Congenital anomalies concomitant with persistent primary congenital hypothyroidism

R. Siebner, P. Merlob, I. Kaiserman, J. Sack

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64 Scopus citations


The Israeli national neonatal screening program for congenital hypothyroidism (CH) was initiated in May 1978. The overall incidence of persistent primary congenital hypothyroidism (PPCH) during the first 10 years of screening was 1:2,950 live births. The purpose of this study was to ascertain the incidence of congenital extrathyroid anomalies (ETAs) among the infants with PPCH and to compare it with the Israeli Birth Defect Monitoring System data. Among 243 PPCH infants on whom adequate data were available, 38 infants (15.6%) had associated congenital anomalies. Fourteen infants had congenital cardiac anomalies (5.8%): VSD (n = 7), PDA (n = 3), PS (n = 2), one mitral insufficiency, and one congenital atrial flutter. Eight children (3.3%) had congenital dislocation of the hip; their M:F ratio was 3:5 similar to the M:F ratio in CH (unlike the ratio in the general population). Some additional anomalies were considerably more common than in the general population. It is reasonable to assume that teratogenic effects active during organogenesis may affect simultaneously many organs, including the developing thyroid, causing a relatively high percentage of CH infants with congenital ETA.

Original languageEnglish
Pages (from-to)57-60
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number1
StatePublished - 1 Jan 1992
Externally publishedYes


  • O/E ratio
  • congenital anomalies
  • neonatal screening
  • primary congenital hypothyroidism


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