A Missing Thyroid! In an Infant: A Case Report

Thyroid dysgenesis: Aplasia, hypoplasia, or an ectopic gland is the most common cause of permanent congenital hypothyroidism, accounting for 80 -85% of cases. In 66% of infants, rudiments of thyroid tissue are found in an ectopic location, anywhere from the base of the tongue (lingual thyroid) to the normal position in the neck (hypoplasia). In 33% of cases of dysgenesis, shows aplasia. Thyroid dysgenesis has a 2: 1 female: male ratio. This case reports a six months old female infant born to a non consanguineous parents shows a delay in developmental milestones and not gaining adequate weight with chronic constipation. Child shows a vital parameter of relative bradycardia and mild pallor, mild wasting and severe stunting with microcephaly and peculiar features of cretinoid facies with umblical hernia and dry and coarse skin. Peripheral blood smear reveals Macrocytic normochromic picture with normal WBC and platelet count, with Free T4 level of 0.08 ng/dl and TSH level of >50.2 mIU/L. USG report of neck reveals an absent thyroid gland. Hence this child got administered with levothyroxine (L -T4) at a dose of 67.5mcg OD in morning before breastfeeding and the child was periodically followed up in regular OPD basis.