medwireNews: About a quarter of children with classic congenital adrenal hyperplasia (CAH) will have at least one salt-wasting crisis or hypoglycaemic episode during the first 6 years of life, say researchers.

“Caregivers of CAH children need continuous active support for their demanding responsibility, and they need expert care and skilled physicians who are able to deal with the management of a rare disorder, even in case of emergency”, say Brigitte Odenwald (Bavarian Health and Food Safety Authority, Oberschleißheim, Germany) and study co-authors.

They report that 27.5% of 102 children with CAH had a salt-loss or hypoglycaemia event between the neonatal period and the age of 6 years, with these 28 children having 22 salt-wasting crises and 16 hypoglycaemic events. Seven of the salt-loss events occurred in conjunction with hypoglycaemia.

Eight children had two salt-loss events, and one had three. All salt-wasting crises appeared to be triggered by infections, and four cases were probably unavoidable, because infectious symptoms “appeared very rapidly, leaving no time frame for special preventive therapy”, says the team.

However, the other 18 events occurred at least a day into an infection for which sick day rules had not been adequately followed. Children were not receiving increased hydrocortisone doses, or were receiving them orally despite vomiting.

“Non-compliance with sick day rules was observed among all educational levels of parents, possibly caused by underestimation of the situation or by the wish to avoid an intramuscular injection, hospitalization or confrontation with medical staff”, the researchers write in the European Journal of Endocrinology.

By contrast, 11 of the 16 hypoglycaemia episodes occurred in children who had been adherent to therapy and had little or no signs of illness that might require a stress hydrocortisone dose.

Most of these episodes happened in the early morning, and the paediatric endocrinologists who saw the patients suggested the overnight gap between glucocorticoid doses could have been the causative factor for 11 events, and changed the children’s medication schedules accordingly.

“The prevention of severe hypoglycemia seems not to be completely covered by the current treatment recommendations”, say Odenwald and team.

They add that “altered dosage recommendations for young CAH children or new drugs with a delayed hydrocortisone release providing higher cortisol levels in the early morning hours could be promising approaches in the future.”

Seizures were more common than the researchers had anticipated, at a rate of 17.6%. However, they usually appeared at the same time as salt-wasting or hypoglycaemia, leading the team to suggest that effective prevention of these events may also prevent seizures.

By Eleanor McDermid, Senior medwireNews Reporter

Eur J Endocrinol 2015; Advance online publication

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