Cretinism revisited
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 (<3rd percentile). He had dull look, puffy face with thick lips, macroglosia, 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 the 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 thyroid stimulating hormone (TSH) >150 IU/ml, free T4 and T3 were 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.