Congenital hypothyroidism due to thyroid dysgenesis associated with distal renal tubular acidosis and hypoplastic kidney, an unknown association

Abstract

Congenital hypothyroidism, the most common congenital endocrine disorder, is associated with increased risk of additional congenital malformations involving other organs. Distal renal tubular acidosis (dRTA) in children is usually a primary disorder of renal tubular acidification. Hypothyroidism, usually of autoimmune etiology and only occasionally of nonautoimmune etiology, has been reported to be associated with dRTA. The association has seldom been reported in children and to the best of our knowledge congenital hypothyroidism associated with dRTA has not been reported. Here, we report a child with congenital hypothyroidism associated with dRTA and hypoplastic kidney.