Guidance is critical to allow healthcare professionals manage endocrine emergencies
Genetic Disorders John Newell-Price, Professor of Endocrinology and Consultant Endocrinologist, University of Sheffield and Sue Elford from CLIMB CAH Support Group give their perspectives.
“Endocrine conditions are due to underproduction or overproduction of a certain hormone, or a disruption in the way a hormone is produced or functions. Adrenal insufficiency (AI), for example, arises if the adrenal glands are destroyed, absent or cannot function, disrupting steroid hormones. Possible genetic causes of AI include congenital adrenal hyperplasia (CAH), X-linked adrenoleukodystrophy and adrenomyeloneuropathy, familial glucocorticoid deficiency, triple A syndrome and congenital pituitary deficiency.
While AI can be managed through lifelong steroid hormone medication, under certain emergency situations (e.g. accident, collapse, surgery), an immediate injection of a large top-up dose of steroid is needed or it could be life-threatening.
The Society for Endocrinology launches new emergency guidance
Unfortunately, AI and ‘adrenal crisis’ are not always easily recognized. To address this, the Society for Endocrinology has introduced clear, concise guidance for frontline health professionals to help them manage endocrine emergencies.” [John]
“I remember quite vividly the devastation I felt when told that CAH was a genetic condition and therefore incurable and that that my two-week-old son faced a lifetime of daily medication. I was naturally fearful, but it was treatable, and with the help of an excellent paediatric endocrinologist, he has not let CAH hold him back in any way. The Society for Endocrinology guidance will go a long way in helping patients with CAH (and others), ensuring better emergency care” [Sue].