Objective: Cretinism is a condition of severely stunted physical and mental growth due to untreated congenital hypothyroidism. It has been largely eliminated in the developed world, though we still continue to see cases in India.
Case report: A 22-year-old male was brought to our Endocrine clinic by his brother due to his "not growing up". The patient was 83 cm in height (SDS - 16.98) and weighed 13.9 kg (<3(rd) percentile). He had dull look, puffy face with thick lips, macroglossia, and umbilical hernia. There was sexual infancy with prepubertal testes (<3 ml). He could sit without support, but could not stand, or walk without support and could only talk in monosyllables. He was born full term by normal vaginal delivery, and cried immediately after birth. The developmental milestones were delayed, and not achieved till date. He is the eldest of seven siblings, rest six of whom have no complaints. An X-ray of hand was done showing bone age of less than 1 year. A thyroid profile showed TSH >150 IU/ml, free T4 and T3 below the assay range. Ultrasound of neck showed absent thyroid tissue in neck. Iodine-131 uptake scan was consistent with thyroid aplasia. Diagnosis was myxematous cretinism due to thyroid aplasia was made, and patient was started on thyroxine supplementation.
Conclusion: This case represents the most severe form of untreated congenital hypothyroidism presenting as severely stunted physical and mental growth with delayed bone and sexual maturation.
Keywords: Cretinism; iodine 131 uptake; thyroid aplasia.