Congenital hypothyroidism after assisted reproductive technology in Japan: comparison between multiples and...

The relationship between congenital hypothyroidism (CH) and multiple pregnancy has not been fully studied in Japan.

Complete nationwide data of assisted reproductive technology (ART) in Japan from 2005 to 2009 presented by the Japan Society of Obstetrics and Gynecology, which include information on CH and birth defects were used for analyses. Diseases were reclassified according to the International Classification of Diseases, tenth edition (ICD-10, 2003 version). The relative risk (RR) and 95% confidence interval (CI) of the incidence rate for CH was calculated with singletons as the reference group. Additional birth defects with CH were examined. The probandwise concordance rate of multiples and recurrence risk ratio were calculated.

There were 18 patients with CH, consisting of 12 singletons and 6 multiples. The incidence rates of CH per 1,000 live births in singletons and multiples are 0.14 (=12/87,145) and 0.31 (=6/19,533), respectively. The incidence rate was more than twofold higher in multiple births than in singleton births, but the difference was not statistically significant (RR=2.2, 95% CI 0.8-5.9). Additional birth defects were present in three patients with CH (17%=3/18). The multiples were affected by other birth defects more frequently (33%=2/6) than the singletons (8%=1/12). The six multiple-births patients were derived from one concordant twin pair, which consisted of two twin patients; three discordant twin pairs, which consisted of three twin patients; and one discordant triplets set, which consisted of one triplet patient. Thus, the probandwise concordance rate was 33.3% (=2/(2+4)). The estimated recurrence risk ratio was 1976 (for the total ART population) or 609 (for the Japanese general population).

CH was more frequent in multiples compared to singletons. A higher percentage of additional birth defects was also observed in multiples compared to singletons. The familial aggregation of CH was suggested.