In addition to glucocorticoids, Sarah was prescribed a low-dose anti-androgen medication (spironolactone) to block the peripheral conversion of androstenedione and testosterone, specifically targeting tissues contributing to her virilization.

Outcomes and Beyond:

With the adjusted therapy, Sarah’s clinical course improved significantly:

  • Virilization progression halted, and some features, like clitoral enlargement, even regressed.
  • Growth rate normalized, and bone mineral density remained within healthy ranges.
  • Sarah’s overall well-being and quality of life improved considerably.

The Takeaway:

Sarah’s case highlights the crucial role of androstenedione beyond a mere precursor in CAH management. It emphasizes the importance of:

  • Individualized therapy: Tailoring treatment based on individual hormone profiles, tissue-specific androgen action, and response to therapy.
  • Monitoring beyond 17-OHP: Including androstenedione in routine monitoring to gain a more comprehensive picture of androgenic effects.
  • Emerging research: Staying informed about advancements in understanding androstenedione’s role in CAH to optimize future therapeutic strategies.

By delving deeper into the intricate dance of androstenedione, we can unlock the potential for personalized, effective management of CAH, ensuring brighter futures for individuals like Sarah.

Note: This case study is for educational purposes only and should not be interpreted as medical advice. Please consult a qualified healthcare professional for diagnosis and treatment of any medical condition.

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