RESUMO
BACKGROUND & OBJECTIVE: As an autoimmune disease, Type-1 diabetes mellitus (DM) may be associated with other autoimmune disorders, the presence of thyroid antibodies could be negatively impact the diabetic control. Our objective was to investigate thyroid autoimmunity in a cohort of children and adolescents with Type-1 diabetes and the Influence of the presence of thyroid autoimmune abnormalities on the control of diabetes in group of Iraqi pediatric patients with Type-I D.M. METHODS: This study was conducted at the Medical City Complex, Children Welfare Hospital, Baghdad, Iraq. This study was carried out from the first of January 2016 till the end of September 2017. Data were analyzed from 150 patients with Type-1 diabetes, aged 1-18 years who were treated and are coming for regular follow up in the diabetic clinic. Thyroid functions tests, Antibodies to thyroglobulin (anti-TG) and thyroperoxidase (anti-TPO) were measured, documented and correlated with diabetic control according to glycated haemoglobin (HbA1c) level. RESULTS: In the total of 150 patients, positive Antibodies to thyroglobulin (anti TG) were more in ≤3 years duration group of Diabetes mellitus(DM) and negative anti TG was less in the >3 years duration of DM group with statistically significant results (p=0.043), Regarding the distribution of thyroid antibodies (AB) according to HbA1c group, there was progressive positive anti thyroperoxidase (anti TPO) titer with glycemic status, good glycemic control had the lowest positive anti TPO titer and poor glycemic control group had the highest positive anti TPO titer and the result was statistically significant (p=0.048). CONCLUSIONS: Thyroid autoimmunity may be associated with poor diabetic control and elevated TSH levels, indicating subclinical hypothyroidism that my affect the diabetic control.
RESUMO
Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years. They presented with salt wasting, simple virilization, or pseudoprecocious puberty. Cytogenetic study was performed for cases with ambiguous genitalia. Molecular analysis of CYP21A2 gene was done using the CAH StripAssay (ViennaLab Diagnostics) for detection of 11 point mutations and >50% of large gene deletions/conversions. Mutations were found in 42 (67.7%) patients; 31 (50%) patients were homozygotes, 9 (14.5%) were heterozygotes, and 2 (3.2%) were compound heterozygotes with 3 mutations, while 20 (32.3%) patients had none of the tested mutations. The most frequently detected mutations were large gene deletions/conversions found in 12 (19.4%) patients, followed by I2Splice and Q318X in 8 (12.9%) patients each, I172N in 5 (8.1%) patients, and V281L in 4 (6.5%) patients. Del 8 bp, P453S, and R483P were each found in one (1.6%) and complex alleles were found in 2 (3.2%). Four point mutations (P30L, Cluster E6, L307 frameshift, and R356W) were not identified in any patient. In conclusion, gene deletions/conversions and 7 point mutations were recorded in varying proportions, the former being the commonest, generally similar to what was reported in regional countries.