A one year old child preents with sho stature, lethargy, & constipation. Clinical examinaton shows a palpable goiter. Laboratory investigations revealed a low T4 and elevated TSH which of the following is the most likely diagnosis.
Ans is 'a' i.e., Thyroid Dyshormonogenesis o This child has :? i) Thyroid swelling ii) Low T4 & High TSH iii) Abnormal weight gain and poor activities o All these suggests the diagnosis of congenital hypothyroidism due to thyroid disorder (In hypothalamic diseases, TSH levels will be low). o The most common cause of non - endemic congenital hypothyroidism is thyroid dysgenesis. i) In endemic regions Most common cause of congenital hypothyroidism is iodine deficiency in intrauterine and neonatal period (world wide). ii) In non-endemic regions Most common cause of congenital hypothyroidism is thyroid dysgenesis. o However, in thyroid dysgenesis, thyroid gland does not enlarge to produce palpable goitre. So, this option is excluded. o Dyshormogensis is an uncommon cause of congenital goitrous hypothyroidism and account only about 10-15% of cases of congenital hypothyroidism. It results from a deficiency of one or more enzymes (most commonly, thyroid peroxidase) involved in thyroid hormone synthesis or secretion. Condition Palpable Thyroid (Goitre) T4 rsH Thyroid Dysgenesis No Low Elevated Thyroid Dyshormonogenesis Yes (Goitre) Low Elevated TSH Receptor Blocking Antibody No Low Elevated Central Hypothyroidism No Low Normal/Low o So, amongst the given options, best answer is Dyshormogenesis. o You keep in mind that the most common cause of congenital hypothyroidism with similar presentation (palpable goitre) is iodine deficiency.
Thyroid Dyshormonogenesis
Thyroid Dysgenesis
Central Hypothyroidism
TSH Receptor Blocking Antibody