Autoimmune polyglandular syndrome type 1 in Saudi children.
OBJECTIVE
To describe the clinical, biochemical, and immunological manifestations of autoimmune polyglandular syndrome type 1 (APS-1) in a Saudi population.


METHODS
The medical files of 7 consanguineous Saudi families with 20 affected siblings were retrospectively reviewed. They were followed at the Pediatric Endocrinology Clinic, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia for a mean duration of 6 years (January 2000 to December 2009). The age of the affected children ranged from 2-17 years. The included patients had at least 2 out of the 3 major clinical diagnostic criteria of APS-1.


RESULTS
Fourteen children had neonatal chronic mucocutaneous candidiasis affecting the nails and mouth. The most commonly presenting endocrine disease among APS-1 patients was hypoparathyroidism. Eight patients had autoimmune Addison's disease. Hypothyroidism was diagnosed in 3 patients, and 9 patients had alopecia universalis. Other endocrine and autoimmune disorders were infrequently seen including type 1 diabetes, growth hormone deficiency, celiac disease, autoimmune hepatitis, and keratoconjuctivitis.


CONCLUSIONS
Autoimmune polyglandular syndrome type 1, although an uncommon disorder in Saudi children affects multiple endocrine glands, and is associated with several autoimmune diseases where alopecia universalis is a common finding.
Bin-Abbas
Bassam S
BS
Section of Pediatric Endocrinology, Department of Pediatrics, MBC 58, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Kingdom of Saudi Arabia. benabbas@kfshrc.edu.sa
Faiyaz-Ul-Haque
Muhammad
M
Al-Fares
Abdullah H
AH
Al-Gazlan
Sulaiman S
SS
Bhuiyan
Jalaluddin A
JA
Al-Muhsen
Saleh Z
SZ
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D016884:Polyendocrinopathies, Autoimmune / Q000453:epidemiology*; D012529:Saudi Arabia / Q000453:epidemiology