Endocrine Abstracts

Introduction: Congenital Adrenal Hyperplasia (CAH) carries a high risk of morbidity and mortality in undetected affected infants and has an estimated incidence of 1:15 000 based on newborn screening programmes internationally. This project aimed to identify cases and mode of diagnosis of CAH in the Republic of Ireland (ROI) to establish the case if any for screening.

Methods: (i) A retrospective questionnaire was sent to all consultant paediatricians in ROI confirming the number of cases of CAH attending their service and a follow up audit detailed presentation and diagnosis of cases from January 2000.

(ii) A prospective two year audit carried was carried out in conjunction with the Irish Paediatric Surveillance unit (IPSU) to ascertain the incidence of new cases from Jan 2007 to Dec 2008

Results: One hundred and nine consultants responded to the initial questionnaire declaring a total of sixty nine cases currently under their care in ROI. Of these, thirty one cases were diagnosed since January 2000. Only two cases had a positive family history of CAH. Eighty per cent of males presented less than one year of age (10–335 days) with features of salt wasting adrenal crisis. Two thirds of females presented with clitoromegaly or precocious adrenarche after the neonatal period while only one third of females were identified due to recognition of ambiguous genitalia at birth. Inclusion of 17 OHP on the neonatal screening card would have identified three of every four cases.

Prospectively only three cases were identified using IPSU correspondence.

Conclusion: The incidence of CAH in ROI is 1 per 13,621 live births. There is a strong case for the introduction of newborn screening for CAH in the Republic of Ireland due to the medical, psychological and economic benefits of early diagnosis prior to salt wasting crisis.