ESPE2023 Poster Category 2 Multisystem Endocrine Disorders (11 abstracts)
1Dr Warren Lee's Paediatrics, Growth & Diabetes Ctr, Singapore, Singapore. 2CLinical Immunology Laboratory Tan Tock Seng Hospital, Singapore, Singapore. 3Student intern, Singapore, Singapore. 4Clincal Immunology Tan Tock Seng Hospital Laboratory, Singapore, Singapore
Celiac Disease is being increasingly recognised among Asians, but the spectrum of presentation may differ from that of Caucasian populations. The clinical phenotypes of celiac disease and diseases of gluten intolerance have not been well studied in Singaporean patients. We describe the clinical, biochemical and genetic phenotype of each seropositive individuals from a single private sector paediatric endocrinology clinic in Singapore over the period 2008 to 2020. These 67 patients with Singaporean citizenship or permanent residency presented to the clinic before 21 years of age and had a serological level above the test manufacturer’s upper limit of normal for at least one of 4 serological tests for celiac disease (tissue transglutaminase IgA, tissue transglutaminase IgG, deamidated gliadin IgA and deamidated gliadin IgG) and their HLA DQb1 patterns were characterized by sequence-based typing. There were 34 male: 33 female, M: F ratio 1.03: 1, age range 3.13-20.21 mean 10.94 yr Ethnic composition: 53 (79.1 %) Chinese 2 (3.0 %) Malay 6 (9.0%) Indian 6 (9.0%) 3 (4.5%) Eurasian, 2 (3.0%) Caucasian). Of these patients 61 (91%) presented for problems of growth and pubertal development, 6 (9%) had Type 1 diabetes mellitus, 6 (9%) presented for thyroid pathology. Of these 21(31.3 %) had gastrointestinal symptoms, 4(6%) had skin rashes, 2 (3%) had a history of oral ulcers, 5 (7.5%) were on treatment for ADDHD, 13 (19.4%) had asthma or nasal allergy symptoms. Known gestational age in 44 patients was mean 38.6 wks (range 34-41.5 weeks gestation) , Mean birth weight in 43 patients with BW data was 2.809 kg (range 1.785-3.315 kg) and 14 out of 29 patients with known mode of delivery were delivered by caesarean section. Of these patients, 37 (55.2%) were positive for a single test 20 (29.9%) were positive for 2 tests, 10 (14.9%) were positive for 3 tests and none were positive for all 4 tests. TTg IgA was positive in 23 (34.3%), TTg IgG was positive in 26 (38.8%) DGP IgA was positive in 14 (20.9%) and DGP IgG was positive in 4 (6.0%) patients. Of these 67 patients, 40 (59.7 %) were positive for HLA DQ 2 and or DQ8, while another 21 (31%) were positive for either DQ7 or DQ9. HLA DQ 2 and or DQ8 alleles were present in 22/37 (59.5 %) of those with single positive, 13 /20 (65%) of those with double positive and 5 /10 (50%) of those with 3 tests positive.