Androstenedione’s Untamed Dance in a 28-Year-Old Athlete with Non-Classic CAH

Patient:

Mark, a 28-year-old competitive cyclist struggling with persistent fatigue, unexplained weight gain, and declining athletic performance-Androstenedione’s

Presentation:

Mark, known for his athletic prowess, sought medical help due to a sudden drop in performance and worrying fatigue. He described increased sweating, muscle weakness, and difficulty recovering from training. Despite maintaining his rigorous training regime, his weight inexplicably rose, hindering his performance.

Investigations:

Initial blood tests revealed normal testosterone levels, but elevated 17-OHP (400 ng/dL) and surprisingly high androstenedione (350 ng/dL) raised an eyebrow. Further genetic testing confirmed non-classic CAH due to a mild 21-hydroxylase deficiency.

Challenges:

Unmasking the Culprit: Non-classic CAH often presents with subtle symptoms, and Mark’s normal testosterone levels further masked the diagnosis. Androstenedione’s role in his fatigue and weight gain remained unclear.

Tissue-Specific Enigma:

Unlike the typical virilisation symptoms in classic CAH, Mark displayed none. Identifying the specific tissues driving his symptoms with high androstenedione in the absence of testosterone dominance became a puzzle.

Management:

Glucocorticoid Trial: A low-dose glucocorticoid trial was initiated to suppress adrenal androgen production. While 17-OHP levels normalized, androstenedione remained elevated, indicating a different pathway at play.

Tissue-Targeted Approach:

Further investigations revealed enhanced peripheral conversion of androstenedione to testosterone in Mark’s muscle and adipose tissue. A low-dose anti-androgen medication specific to this conversion pathway was added to his regimen.

Nutritional and Exercise Adjustments:

To address his fatigue and weight gain, dietary modifications and specific exercise protocols were implemented to optimize his metabolic health and promote fat loss.

Outcome:

After six months, Mark’s fatigue diminished, and his weight stabilized. He reported an increase in energy levels and improved training performance. While not back to his peak yet, he regained hope and motivation. Androstenedione levels decreased slightly, but remained mildly elevated, necessitating ongoing monitoring and therapy adjustments.

Lessons Learned:

Androstenedione can play a significant role in non-classic CAH even with normal testosterone levels, as seen in Mark’s case.
Tissue-specific androgen metabolism can manifest in atypical symptoms, demanding a deeper understanding of individual variations.
A multi-pronged approach, including targeted medication, dietary changes, and exercise adjustments, can be crucial for managing non-classic CAH beyond just suppressing adrenal androgen production.

This case study showcases the complex and nuanced role of androstenedione in non-classic CAH. It highlights the importance of considering individual metabolic pathways and adopting a holistic approach to manage the diverse presentations of this condition.

Note: This is a fictionalized case study based on the information provided in the previous prompts. Please consult a healthcare professional for diagnosis and treatment of CAH or any other medical condition.