Background:

Considering the high prevalence of congenital hypothyroidism (CH) in Isfahan and its different etiologies in comparison with other countries, the high rate of parental consanguinity, and the role of NIS gene in permanent CH due to dyshormonogenesis, the aim of this study was to investigate the G395R mutation of the NIS gene in patients with permanent CH due to dyshormonogenesis

Methods:

In this case–control study, patients diagnosed with permanent CH due to dyshormonogenesis during CH screening program were selected. Venous blood sample was obtained to determine the G395R mutations of NIS gene using polymerase chain reaction (PCR) sequencing method.

Results:

In this study, 35 CH patients with permanent CH due to dyshormonogenesis and 35 neonates with normal screening results as a control group were studied. We did not find any changes of the mentioned mutation of NIS gene in the patients’ group.

Conclusion:

Considering the findings of the current study, it seems that further studies with larger sample size and with consideration of other gene mutations such as pendrin and thyroglobulin are needed for more accurate conclusion.

Lipoid congenital adrenal hyperplasia (lipoid CAH), a rare disorder of steroid biosynthesis, is the most severe form of CAH. In this disorder the synthesis of glucocorticoids, mineralocorticoids and sex steroids is impaired which result in adrenal failure, severe salt wasting crisis and hyperpigmentation in phenotypical female infants irrespective of genetic sex. In this report, we presented a 28-day-old phenotypic female infant, which referred with lethargy, failure to thrive and electrolyte abnormalities. Considering the clinical and biochemical findings, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid and mineralocorticoid and sodium chloride was initiated. During follow-up, she had good clinical condition, but at 6 years of age, she refers with hypertension and adrenal insufficiency because of arbitrary drug discontinuation by mother. In ultrasonography an abdominal mass (the testicles) was reported. Chromosome study showed 46XY pattern. Orchiectomy was performed. We recommended that in cases with clinical presentation of adrenal insufficiency if there is not the facility to determine the karyotype, repeated ultrasonography perform during follow-up. In addition, investigating the genetic bases of the disorder would help us to determine the pathogenesis of lipoid CAH in our community. It would be helpful in prenatal diagnosis and treatment of the disorder to prevent its related comorbidities.

Background:

Considering the role of maternal thyroid stimulating hormone (TSH) receptor blocking antibody (TRAb) in the etiology of congenital hypothyroidism (CH), this study aimed to determine TRAb among patients with CH in Isfahan, Iran.

Methods:

In this case–control study, patients with CH and their mothers were compared with a group of healthy neonates and their mothers. Venous blood samples were obtained for measurement of TRAb using enzyme-linked immunosorbent assay (ELISA) method among mothers and their neonates. TSH of mothers was also determined.

Results:

The case group consisted of 65 patients with CH and their mothers; controls were 148 healthy neonates and their mothers. The prevalence of positive TRAb in patients with CH and their mothers was higher than in the control group (81.5% vs. 1.3% in mothers and 80% vs. 0% in neonates, respectively, P<0.05). The relationship between the TRAb and occurrence of CH was significant (P<0.05), whereas the corresponding figure was not significant for TRAb and the level of maternal and neonatal TSH in case and control groups (P>0.05).

Conclusion:

It seems that autoimmunity has an important role in the etiology of CH. Further studies are necessary to determine other autoantibodies in CH patients.

Objectives:

Early and proper treatment is crucial to prevent neuropsychologic deficits in congenital hypothyroidism (CH). Considering the high prevalence of CH in Isfahan, the aim of this study was to evaluate the outcome of treatment in CH patients.

Methods:

In this study CH neonates diagnosed during screening program in Isfahan from May 2002 to September 2009 were studied. Frequent visits were performed to CH patients to monitor and follow their treatments. Quality of treatment was assessed by evaluating mean age of treatment initiation and mean TSH and T4 levels before and after treatment and during the first and second years according to their normal reference ranges.

Results:

Of 225,224 screened neonates, 536 were diagnosed as CH patients. The prevalence of CH was 1/420 live births. Mean age at starting treatment was 22.9 ± 13.2 days. In 93.7% of patients, treatment was begun before the 45th day of life. In the first measurement after initiating the treatment, T4 and TSH were not in their acceptable range in 3.9% and 9.8% of CH patients, respectively. Mean T4 and TSH reached to normal range during the treatment period. T4 reached the normal range earlier than TSH.

Conclusions:

The mean age of treatment initiation was in acceptable range but the findings suggest that both early and high-dose treatments are crucial for optimal treatment, especially in patients with severe CH. Further studies are needed to determine the outcome of treatment specially regarding to different etiologies of CH.