Primary Adrenal Insufficiency in Children: Twenty Years Experience at the Sainte-Justine Hospital, Montreal
Rebecca Perry,
Oufae Kecha,
Jean Paquette,
Celine Huot,
Guy Van Vliet and
Cheri Deal
Endocrinology Service and Research Center, Sainte-Justine Hospital, and Department of Pediatrics, University of Montreal, Quebec, Canada H3T 1C5
Address all correspondence and requests for reprints to: Cheri Deal, Ph.D., M.D., Endocrinology Service, Sainte-Justine Hospital, 3175 Sainte-Catherine Road, Montreal, Quebec, Canada H3T 1C5. E-mail: cheri.l.deal{at}umontreal.ca.
Primary adrenal insufficiency (PAI) in the pediatric population(0–18 yr) is most commonly attributed to congenital adrenalhyperplasia (CAH), which occurs in about 1 in 15,000 births,followed by Addison’s disease, with an assumed autoimmuneetiology. However, molecular advances have increased the numberof possible diagnoses. The objective of this study was to determinethe incidence and etiologies of PAI in our pediatric population.All patients with a diagnosis of PAI followed by the EndocrinologyService at our institution between September 1981 and September2001 were studied. One hundred three patients (48 boys) wereidentified, primarily by the Endocrinology Clinic case registry.CAH was the most frequent etiology (71.8%). However, non-CAHetiologies accounted for 28.2%, of which 55% were nonautoimmunein etiology. Importantly, the CAH sex ratio was 1:1, despitethe absence of biochemical screening for this condition in Quebecnewborns. Patients with autoimmune polyendocrinopathy-candidiasis-ectodermaldysplasia (APECED) developed adrenal insufficiency 4 yr earlierthan those with non-autoimmune disease. Finally, we review therare etiologies of PAI and propose an algorithm to aid in targetedgenetic testing.
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