title: Congenital familial thyroid aplasia.
abstract: A family with 4 siblings, 3 of which have hypothyroidism due to thyroid aplasia is described. A review of the literature revealed 10 families with familial occurrence of this disorder without other malformations. Therefore, thyroid aplasia or dysplasia should no longer be called "sporadic cretinism" since autosomal recessive inheritance of this disorder appears to occur rather frequently.
mesh_terms: D000328:Adult; D003241:Consanguinity; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D008297:Male; D013961:Thyroid Gland / Q000002:abnormalities*