title: A high prevalence of consanguineous and severe congenital hypothyroidism in an Iranian population.
abstract: To determine the incidence of permanent congenital hypothyroidism (CH) in Tehran and Damavand, cord blood spots were collected from February 1998-August 2002 and infants with TSH > or =20 mU/l were recalled. CH was confirmed in neonates (aged > or =7 days) with serum TSH >10 mU/l and T4 <84 nmol/l. Cases were followed up until September 2003. Dysgenesis was detected by thyroid imaging. In eutopic cases, serum TSH and T4 measurements following levothyroxine discontinuation (2-3 years of age) confirmed dyshormonogenesis and transient CH. Of 35,067 neonates, 373 (1.06%) were recalled and 25 (1:1,403 births) had permanent CH (six had transient CH and four remain unknown). Dysgenesis was detected in 18 (1:1,948 births) and dyshormonogenesis in seven (1:5,010 births) infants. Parental consanguinity was present in 10 (55.6%) dysgenetic, three (42.9%) dyshormonogenetic, and overall 6,648 (28.6%) of 23,227 screened infants. Odds ratio (95%CI(OR)) of consanguinity in permanent CH and dysgenesis was 2.75 (1.17-6.47) and 3.74 (1.33-10.52), respectively. The high prevalence of parental consanguinity in infants with permanent CH warrants genetic assessment.
authors.affiliation: Endocrine Research Center, Shaheed Beheshti University of Medical Sciences Tehran, Iran.
authors.forename: Arash
authors.initials: A
authors.lastname: Ordookhani
authors.forename: Parvin
authors.initials: P
authors.lastname: Mirmiran
authors.forename: Masoud
authors.initials: M
authors.lastname: Moharamzadeh
authors.forename: Mehdi
authors.initials: M
authors.lastname: Hedayati
authors.forename: Fereidoun
authors.initials: F
authors.lastname: Azizi
mesh_terms: D000704:Analysis of Variance; D016009:Chi-Square Distribution; D003241:Consanguinity; D003466:Cultural Characteristics; D003906:Developing Countries; D005260:Female; D006801:Humans; D006980:Hyperthyroidism / Q000097:blood / Q000151:congenital* / Q000453:epidemiology*; D007231:Infant, Newborn; D007492:Iran / Q000453:epidemiology; D008137:Longitudinal Studies; D008297:Male; D015997:Neonatal Screening; D016017:Odds Ratio; D015995:Prevalence; D018570:Risk Assessment; D012720:Severity of Illness Index; D017678:Sex Distribution; D013960:Thyroid Function Tests