Evidence from different screening programs indicated that the rate of congenital hypothyroidism (CH) was higher in pre-term and low-birth-weight (LBW) newborns than normal ones. Incomplete development of hypothalamic-pituitary axis in this group of neonates results in the delayed rise of TSH and missing cases with CH. Hence, there is a great need for a practicable systematic screening method for proper diagnosis of CH in this group of neonates. In this review, we systematically reviewed papers with the following key words ([Congenital Hypothyroidism AND Screening AND Thyroxine AND Thyroid Stimulating Hormone AND Low Birth Weight AND Premature]) in international electronic databases including PubMed, Scopus, and Google Scholar. After quality assessment of selected documents, data of finally included papers were extracted. In this review, 1452 papers (PubMed: 617; Scopus: 714; Google scholar: 121) were identified through electronic database search. One hundred and ninety four articles were assessed for eligibility, from which 36 qualified articles were selected for final evaluation. From the reviewed articles, 38.9%, 11.11% and 8.3% recommended rescreening in this group of neonates, lowering the screening cutoff of TSH and using cutoffs according to the gestational age, respectively. Some of them (13.9%) recommended using both TSH and T4 for screening of preterm infants. After reviewing available data, we recommend repeating the screening test in pre-term, LBW and very-low- birth-weight (VLBW) infants at age of two, six and ten weeks by measuring TSH and FT4 levels simultaneously and considering TSH = 10 mU/L as the cutoff level for positive and suspicious cases.

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Background: Hypoglycemia is the most common metabolic problem occurring in newborns which is associated with poor neurologic outcome. The present study was conducted to determine the incidence, risk factors and immediate outcome of hypoglycemia in neonates. Methods: The present study was conducted on 3776 babies born with risk factors for hypoglycemia in NICU. Screening for blood glucose level of study subjects were done at 2, 4, 6,12,24,48,78 hours of life, twice daily and whenever symptomatic by using glucometer. Babies were followed up till discharge. Incidence, risk factors and immediate outcome of hypoglycemia were assessed. Appropriate tests were applied. Results: Incidence of hypoglycemia was 9.93% among high-risk neonates and overall incidence was 5.20%. 54.13% were males. 45% were preterm, 78.7% neonates were LBW. 53.07% were born to primiparous mother, 20.5% to diabetic mothers and 28.5% to hypertensive mothers. 16.8% had perinatal asphyxia, 14.66% new-born had underlying RDS. 48.5% were symptomatic, most common being lethargy 52.75% followed by jitteriness 43.41%, convulsion in 63 (34.62%). Preterm and LBW were significantly associated with mortality. Most common underlying comorbidities associated with deaths were sepsis (59.10%), RDS (45.46%), perinatal asphyxia (13.64%) and meconium aspiration syndrome (4.55%). Conclusions: Neonates with one or more risk factors for hypoglycemia should be screened irrespective of symptoms within 72 hours of life. Focused counselling on early initiation of breast feeding will reduce the incidence of hypoglycemia and its complications.

Background:Congenital adrenal hyperplasia (CAH) due to mutations in the gene encoding 21-hydroxilase is one of common disease with an autosomal recessive form. In this study, our aim is to detect the prevalence of eight common mutations in nonclassical congenital adrenal hyperplasia (NCAH).Materials and Methods:A total of 30 patients with clinical and laboratory evidence of NCAH was selected. Gene-specific polymerase chain reaction (PCR) without contamination of pseudogene was carried out, and PCR product of this step was used to amplification-refractory mutation system PCR on eight common mutations in CYP21A2 gene.Results:Two heterozygote patients for I2G mutation and six heterozygote patients for Q318X mutation is reported in our study. These mutations associated with the classic form of CAH, and heterozygotes presented with NC symptom, including premature pubarche and hirsutism.Conclusion:There are some data about the association of the mutation with the clinical form of CAH including classic (salt-wasting and simple virilizing) and NC form. I2G and Q318X mutations were reported in classic form in homozygote state, but the heterozygote form associated with NC form. CAH diagnosis with NC symptom and with measurement of 17-hydroxyprogestrone as NCAH is not a trusted assessment and require to molecular analysis for accurate diagnosis.

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