Congenital Adrenal Hyperplasia Insights

New Study on Classic CAH Management and Treatment

Neurocrine Biosciences has announced the publication of a supplement in the Journal of Clinical Endocrinology & Metabolism, focusing on classic congenital adrenal hyperplasia. The supplement provides comprehensive insights and updates on the condition, its management, and treatment options.

Heel Prick Test Now Screens for Critical Genetic Disorder in Babies

The heel prick test for newborn babies has been expanded to include screening for a critical genetic disorder, which can help early detection and treatment. This expansion is significant for conditions like congenital adrenal hyperplasia, allowing for timely medical intervention.

In a study by Sandy et al. (2025), the psychological impact of a congenital adrenal hyperplasia (CAH) diagnosis was found to be profound and long-lasting, affecting family planning decisions. Parents of children with CAH experienced symptoms of trauma, such as depression and anxiety, which influenced their consideration of pre-implantation genetic testing (PGT) to prevent another child with CAH. However, some families chose natural conception after weighing the day-to-day impact of CAH and the financial, physical, and emotional costs of PGT. The study emphasizes the need for healthcare professionals to be empathetic and well-informed about CAH to better support families.

In a separate study, Oberste et al. (2025) found that fetuses with congenital heart diseases (CHD) exhibited larger adrenal gland ratios compared to normal fetuses, suggesting elevated metabolic stress levels that could impact adrenal gland development.

Lastly, Miller (2025) reviews the role of the steroidogenic acute regulatory protein (StAR) in CAH, noting that while StAR is essential for rapid steroid production, there are StAR-independent pathways as well. The review highlights the need for further research on how StAR facilitates cholesterol import into mitochondria, a key step in steroidogenesis.