CONGENITAL CONDITIONS ASSOCIATED WITH PERMANENT INFANTILE HYPOTHYROIDISM

Abstract

Banforth et al have reported that among 37 patients with infantile hypothyroidism diagnosed as a result of screening, 7 had other congenital anomalies. We reviewed the records of 190 patients similarly diagnosed in N.E. in 1976 through 1981. Adequate information was available for 181 infants. We are reviewing a second cohort born in the ensuing 5 years. The incidence of congenital conditions was not significantly different from the accepted incidence of 3% in the general population. The congenital anomalies and other associated conditions (some of which were manifested only years after birth) included: mild pulmonic stenosis (n=2), atrial septal defect, imperforate anus, Pierre Robin syndrome, familial microcephaly, patent ductus arteriosus, club foot, vertex cutis aplasia, Williams syndrome, late 21-hydroxylase deficiency, Trisomy 21 (n=2), and spastic di or hemiplegia (n=3). The association of permanent and transient hypothyroidism with Down syndrome is well known. No hypothyroid patients have as yet been recognized to have Turner syndrome. The instance of cerebral palsy is interesting because of its occurrence in certain endemic cretins. Again because of the small number of hypothyroid patients the incidence cannot be distinguished from that in the general population (1:250). The patient with 21-hydroxylase deficiency has dyshormonogenesis. Her euthyroid twin also has the hydroxylase deficiency. Three of the other patients with associated congenital conditions also have dyshormonogenesis. One of the patients with pulmonic stenosis has an euthyroid twin.

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