Audit of the Congenital Hypothyroidism Screening Program in 15 Provinces of Iran.

Background: The newborn screening (NBS) program for congenital hypothyroidism (CH) was launched on a national scale in Iran since 2005; we evaluated the program in 15 provinces, from 2011 to 2014.

Methods: Fifteen provinces, including 17 districts, were included in the study. Aggregated data of screening, diagnosis, and management of all neonates born in each district in 2011 were retrospectively gathered and collectively analyzed.

Insulin receptor gene mutations in iranian patients with type II diabetes mellitus.

Background: Patients with diabetes mellitus type II suffer from hyperglycemia because they are not able to use the insulin that they produce, often due to inadequate function of insulin receptors. There are some evidences that this deficiency is inherited in a dominant autosomal manner and leads to the malfunction of the pancreatic beta cells resulting in insulin excretion disorders. In this study, we sought to identify mutations in the insulin receptor (INSR) gene, which can cause insulin resistance in type II diabetic patients.

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

Mutations in the SLC26A4 gene at the DFNB4 locus are responsible for Pendred syndrome and non-syndromic hereditary hearing loss (DFNB4). This study included 80 nuclear families with two or more siblings segregating presumed autosomal recessive hearing loss. All deaf persons tested negative for mutations in GJB2 at the DFNB1 locus and were, therefore, screened for autozygosity by descent (ABD) using short tandem repeat polymorphisms (STRPs) that flanked SLC26A4.