Service evaluation suggests variation in clinical care provision in adults with congenital adrenal hyperplasia in the...

Area of Science:

• Endocrinology
• Genetics
• Reproductive Health

Background:

• Congenital adrenal hyperplasia (CAH) is a group of rare autosomal recessive disorders affecting steroidogenesis.
• International management practices for CAH show significant heterogeneity.
• The International CAH registry (I-CAH) aims to provide insights but its global adoption is uncertain.

Purpose of the Study:

• To assess current clinical practices for managing CAH patients in the UK and Ireland.
• To evaluate the use of glucocorticoids, monitoring strategies, and comorbidity screening.
• To determine the adoption rate of the I-CAH registry.

Main Methods:

• An anonymized online survey was distributed to endocrinologists in the UK and Ireland.
• The survey captured data on glucocorticoid choice, monitoring, and comorbidity screening.
• Clinicians' use of the I-CAH registry was also assessed.

Main Results:

• Significant variability in CAH management was observed, differing between general and subspecialist settings.
• Disparities were noted in biochemical monitoring, comorbidity screening, and reproductive health monitoring (TARTs screening, sperm banking, partner testing).
• The adoption of the I-CAH registry was universally low among surveyed clinicians.

Conclusions:

• Substantial differences persist in the current management of CAH.
• Further research is essential to determine if varying approaches impact long-term outcomes.
• Standardized minimum datasets and longitudinal data collection in new studies are crucial for defining and standardizing CAH best practices.