Congenital adrenal hyperplasia is a complex and varied condition requiring specialist input and long-term review. However, the GP has a major role in suspecting an adrenal cause for presentations such as early pubarche or virilisation, unusually rapid growth in a child, early and severe polycystic ovary syndrome, fertility issues and testicular masses in men. The necessary investigations and specialist referrals can then be carried out, and the correct management strategies shared between the GP and specialist can be put in place.
- Congenital adrenal hyperplasia (CAH) can present as an endocrine emergency in an infant with vomiting and/or ambiguous genitalia.
- CAH should be considered in a tall, rapidly growing boy or girl with premature pubic hair.
- Nonclassical CAH (NCCAH) may present for the first time as apparent polycystic ovary syndrome (PCOS).
- Treatment requirements for CAH vary at different times of life and with different types of CAH.
- Treatment of CAH is different from standard treatment of adrenal insufficiency and requires specialist consultation.
- Most adults with CAH are potentially fertile, but fertility may be complicated by PCOS or adrenal rest tissue.
Picture credit: © Kim Symonds.