Which of the following condition shows epiphyseal dysgenesis as a pathognomonic feature?
Correct Answer: Hypothyroidism
Description: The diagnosis of congenital hypothyroidism is by testing a sample of blood is taken from the heel or from the umbilical cord at bih and analyzed for total T4 or TSH. A total T4 of less than 6 g/dL or a TSH more than 25 mU/L is usually indicative of congenital hypothyroidism. A low total T4 alone may be associated with low circulating thyroxine-binding globulin (TBG), but the significantly elevated TSH is diagnostic of primary hypothyroidism. The diagnosis may be accompanied by radiologic evidence of retarded bone age or epiphyseal dysgenesis (centers of ossification, especially of the hip, may show multiple small centers or a single stippled, porous, or fragmented center) in severe congenital hypothyroidism. Ref: Styne D. (2011). Chapter 6. Growth. In D.G. Gardner, D. Shoback (Eds), Greenspan's Basic & Clinical Endocrinology, 9e.
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